CURE SYNGAP1 PODCAST aka SYNGAP10

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107 RECENT EVENTS MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing Family Video and Fundraiser: Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday SRF in the World: SRF in Mexico - Our Voice is Getting Louder blog Syngap.Fund/Voice SRF in Poland - https://twitter.com/beatasyngap1/status/1664996361585197057?s=20 STUDIES ENDD S1 NHS - Email [email protected] to sign up and please cc [email protected], [email protected] & [email protected] - https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view# CHOP NHS ENDD Blog: https://Syngap.Fund/CHOPNHS CORNELL English https://redcap.link/syngapcaregiversurvey Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY COMBINEDBrain Biorepository https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 STXBP1 Foundation, (July 21st-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020) Yellow Brick Road Project, (July 30th-August 2nd (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082) CINEMAS STUDY - Mild Intellectual Delay https://cinemasstudy.com/#right_for_me PRESS Axios Fruit Flies article https://www.axios.com/local/salt-lake-city/2023/06/09/fruit-fly-medical-research-university-utah FUTURE EVENTS June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap August 26 - Syngap Soiree https://e.givesmart.com/events/wiH October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023 October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/ October 30-31 - Epilepsy Awareness Day at Disneyland https://epilepsyawarenessday.org/lobby-page/ Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund Conference pre-registration link: Syngap.Fund/2023conf Book hotels ASAP: https://Syngap.Fund/2023hotel T-shirts https://www.bonfire.com/srf-syngap1-conference-2023/ WEBINARS Upcoming: June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations - Previous: Therapeutic Strategies for Autism: Targeting Three Levels of the Central Dogma of Molecular Biology - Presented to the SYNGAP1 Community - Lilia Iakoucheva & Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1 PODCAST - Syngap Stories, interviews, see #10 with Dani Williams https://www.syngapresearchfund.org/podcast-episodes/episode-010 Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 107 of #Syngap10 - June 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Blane & Ashley Dallen & Melissa Oakley in Canada just raised over $10k together with two events. SynGAP Paddle Slap *this woman knows how to run a successful fundraising event with very low overhead! Stats: They had 12 teams play in the tournament. About 120 people joined the crawfish boil. Actual $ breakdown: Total Actual Income $23,250.00. Article https://www.localmemphis.com/article/life/family/rare-disease-research-promoted-integra[…]1-austim-epilepsy/522-b805046b-d05e-4f17-a8ab-69421293f926 Minnie's article in the Chicago Tribune. (behind firewall) https://www.chicagotribune.com/people/health/ct-hayden-cheng-syngap-diagnosis-0525-20230527-zacxfmtrhbd4bm5gbc3su5hsr4-story.html Vicky & Paulina in Chihuahua, Mexico at Sociedad Mexicana de Neurología Pediátrica's annual conference https://twitter.com/cureSYNGAP1/status/1659250923611496449 Two blogs en Español https://www.syngapresearchfund.org/post/vacacionar-con-un-syngap1-147 https://www.syngapresearchfund.org/post/notas-de-terliz-mama-syngap1-145 STUDIES ENDD S1 NHS - Email [email protected] to sign up and please cc [email protected], [email protected] & [email protected] https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view# Watch #S10e105 https://www.youtube.com/watch?v=qy5YrPIlH0I Cornell study English https://redcap.link/syngapcaregiversurvey Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY COMBINEDBrain Biorepository - https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 SCIENCE 1st Syngap Patient Derived Models from SRF grant to Dr. Araki & Dr. Huganir https://www.biorxiv.org/content/10.1101/2023.05.25.542312v2 "Eye of the Fly" Chow article - https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease EVENTS June 10 - MDBR https://charity.pledgeit.org/t/Optdm6sOX9 June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap August 26 - Syngap Soiree https://e.givesmart.com/events/wiH October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023 October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/ CONFERENCE Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund Conference pre-registration link: https://Syngap.Fund/2023conf Book hotels ASAP: https://Syngap.Fund/2023hotel Tshirts: https://www.bonfire.com/srf-syngap1-conference-2023/ WEBINARS June 8 - Therapeutic strategies for autism: Targeting Three levels of the central dogma of molecular biology - Dr. Lilia Iakoucheva & Mr. Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1 June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations Recently - Dr. Baptiste Lacoste - Involvement of the brain endothelium in neurodevelopmental disorders https://www.syngapresearchfund.org/webinars/76-involvement-of-the-brain-endothelium-in-neurodevelopmental-disorders-syngap1 PODS - Syngap Stories, interviews, see #8 with Heather Bensch https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-008 - Syngap Stories, interviews, see #9 with Lauren Perry https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-009 Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 106 of #Syngap10 - June 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] This is the ENDD of excuses. Sign up for the CHOP ENDD Study. There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 105 of #Syngap10 - May 19, 2023 #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Long trip, but first… Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event $243,794 of $250,000, 849 Donors

Grand Total: $241,359 – Incredible! Congratulations to all the teams. In-Person Events: Team Tavilla raised $162,464…and counting Hope for Hadley raised $10,059… and counting Team Syngap America Latina raised over $2,000 Canada - Team Mya raised over $2800 & Team Chase raised over $2300 Team Andrew raised over $3,200 Team Emma Mae raised over $3,000 Team Kai raised over $2,600 Team Gracyn raised $1,864 Team Naya raised $1,795 Team Patrick raised $1,240 Kilometers4Kai raised $952 March4McKaela raised $550 Online Fundraisers: Phoebe’s fight’s total is $32,269 Team Rocco 10,698 Team Fallyn total 1402 Team Saydee total 1123 Sprinting for Laila up in Canada raised $1029 Misko’s family in the Czech Republic is at $850 Team Teddy raised $600 Hope for Reef raised $553 Team Lizzy at $100 Rifton Giveaway Congrats to Andrew who won the customize Rifton bike! Sprint4Syngap 2024 Saturday, April 27 There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 103 of #Syngap10 - May 3, 2023 #Sprint4Syngap #fundraising #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Webinars McKEE 4/27 https://syngap.fund/mckee - Ciitizen SYNGAP1 count is over 212 - Sign-UP https://ciitizen.com/syngap1 - Sign-IN & Update https://app.ciitizen.com/ SMITH 5/11 https://syngap.fund/smith LACOSTE 5/18 https://syngap.fund/lacoste #Sprint4Syngap - 4 days, April 29, 2023 - $210k, 652 donors. - https://syngap.fund/sprint - Fundraising page: https://syngap.fund/sprint23 What’s your neuro emergency plan? https://twitter.com/cureSYNGAP1/status/1646170843503034368 Caregiver Connect from DSF Video modules are broken down into four important topics: Taking Care of the Caregiver; Caregiver Burnout; Communicating Emotions, Needs & Concerns; and Managing Grief. Each module offers multiple videos that you can watch on demand, as your schedule allows, as well as a coordinating tip sheet. If this resource would be useful to you or your community, you can find it at: - https://dravetfoundation.org/caregiver-resources/caregiver-connect/ - aka https://syngap.fund/dsfcc Rare News Updates PGx, just do it. ​​https://www.nature.com/articles/s41397-020-00181-w Invitae Killer paper overview on therapy typeshttps://www.spectrumnews.org/opinion/q-and-a/the-future-of-autism-therapies-a-conversation-with-lilia-iakoucheva-and-derek-hong/ https://www.nature.com/articles/s41398-023-02356-y #MDBRSRF - 46 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 219 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel Remember the Biorepository Roadshow - https://syngap.fund/roadshow List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB - MED13L Foundation on April 30th, 2023 (Philadelphia, PA) - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) - KDVS Foundation, July 19th-21st 2023 (Orlando, FL) - STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO) - Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL) - (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN) - (Potential) KAND, August 3rd-6th 2023 (Queens, NY) - (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH) - USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO) - TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA) - (Potential) Angelman Foundation, November 2023 (Orlando, FL) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 102 of #Syngap10 - April 25, 2023 #DNAday #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101 What’s your neuro emergency plan? https://twitter.com/cureSYNGAP1/status/1646170843503034368 Congrats to Dr. Frazier on the FIRST NET paper: https://twitter.com/cureSYNGAP1/status/1646573476353044481 Thanks to Kevin for going to Gatlinburg - Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433 - ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097 Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases” https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with Sibling day John https://youtu.be/J5oBo9zcRUE LGS https://www.youtube.com/watch?v=kR1nWSEZPfY Webinars McKEE 4/27 https://syngap.fund/mckee SMITH 5/11 https://syngap.fund/smith Ciitizen SYNGAP1 count is over 2101 - Sign-UP https://ciitizen.com/syngap1 - Sign-IN & Update https://app.ciitizen.com/ Rare News Updates Hot off Presses, Stoke is talking about TANGO and mentions their SYNGAP1 work with Acadia https://knowablemagazine.org/article/health-disease/2023/hope-for-haploinsufficiency-diseases SCN2A Clinical Trial Site and Video, which is very good! - https://www.youtube.com/watch?v=z9SqMSO405I - https://scn2aclinicaltrials.com/ Frog update: See what Dr. Helen Willsey is doing here: https://youtu.be/Gp8sROAm5D8 #Sprint4Syngap - 14 days, April 29, 2023 - https://syngap.fund/sprint - Fundraising page: https://syngap.fund/sprint23 #MDBRSRF - 56 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 229 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel Remember the todos in #S10e100 - https://www.youtube.com/watch?v=CCjPkabkR1A - Education survey https://forms.gle/YZJZmJavMNKNEBg88 - Biorepository Roadshow - https://syngap.fund/roadshow List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB - MED13L Foundation on April 30th, 2023 (Philadelphia, PA) - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) - KDVS Foundation, July 19th-21st 2023 (Orlando, FL) - STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO) - Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL) - (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN) - (Potential) KAND, August 3rd-6th 2023 (Queens, NY) - (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH) - USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO) - TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA) - (Potential) Angelman Foundation, November 2023 (Orlando, FL) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 101 of #Syngap10 - April 15, 2023 #frogs #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

How is the podcast doing? - Episode 1 - 93 in ciitizen, 750 patients, on our first Sprint… https://youtu.be/aGDEc8Uwy-k - Episode 100 - 212 in ciitizen, 1,215 patients, on our 3rd Sprint! What you can do this week? - Take the education survey https://forms.gle/YZJZmJavMNKNEBg88 and consider joining our advocacy group. - Tell me if you have any GI biopsies planned. - Plan your travel - Biorepository Roadshow - See end of shownotes or https://docs.google.com/presentation/d/1Ps3n6f62yQ9lMEsON-vbgvyOKiO8TohawZcUByxVg8g/edit?usp=sharing - Annual Conference - Preregister Syngap.Fund/2023conf Any great press? - Polancos on TV https://twitter.com/cureSYNGAP1/status/1643967039214850048 - Fosters in the KC Star https://twitter.com/cureSYNGAP1/status/1643357789966704643 - Axonis/Tang Grant https://twitter.com/cureSYNGAP1/status/1643602756375298048 Rare News Updates - ONCE UPON A GENE - EPISODE 181 - Helping Undiagnosed Patients Who Experience Symptoms of Rare Disease Lukas Lange is the CEO and Founder of Probably Genetic. https://twitter.com/OnceUponAGene/status/1644079452211798016 - Angelman Training for ASOs - https://twitter.com/cureSYNGAP1/status/1643768256468238336 #Sprint4Syngap - 21 days, April 29, 2023 - https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 #MDBRSRF - 63 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 236 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - We have signed with a hotel/venue, please stay tuned for room link - Large Latin Contingent too, just another this morning. List of biorepository collection opportunities, watch this webinar for more information https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 - MED13L Foundation on April 30th, 2023 (Philadelphia, PA) - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) - KDVS Foundation, July 19th-21st 2023 (Orlando, FL) - STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO) - Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL) - (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN) - (Potential) KAND, August 3rd-6th 2023 (Queens, NY) - (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH) - USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO) - TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA) - (Potential) Angelman Foundation, November 2023 (Orlando, FL) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) - SLC6A1 Connect, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 100 of #Syngap10 - April 8, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Watch the COMBINEDBrain / TJB Webinar! https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 Frogs are cool https://www.spectrumnews.org/news/profiles/how-helen-willsey-broke-new-ground-frogs-in-hand/ See Figure 2D https://pubmed.ncbi.nlm.nih.gov/33497602/ #SYNGAPcensus is at 1,251 https://www.syngapresearchfund.org/post/142-syngapcensus-2023-update-51-in-q1-2023 SYNGAP is HOT https://www.youtube.com/watch?v=X4iDyHc4xUA #Sprint4Syngap - 28 days, April 29, 2023 - https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 #MDBRSRF - 70 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 243 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - We have signed with a hotel/venue, please stay tuned for room link - Large Latin Contingent too, just another this morning. There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 99 of #Syngap10 - April 1, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat.

Milken Fastercures RPMM - So much strong work and thinking here! https://milkeninstitute.org/centers/fastercures/train/toolkits/RPMM - Three floors: Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible. - St. Francis of Assisi - Cool Tweet: https://twitter.com/LindsayOkamoto/status/1639017493007335425?s=20 Why we need a house? www.fpwr.org - www.jdrf.org - www.runx1-fpd.org Press is key! Congrats to Peggy https://www.newsandtribune.com/news/clark_county/floyd-family-seeks-to-lessen-funding-gap-for-rare-genetic-disorder/article_d16460f4-c8f8-11ed-a60c-170e5bfff4d6.html Amazing Webinars - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ #Sprint4Syngap - 36 days, April 29, 2023 - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 #MDBRSRF - 79 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 252 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - We have signed with a hotel/venue, please stay tuned for room link - Large Latin Contingent too, just another this morning. There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 98 of #Syngap10 - March 23, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Community with families - Amazing time with the Hardings, thank you. https://www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl - Hattie and Tony at the pool with the Fosters - Foster movie link on website: https://www.syngapresearchfund.org/patient-stories/hattie/ - Foster press - 3/13/23 - KMBC News: https://www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/ - 2/28/23 - Fox4KC https://fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/ - Throw them in occasionally. Talking to 2 year olds - LA, NorCal, DC, NY - https://www.syngapresearchfund.org/post/140-my-reema-syngap1 - You are fortunate to know. - Your future will be different and we have written that story, see McKee and Brimble - https://twitter.com/JillianLMcKee/status/1600202742269501442 - https://twitter.com/cureSYNGAP1/status/1636177159059574784 - We chose between Love and Fear, Hope and Despair https://www.demellospirituality.com/love-or-fear/ - Choose hope, love you kiddo by joining SRF and working with us for a better future. Amazing Webinars - From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ Stoke and Praxis Updates - Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration - Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1 - See Next 2023 from Global Genes, industry updates start on page 50 https://20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf #Sprint4Syngap - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 96 of #Syngap10 - March 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

RD Advocacy with Everylife Foundation was Epic. - https://everylifefoundation.org/rare-advocates/rare-disease-week/ - Join us next year! Be in cool pictures like this - https://twitter.com/rareadvocates/status/1631421473842667520 - https://twitter.com/RareAdvocates/status/1631038634936741890 - Here were our asks: - https://everylifefoundation.org/wp-content/uploads/2023/02/ELF-FY24-Appropriations_One-Pager.pdf - https://everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf - https://everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf - https://everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf #Sprint4Syngap - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ Listen to #S10e95 There is so much work to do, volunteer [email protected] [ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 96 of #Syngap10 - March 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95 It’s RARE DISEASE DAY! Hattie has a new video! https://www.syngapresearchfund.org/families/movies I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation - https://ncats.nih.gov/news/events/rdd - https://everylifefoundation.org/rare-advocates/rare-disease-week/ We have a $20k match! - https://syngap.fund/rdd23 - https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 Deadline for Grants is 3/1 - https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st #Sprint4Syngap - https://syngap.fund/sprint23 - Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy. Seven more ready to go. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ iPSCs & Missense Mutations/Variants - https://syngap.fund/ipsc - https://www.syngapresearchfund.org/ips-cell-models - 30 lines, 3 missense on the list, 1 more in Europe I know about - I urge you to raise for cell lines if you are a missense. $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied. 30% risk on the first line. There is so much work to do, volunteer - [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 95 of #Syngap10 - February 28, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

We have a $20k match! - https://syngap.fund/rdd23 - https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 #Sprint4Syngap - https://syngap.fund/sprint23 - Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 13 Teams! Four already raising funds: Team Tavilla, Team Naya, Hope4Hadley, Team Lizzy. Nine more ready to go. - Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/ Amazing Webinars - Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - Date TDB - https://syngap.fund/mckee Killer Blogs on Free Genetic Testing - Simons https://www.syngapresearchfund.org/post/136-support-simons-searchlight-2023-campaign-sign-up - How to get testing https://www.syngapresearchfund.org/post/137-how-to-get-free-genetic-testing-for-people-with-autism-special-needs-epilepsy - Why it matters https://www.syngapresearchfund.org/post/138-why-getting-a-genetic-diagnosis-matters-especially-for-syngap1 - List of things to do this year! https://www.syngapresearchfund.org/post/139-srf-attended-advanced-therapies-week-in-miami-when-will-you-go-to-a-conference-for-syngap1 PRAX-222 Day! - https://twitter.com/cureSYNGAP1/status/1628189201232699393 - https://clinicaltrials.gov/ct2/show/NCT05737784?term=seizures&cond=Epilepsy&sfpd_s=02%2F08%2F2023&sfpd_d=14&sel_rss=new14 Syngap Stories is on! https://www.syngapresearchfund.org/syngap-stories Ciitizen is over 200! Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 94 of #Syngap10 - February 23, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

-Beacon - EEGs are critical for us. https://beacon.bio/ -Diagnosis: Heather - Survey: https://syngap.fund/maybe - Learn about this here: https://www.syngapresearchfund.org/post/probably-genetic-three-month-program-update - #CouldItBeSYNGAP1 - https://sparkforautism.org/ - #s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE - OUAG - Testing Poem - Roses are red, Violets are blue You gave a diagnosis of #ASD, But that's not really true. https://twitter.com/onceuponagene/status/1623714824332128261 -Rare Disease Swarm - So many genes, moving so fast. - Tweet: https://twitter.com/JMGraglia/status/1625007454244462595?s=20&t=DptFQ_8zFEZSc-FmeG2R7w - Updated graphic: https://twitter.com/JMGraglia/status/1625013756714717184?s=20&t=DptFQ_8zFEZSc-FmeG2R7w - Hotels are cool, start planning for a great weekend in December in Florida now… - Short Link: https://syngap.fund/2023conf - Long link https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform -Grief: https://twitter.com/curesyngap1/status/1623934799009419265 - ENDD Webinar hosted by STXBP1 - Tweet: https://twitter.com/cureSYNGAP1/status/1624860304466415616 - Youtube: https://www.youtube.com/watch?v=uOcMAO4oVSE - More links in Episode 92 #S10e92 https://www.youtube.com/watch?v=AYMx0SbQ1H8 Ciitizen is over 200! Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 93 of #Syngap10 - February 12, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1 News https://twitter.com/cureSYNGAP1/status/1621293977579442177 Follow her https://twitter.com/navneetkmatharu And him https://www.linkedin.com/in/jordane-dimidschstein-a1114852 Yesterday, Penn announced a $25m grant to the ENDD Program which is a dream team.Announcement: https://twitter.com/curesyngap1/status/1623000399300153344?s=46&t=GQBKtxA44lny0qsvNyEkAw Prosser Webinar: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides Heller Webinar: https://www.syngapresearchfund.org/webinars/dr-elizabeth-heller-phd-upenn-understanding-syngap1 Ingo updated his famous gene timeline chart and included SYNGAP1 - we are on the map https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw Praxis had an earnings call, and it looks like they will have a big year and enough cash to get to next year. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-7 We have a new podcast! Yes, SRF was one of the first to create its own podcast and now we have two. https://www.syngapresearchfund.org/syngap-stories Grants are due on March 1 and we already have a few! https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st Rare Disease Day is end of month https://www.syngapresearchfund.org/post/133-what-is-rare-disease-day-why-is-it-the-last-day-in-february-syngap1 Three ways to raise money!We have a match for all donations this month up to $20k, donate! https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 Sprint for Syngap: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 MDBR: https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-million-dollar-bike-ride-mdbr-2023-for-syngap1 We have a clinical trials page. Check it out. https://www.syngapresearchfund.org/families/resources/clinical-trials Many other signs of progressRSRT Gene Therapy Announcement. https://twitter.com/cnsdrughunter/status/1617522729900707840?s=46&t=XW7hz9hgm6v3IAOPAmS_Kg Rare Revolution Magazine on Siblings. https://rarerevolutionmagazine.com/rare-reports/ Poison Exon Dance from the Carvill Lab. https://www.youtube.com/watch?v=jV3Ne0nmmNU Ciitizen is over 200! Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 92 of #Syngap10 - February 8, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Press is good! - Short link: https://syngap.fund/nw - Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362 Jo Ashline in Invitae: https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE Ciitizen is over 200! Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 Conference Videos are up from Science Day! https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable Grant applications due March 1, 2023 https://www.syngapresearchfund.org/professionals/grants/how-to-apply Priority Areas: - Biomarkers & Endpoints - VUS Resolution - Characterizing SYNGAP1 patients in the literature - SYNGAP1 Translational Science Help Research with this brief survey. Tell a friend and share these links - 200 & counting, $50 each. - Short link: https://syngap.fund/UCSF_survey - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 91 of #Syngap10 - January 31, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Seven Ways to help: - Post a video with a seizure - Take a 10 minute survey - Tell us how you feel about Simons and Rare-X - Signup for or Update Ciitizen - Signup for or share a Wednesday Warrior - Buy JR’s book and give it to someone - Plan your fundraiser this year Videos of kids with seizures. #SYNGAPseizure #biomarker Help Research with this brief survey. Tell a friend and share these links - 150 & counting, $50 each. - Short link: https://syngap.fund/UCSF_survey - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund Simons and Rare-X - What do you think? - https://syngap1.rare-x.org/ - https://www.simonssearchlight.org/research/what-we-study/syngap1/ Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 Another special Wednesday Warrior, please read - 17 year old - https://www.syngapresearchfund.org/syngap-warrior/eli-2 - https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story JR WEBINAR - MORE OF EVERYTHING - BOOK - Recording Available - https://syngap.fund/jr - Buy the book: https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL Congrats to the Stromgaard Lab on a big award. - https://twitter.com/cureSYNGAP1/status/1614948835067068416?s=20&t=KxO5w7Fk9MuOvc6wHyUWUw Thank you to Ingo for updating your graphic on genes - https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 90 of #Syngap10 - January 21, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89 JR WEBINAR - MORE OF EVERYTHING - BOOK - Thursday January 17, 2023 - https://syngap.fund/jr - Direct link: https://us02web.zoom.us/webinar/register/WN_EMzPKDWiRluBMmslT0wpdA ORCA Progress and Rare-X - Sign up now and if signed up, take the ORCA. - Login/Signup for Rare-X https://syngap1.rare-x.org/ - Take the ORCA Ingo’s CNS talk shows us what is possible with Ciitizen Data, other data. And how distinct SYNGAP1 is… Thread https://twitter.com/JMGraglia/status/1612978647107002368 Distinct https://twitter.com/JMGraglia/status/1612978675053658113 SYBGAP1 Poster https://twitter.com/JillianLMcKee/status/1600202742269501442 Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 All about Syndrome Management, let’s get beyond seizures. https://twitter.com/CNSdrughunter/status/1612863006148366356 PRAX-222 is number 3. So exciting. To see ASOs go into the Brain. Stoke with #SCN1A Ultragenyx with Angelman Syndrome Praxis with #SCN2A via #PRAX222 Who will 4 be? Will it be #CDKL5? #STXBP1? SYNGAP1? Very special Wednesday Warrior, please read - 19 year olds https://twitter.com/cureSYNGAP1/status/1613263197930422272 Ellen’s Dx Journey - 40 year old https://www.syngapresearchfund.org/post/131-is-it-genetic-my-40-year-journey-of-misdiagnoses-for-my-son This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 89 of #Syngap10 - January 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

NEW GRANT - Cobb & Kind #AAV Grant by SRF US & UK LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016828620451053568 Twitter https://twitter.com/cureSYNGAP1/status/1611059709301362688 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02McP84y7CP3FuGVS9huTGmP7A5NBGr6AQn26pYih1y3WptpVuDkRD118V65NpMQrWl Announcement https://www.syngapresearchfund.org/post/pr-14-syngap-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences #RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS https://www.linkedin.com/in/allyson-berent-36621523/ Saving Ryan - #BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEEDED https://www.linkedin.com/posts/graglia_jpm2023-precisionmedicine-biotech-activity-7018331014909353984-NLLL GLOBAL #RAREBEARS FOR A KIDDO NEAR YEAR YOU https://www.rarescience.org/rare-science-partner/syngap1-research-fund/ #SYNGAP1 in BEYOND THE ION CHANNEL https://twitter.com/cureSYNGAP1/status/1611459555250311171 http://epilepsygenetics.net/2023/01/06/syngap1-three-things-to-know-in-2023/ #HELLERLAB FUNDED BY #MDBR FOR ANOTHER YEAR https://twitter.com/eahellerphd/status/1611414154946183169 #S10e14 https://www.youtube.com/watch?v=VpNJqjL0I-w #NOSPHARMA HAS #SYNGAP ON THE PIPELINE https://www.linkedin.com/posts/anmolsnagpal_nospharma-innovating-treatments-for-rare-activity-7017271522109083648-Oeip/ See #S10e75 https://www.youtube.com/watch?v=lWFLyqLLVQQ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 88 of #Syngap10 - January 10, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

SRF BY THE NUMBERS IN 2022 Twitter https://twitter.com/JMGraglia/status/1610633778015383552 Source https://www.syngapresearchfund.org/post/srf-2022-the-year-in-review-by-the-numbers GREAT PRESS Diagnosis of a 40 year old #SYNGAPian Twitter https://twitter.com/cureSYNGAP1/status/1610656947447169025 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02mur5g8SLEwjNNWafdQCzEJdUxRshVL4zwE1qRdZdHyTUHUrnFXU5D11JNJBew3Nkl LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016425793358626816 Inside Precision Medicine Profile Twitter https://twitter.com/cureSYNGAP1/status/1610793389544570882 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02xVVu69w4bAMA8kPe7kcAVg6HkvVrMcsEmBmMM56wxWCu7VbUHpAunr5YgNMPVwgrl Linkedin https://www.linkedin.com/posts/curesyngap1_rare-parents-tackling-rare-diseases-activity-7016560489325375488-prUZ DNAtoday Podcast LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7014595296269586432 Twitter https://twitter.com/cureSYNGAP1/status/1608911995625164800 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02V5WJnsGZaVj1MR9fotCY2NGEAuWZoNPKrmFf5YaWuQjhSRL3WM6BiHtf63KGFfAcl Source https://dnapodcast.com/episodes/2022/12/30/217-syngap1-with-mike-graglia-and-elli-brimble DEANNA IS AMAZING Wednesday Warrior https://www.syngapresearchfund.org/families/support/syngap-warriors Sign up to be a warrior https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story Photos https://twitter.com/JMGraglia/status/1610790226607366144 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 87 of #Syngap10 - January 4, 2023 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

PRE-REGISTER FOR NEXT YEAR https://twitter.com/cureSYNGAP1/status/1608462863819067397 https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform Buy this book on Amazon or on JR’s website - #MoreOfEverthing by JR https://janiereade.com/ https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL JACKIE KANCIR STORY https://www.facebook.com/cureSYNGAP1/posts/pfbid0gTTnF77VdbTirweTyKqKxHzDkNz66jUxxnvwMzjUxzwzFU1Q1U4HYrDywFMoBeAkl https://twitter.com/cureSYNGAP1/status/1608216895240671232?s=20&t=INvuB36y5oJM-bL_RKtscg https://www.linkedin.com/feed/update/urn:li:activity:7013986280099250177 CIITIZEN DATA BY CHOP https://twitter.com/JillianLMcKee/status/1600202742269501442 SIGN UP FOR CIITIZEN ciitizen.com/syngap1 SCIENCE DAY AGENDA https://twitter.com/sandysmith317/status/1598322472037801984 FAMILY DAY AGENDA 8:30 AM SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky 10:45 AM REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:15 PM GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:15 PM PRAXIS 1:40 PM TAKING ON BEHAVIORS - Jackie Kancir, SYNGAP1 Mom & Advocate 2:30 PM MORE OF EVERYTHING BOOK LAUNCH - Janie Reade, SYNGAP1 Mom & Author 3:20 PM SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky 3:45 PM SRF YEAR IN REVIEW - Rebecca, Peter, Pavel 4:30 PM LOOKING TO THE FUTURE - Mike 6:30 PM COMMUNITY DINNER This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 86 of #Syngap10 - December 29, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85 Dr. Grinspan on AES https://www.neurologylive.com/view/partnering-clinicians-parents-motivator-pediatric-epilepsy-research-zachary-grinspan Ana Mingorance on SYNGAP1 and #EscapeVelocity https://www.draccon.com/dracaena-report/aes2022 Dr. Dennis Lal on AES & Genetics https://twitter.com/LalDennis/status/1600617199110070286 Mike’s Talk at AES https://twitter.com/LouisTDang/status/1598753675714887684 https://twitter.com/IDreamofGenes/status/1598753872172191745 https://twitter.com/john_oldenhof/status/1598756993073717249 CAMP4 Poster by Ali Al Abdullatif, MsC https://twitter.com/camp4tx/status/1601222388317917186 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 85 of #Syngap10 - December 29, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

#ImpatientOptimism is the appropriate feeling for this moment… #S10e84 Targeting Epilepsy Meeting at St. Jude: https://www.stjude.org/research/initiatives/pediatric-translational-neuroscience-initiative/targeting-epilepsy-translating-advances-in-research-to-genetic-epilepsy-therapy.html Praxis and PRAX-562 for #SCN2A and #SCN8A https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-advance-prax-562-phase-2-study Go Team Canada and Overcome for Bowie Small Molecule Grant! https://www.eurekalert.org/news-releases/960181 https://twitter.com/cureSYNGAP1/status/1597268138793762817?s=20&t=g1cxR6D2qqzIp-6-q6sY3g John Oldenhof, an #STXBP1 dad talks about two key points. https://www.biopharmaservices.com/blog/research-roundtable-for-epilepsy-a-reflection-by-dr-john-oldenhof/ #S10e83 on Stoke and TimeOnDrug https://www.youtube.com/watch?v=7uK2dCs53Ew #GivingTuesday - Support SRF! https://secure.givelively.org/donate/syngap-research-fund-incorporated/givingtuesday-2022 Genomenon: https://www.streetinsider.com/Press+Releases/Genomenon+Partners+with+Three+Rare+Disease+Foundations+to+Advance+Precision+Drug+Development/20904631.html Combined Brain: https://combinedbrain.org/ Thank you Heather and Spark! https://sparkforautism.org/discover_article/autism-answers-research/ https://twitter.com/cureSYNGAP1/status/1597348804021583872?s=20&t=g1cxR6D2qqzIp-6-q6sY3g This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 84 of #Syngap10 - November 29, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

#ASO in episode #S10e80: https://youtu.be/xeo94GViXiw?t=240 I am #StokedAboutStoke BW Press Release with Link to their presentation: https://www.businesswire.com/news/home/20221114005268/en/Stoke-Therapeutics-Reports-Third-Quarter-Financial-Results-and-Provides-Business-Updates Stoke announced partnership with Acadia in Episode 43 of Syngap10… https://www.youtube.com/watch?v=jElXobgYfCQ Register for our meeting on December 1 in Nashville: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path Further reading: - STOK Stock https://www.google.com/finance/quote/STOK:NASDAQ?window=1M - Recent paper on ASOs: https://www.karger.com/Article/Pdf/517686 - Dr. Kimberly Parkerson of Stoke Therapeutics offers an update on their BUTTERFLY observational study as well as their MONARCH and SWALLOWTAIL studies https://www.youtube.com/watch?v=xHCYFDSwf-o This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 83 of #Syngap10 - November 22, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Soiree: incredible, Boston: Fabulous & two todos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82 ATLANTA was an incredible event and a success for more reasons than you think - Check out this video: https://www.youtube.com/watch?v=NEEob7CzlfY - Family connection is everything - Raised funds from Atlanta community, it’s us folks. Real but not True: https://www.psychologytoday.com/us/blog/finding-true-refuge/201702/real-not-true BOSTON dinner, last night, was magical too. Check out this video: https://www.facebook.com/634352803/videos/512400737470459/ You have a WEEK to do RARE-X! Data to be shared at our meeting. https://syngap1.rare-x.org/ They will pull the data on Nov. 25th. Send Summer a photo: [email protected] Today! Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient 188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA” NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path 8-8:30 WELCOME AND BREAKFAST - Lauren 8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler 11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:00-12:30 LUNCH 12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:30-1:55 PRAXIS - Title TBD 1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir 2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR 3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga 3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich 4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia 6:30-8:30 Community Dinner @ Deacon's New South JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 JOIN US - 12/2 DINNER: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - November 10, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient 188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA” NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path 8-8:30 WELCOME AND BREAKFAST - Lauren 8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler 11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:00-12:30 LUNCH 12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:30-1:55 PRAXIS - Title TBD 1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir 2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR 3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga 3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich 4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia 6:30-8:30 Community Dinner @ Deacon's New South JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 JOIN US - 12/2 DINNER: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner GENETIC THERAPY UPDATES #S10e80 https://youtu.be/xeo94GViXiw :-) https://www.nytimes.com/2022/11/09/health/pompe-disease-treatment.html :-/ http://www.cureffi.org/2022/11/01/asos-hydrocephalus/“we are working to develop an ASO against PRNP as a therapy for prion disease… Overall, it’s hard to know whether there exists an association between nusinersen and hydrocephalus; if there is, the effect size is not huge and the frequency appears low. No patients appear to have died from it. I don’t believe that the tragic results reported for valeriasen should hold us back from bringing a prion disease ASO into trials. But, this is one more reminder that clinical trials are experiments, and the first-in-human dose of a drug is really the starting line and not the finish line.” SMA: THREE DRUGS! BIG Pipeline. https://www.curesma.org/sma-drug-pipeline/ Angelman Trials: 3 recruiting. https://clinicaltrials.gov/ct2/results?cond=Angelman+Syndrome&term=&cntry=&state=&city=&dist= Dravet Trails, 7 recruiting, 1 is ASO with Stoke. https://clinicaltrials.gov/ct2/results?cond=Dravet+Syndrome&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt= CANNONBALL 2.0 - $156,802 Listen to the Radio interview! https://www.syngapresearchfund.org/cannonball This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - November 10, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ Thx Alok: https://twitter.com/aloktayi/status/1587093289156517888 CANNONBALL 2.0 - $156,802 Press: https://www.cnbc.com/2022/10/29/dads-road-trip-for-syngap1-raised-150000-for-rare-genetic-disease-.html Total: https://www.justgiving.com/fundraising/ufd-cftc-2022 Tweet: https://twitter.com/UFDTech/status/1585640994652889089 Interview with Prosser: www.youtube.com/watch?v=gFLEj_Uq1k8 Interview with Rarebase: https://www.youtube.com/watch?v=HuUjJ7XyXhU #S10e79 https://www.youtube.com/watch?v=VDTwnaq9qIU FOUR EVENTS LA: 11/1: https://epilepsyawarenessday.org/event-info/information/ ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap BOSTON: 11/13 Call Sandy. NASHVILLE 12/1 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 Another incidence paper! Thanks Maddie Gillentine, PhD: https://twitter.com/maddieag/status/1586421844566908928 4/100 number: https://twitter.com/maddieag/status/1586422427076022273 ASOs ASO 101 - 12 minute mark: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides Sad news KCNT1 News: https://twitter.com/cureSYNGAP1/status/1585613781467484160 Response: https://twitter.com/KCNT1_Epilepsy/status/1585616246132936705 Trials are afoot: Dravet with Stoke: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-presents-data-phase-12a-monarch-study-stk-001 Angelman: https://www.tandfonline.com/doi/full/10.1080/13543784.2021.1939674 Minor Miracle - Milasen - https://www.wired.co.uk/article/milasen-aso-gene-therapy This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - October 31, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

CANNONBALL! Donate now, it’s matched: https://www.justgiving.com/fundraising/ufd-cftc-2022 Brett talking about CB2 https://www.youtube.com/watch?v=2Wb0RO74UIo UPenn interview https://www.youtube.com/watch?v=gFLEj_Uq1k8 Twitch: https://www.twitch.tv/ufdisciple Brett: https://twitter.com/UFDTech Peter: https://twitter.com/phalliburton Kevin: https://fryereeves.com/kevin-w-frye/ VISITS Pavel: https://twitter.com/SydneyStel/status/1584233335554854915/photo/2 Sydney: https://twitter.com/SydneyStel/status/1583079166014263296?s=20&t=YGu_OlFePZ5_jEhZvMj97g Rebecca: https://twitter.com/SydneyStel/status/1584233335554854915/photo/3 Virginie: https://twitter.com/McNamarVirginie/status/1583871153231183872?s=20&t=YGu_OlFePZ5_jEhZvMj97g Lauren: https://twitter.com/UFDTech/status/1584003603463045120?s=20&t=YGu_OlFePZ5_jEhZvMj97g RAREBASE https://www.rarebase.org/ AMAZING PRESS TV - CBS - NY https://www.cbsnews.com/newyork/news/dads-take-dares-for-donations-on-cross-country-road-trip-raising-money-for-syngap1-research/ FORBES https://www.forbes.com/sites/billroberson/2022/10/21/electric-cannonball-run-dads-drive-a-tesla-model-y-cross-country-to-fight-a-disease-affecting-their-sons/ FOX https://www.foxnews.com/us/dads-drive-across-country-expand-awareness-kids-rare-disease TONY https://threadreaderapp.com/thread/1582766217810493441.html UPCOMING EVENTS NOVEMBER IS GIVING SEASON! 3 Weeks: - November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap - November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 6 Weeks: December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 79 of Syngap10 - October 23, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

EVENT RECAPS October 8th -New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap UPCOMING EVENTS 8 Days: - October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 4 Weeks: - November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap - November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 7 Weeks: December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 78 of Syngap10 - October 13, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY! https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984 https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3 GRANT ALERT Coller mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873 COMPANY UPDATE Stoke Tx https://www.stoketherapeutics.com/ Praxis Medicine https://praxismedicines.com/ Rarebase https://www.rarebase.org/ Beacon Biosignals https://beacon.bio/ Jaxon Labs - 2 Mice in Progress. https://secure.givelively.org/donate/syngap-research-fund-incorporated/patient-derived-mice-models-at-jax Ionis - See Prosser Webinar! (Webinar 63) https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides https://www.syngapresearchfund.org/post/unite-to-bike-syngap-research-fund-rides-in-person-at-the-million-dollar-bike-ride Tevard https://tevard.com/ EVERY PATIENT MATTERS Census is now at 1,135 Patients. https://www.syngapresearchfund.org/post/123-syngapcensus-2022-update-37-in-q3-2022 https://twitter.com/cureSYNGAP1/status/1576246751974944768 GLOBAL FILE SRF Site is now in all Languages! Colombia/LatAmerica 🇨🇴- Vicky is amazing hosting a dinner at https://simposio.acmgen.org/ see - https://twitter.com/JMGraglia/status/1577319370081980416 - https://www.linkedin.com/posts/graglia_syngap1-activity-6983238494441672704-4ihv EVENTS ARE COMING NEXT WEEK on October 8th! New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap News Report: https://www.youtube.com/watch?v=a7sBTkL5KLo 2 Weeks: October 12-15 in OH - Child Neurology Society 3 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 6 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 8 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path etc. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 77 of Syngap10 - October 4, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

EVERY PATIENT MATTERS Lots of work with doctors these days. e.g. Tony: DOI: 10.1159/000492706 https://www.karger.com/Article/FullText/492706 e.g. Jaxon: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 WE ARE GLOBAL SRF Site is now in all Languages! Ukraine/Poland 🇺🇦🇵🇱- https://www.syngapresearchfund.org/post/122-a-letter-of-thanks-from-a-ukrainian-syngap-family #S10e72 Greece 🇬🇷- Greek framily from #S10e72 now working with expert in Spain. Thank you Dr. Aledo! Colombia/LatAmerica 🇨🇴- Vicky is amazing. https://simposio.acmgen.org/ Netherlands 🇳🇱- We have a Rare-X Platform and everyone should engage. Sign up at https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program Watch #S10e71 starting at 5:30 https://youtu.be/iPoOjKBwPfY?t=333 Sign up: https://syngap1.rare-x.org/ UK 🇬🇧- News coming. EVENTS ARE COMING 2 Weeks on October 8th! New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 3 Weeks: October 12-15 in OH - Child Neurology Society 4 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 7 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 10 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 76 of Syngap10 - September 25, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

GLOBAL GENES WAS GREAT Panel was impressive, will be sharing when recording is live, one point was small molecules… #GlobalGenes #CareAboutRare EVENTS ARE COMING 3 weeks! October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 8 weeks! November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 11 weeks! December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat RAREBASE Talked about this in #s10e27 https://youtu.be/r3bS9YepQ4s We are investing in small molecule repurposing as fast as we can. Four lines… Cannonball 2.0 is on! Checkout UFDtech on 21 October 2022! LINK#UFDtech #CannonballForTheCure #RareBase NOSPHARMA Talked about Bowie in #s10e69 https://www.youtube.com/watch?v=xl_r4hoDlf8 Nospharma leverages unique biological causes of brain disorders within the context of what is already known, to deliver effective treatments. By placing biology-first, we've created new drugs and repurposed on-the-market drugs to improve treatment success. We aim to deliver the most effective therapeutics for some of the most severe brain disorders, as quickly as possible. …from https://www.linkedin.com/company/nospharma/ #NOSpharma SIMONS/INVITAE PARTNERSHIP Two of the most important players in the Rare Epilepsy Ecosystem are partnering and it’s great news for SYNGAP1 and SRF. https://www.prnewswire.com/news-releases/invitae-and-simons-searchlight-partner-to-accelerate-research-through-data-sharing-301621469.html Tweet: https://twitter.com/cureSYNGAP1/status/1569326298790789122 #SimonsFoundation #Autism #Invitae #ciitizen Satterstrom paper associates SYNGAP1 with Autism strongly https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250485/ See figure 2B https://pubmed.ncbi.nlm.nih.gov/31981491/#&gid=article-figures&pid=figure-2-uid-1 AUTISM BRAIN NETWORK Webinar: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Site: https://www.autismbrainnet.org/ etc. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 75 of Syngap10 - September 18, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Praxis + Ciitizen = PROGRESS #S10e74 PRAXIS & CIITIZEN Webinar On-Demand Registration - https://pages.questexinfo.com/invitaereg09082022/ Twitter - https://twitter.com/cureSYNGAP1/status/1568223901628637184?s=20&t=_UdtyirDq-dfLJD9Eo3GPw/ Facebook - https://www.facebook.com/cureSYNGAP1/posts/pfbid02usJYQPSQEr5yrUkhkfmcwhfit6WLgUFK56VXCaEVypCuVvxNb74pnkTiXqgZsdFtl/ LinkedIn - https://www.linkedin.com/feed/update/urn:li:activity:6973995629647720448/ LEON Light a candle for Leon here https://www.bestattung-huettner.at/sterbefall/52048/?action=gedenkkerzen GRANTS So much good news coming. We need to raise more money! Please see list below! GLOBAL GENES IS NEXT WEEK! If you can’t come in person, register virtually! https://globalgenes.org/event/rare-patient-advocacy-summit/ STUFF I DIDN’T TALK ABOUT BUT WILL SOON - Rarebase - EXN ;-) This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 74 of #Syngap10 - September 9, 2022 #GlobalGenes #PRAX090 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

SRF Page on Leon - https://www.syngapresearchfund.org/leon SRF Grant with Leon & Friends - https://www.eurekalert.org/news-releases/957967 Light a candle for Leon - https://www.bestattung-huettner.at/sterbefall/52048/ SRF on Social for Leon -https://www.facebook.com/cureSYNGAP1/posts/pfbid0RqALzmaTh8zGeT1KMUbfiXgv9o7PPR2JJPcZNPpR91ce7tYz5foWmb47652r8c2Ml - https://twitter.com/cureSYNGAP1/status/1564626096640901121 - https://www.linkedin.com/feed/update/urn:li:activity:6970394298483630080 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 73 of #Syngap10 - September 2, 2022 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

0. SUPPORT OUR PATIENT IN UKRAINE Fundraiser: https://secure.givelively.org/donate/syngap-research-fund-incorporated/help-syngap-family-escape-ukraine/ Tweet: https://twitter.com/JMGraglia/status/1563362473327005698 1. LONGBOARD PHARMA & RAREBASE Watch #S10e71 https://www.youtube.com/watch?v=iPoOjKBwPfY 2. SEIZURE TRACKER Watch #S10e70 https://youtu.be/g6R9ejJnYbw More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker 3. WEBINARS PRAXIS & INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides 4. COME TO THE CONFERENCE Register: https://Syngap.Fund/Treat Book a room: Link on the registration page. 5. LOTS OF EVENTS TOO! 2 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 5 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 5 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 10 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 13 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 72 of #Syngap10 - August 27, 2022 #SalvaUkrani #helpneeded #Stoke #Acadia #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

0. RAREBASE https://www.rarebase.org/ We announced a partnership at year ago, check out #S10e27 https://www.youtube.com/watch?v=r3bS9YepQ4s Now we are doing phase 2… stay tuned. 1. LONGBOARD PHARMA https://www.longboardpharma.com/ STUDY- https://pacific.researchstudytrial.com/ (Shared in #S10e65 - https://www.youtube.com/watch?v=hSK21-y8fQI) TALK - https://www.youtube.com/watch?v=s7l7wnrEX5E (Link shared in #S10e67 - https://www.youtube.com/watch?v=dVpl1UEBVXA) 2. SEIZURE TRACKER Watch #S10e70 https://youtu.be/g6R9ejJnYbw More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker 3. WEBINARS PRAXIS INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides 4. REGISTRIES: CIITIZEN, SIMONS, RARE-X CIITIZEN FIRST in US (MEDIAL RECORDS) Sign up at https://Ciitizen.com/SYNGAP1 Refresh by logging into https://app.ciitizen.com Profile update: https://intercom.help/ciitizen-corp/en/articles/6421786-ciitizen-profile-update SIMONS GLOBALLY (GC INTERVIEWS) Simons Searchlight participants can be from any country, as long as they speak English, Spanish, French or Dutch. Click Join Us on https://www.simonssearchlight.org/research/what-we-study/syngap1/ RARE-X (QUESTIONS) Sign up: https://syngap1.rare-x.org/ Webinar: https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program 5. COME TO THE CONFERENCE Register: https://Syngap.Fund/Treat Book a room: Link on the registration page. 6.COVID DEE SURVEY https://www.surveymonkey.com/r/DEEsCOVID19 7. LOTS OF OTHER EVENTS TOO! 3 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 6 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 6 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 11 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 14 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 71 of #Syngap10 - August 23, 2022 #PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

REFRESH RECORDS COLLECTION Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect. SIGN UP FOR TRACKER SURVEY If you are signed up for ciitizen, you have an email from “Invitae Research Studies - [email protected]” The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study” DO IT EVERY DAY FOR 30 DAYS WATCH THE WEBINAR (Number: 64) FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/ YT: https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker/ IF YOU HAVEN’T ALREADY, SIGN UP FOR CIITIZEN www.ciitizen.com/syngap1 LEARN ABOUT PRAXIS: https://www.youtube.com/watch?v=Kh7O1bxXsSE KEY REMINDERS FUNDRAISERS BOWIE/ID in US syngap.fund/bowie BOWIE/ID in CANADA syngap.fund/overcome MICE: Help us Make 2! https://syngap.fund/2mice BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS 4 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 8 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 8 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 9 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/ 13 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 13 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient 16 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 70 of #Syngap10 - August 12, 2022 #PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

First grant: You can learn more about the Courtney grant in episode 66? #s10e66 https://www.youtube.com/watch?v=_eVw6Oc_V_Y (Like these and subscribe to our YouTube channel). Second grant: Here is the press release and social media on the Bowie grant. - Facebook: https://www.facebook.com/cureSYNGAP1/posts/356581543313514 - Twitter: https://twitter.com/curesyngap1/status/1552642957546700800 - LinkedIn: https://www.linkedin.com/feed/update/urn:li:activity:6958432905563955200 - Press Release: https://www.eurekalert.org/news-releases/960181 1. We have LOTS of requests for support, many are good. So you should join us in supporting this one. 2. This is exciting - Quality and Focused - We said yes. The Bowie Grant story. Excellent and committed to SYNGAP1. Can’t help but like the guy. Key words from press release: Prof. Bowie believes that by correcting targets downstream of these synapses, a specific combination therapy can result in a common improvement of the ID phenotype. This grant will support his lab in investigating the efficacy of this therapy via SYNGAP1 mouse models…to test our idea of using a small molecule approach to target the molecular pathways giving rise to intellectual disability. I am excited to see what new insights this research will uncover. 3. Global Collaboration - Overcome and Campdraft/SRF-Australia Tax deductible Donations in TWO Countries for this grant: - US syngap.fund/bowie - CANADA syngap.fund/overcome 4. Reminder: Infrastructure is huge and it’s here for you. Don’t take for granted the work that is required to give you opportunities to fund. Diligence, Grants to leading researchers, Webpages, Tax receipts, funds flowing directly to well governed organizations. It’s here for you, fund the work! FUNDRAISERS - BOWIE/ID in US syngap.fund/bowie - BOWIE/ID in CANADA syngap.fund/overcome - MICE: Help us Make 2! https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 6 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/- fundraising/caren-leib-gala - 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 11 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/ - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 15 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient - 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 69 of #Syngap10 - July 29, 2022 #Bowie #McGill #IntellectualDisability #overcomesyngap1 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel). Monday - Invitae Announcement https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/default.aspx - Sign up for Ciitizen: https://syngap.fund/ciitizen - CMO email: “While the announcement focused primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy. We will continue to collaborate closely with our Patient Advocacy partners and communities to educate patients and their families on the value of genetic testing in diagnosing and potentially preventing disease. Together with you, we remain steadfast in empowering and supporting patients and highlighting the many opportunities where genetic testing may be beneficial. “ Pharmacogenetics in case you are curious: https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Launches-Expanded-Pharmacogenomics-Panel-and-Specialized-Mental-Health-Panel/default.aspx Tuesday - Prosser Pre-Print - Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including SYNGAP1 - “We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and non-sense mediated decay. Antisense oligonucleotides that disrupt PTBP binding sites on SYNGAP1 redirect splicing and increase gene and protein expression.” - https://twitter.com/cureSYNGAP1/status/1549408144987652104?s=20&t=u5iAtpoucdyaiT06Vt77pg Wednesday - Sample collection at Stanford. - Planning for end of year, see below. Thursday - CHOP Update - https://www.helbiglab.io/ - https://www.youtube.com/watch?v=JVTnkQCtQNo Friday - Disease concept interview, Rarebase & Colombia - WCMC is looking to add to the pile of disease concept studies, which we VERY MUCH need. For the pile see Vlaskamp 2019, Jimenez-Gomez 2019, Smith-Hicks 2021, Wright 2022, Lyons-Warren 2022. - https://www.rarebase.org/ - Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 7 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 11 Weeks: October 12-15 in OH - Child Neurology Society - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 16 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient - 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 68 of #Syngap10 - July 25, 2022 #Ciitizen #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

COMMUNITY Two blogs you must read: - Charlie https://syngap.fund/charlie - MDBR https://syngap.fund/unite Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w LEARNING Community is big, think Genetic Epilepsies, Remember the Dravet meeting? Well now you can go too: https://dravetfoundation.org/events/dsf-conference/ - Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o - Longboard: https://www.youtube.com/watch?v=s7l7wnrEX5E - Epigenyx: https://www.youtube.com/watch?v=a-fBOr1W3Dw - Ingo: https://www.youtube.com/watch?v=JVTnkQCtQNo Check out this trial: https://pacific.researchstudytrial.com/?utm_source=other&utm_medium=Longboard&utm_campaign=patient_recruitment&r=16 FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 8 Weeks: September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ - 11 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - 11 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 16 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 19 Weeks: December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 67 of #Syngap10 - July 18, 2022 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

#SyngapCensus for 2q22 is 1098! https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022 Incidence and Prevalence Article https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed GRANT TO COURTNEY LAB - Spread the word -Twitter: https://twitter.com/JMGraglia/status/1544634675808722946 -LinkedIn: https://www.linkedin.com/posts/curesyngap1_missense-collaboration-syngap1-activity-6950413553703030784-6VHG/ -Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02JshtwTaK1eSPJ4kUy9Ga1ZrQGAyvk7DyrK1tPWk5UauYDx8mTY8ENeYCUfCnPwXEl -Press Release: ​​https://www.eurekalert.org/news-releases/957967 GENETICS Missense: https://www.genome.gov/genetics-glossary/Missense-Mutation Protein Truncating: - Nonsense: https://www.genome.gov/genetics-glossary/Nonsense-Mutation - Frameshift: https://www.genome.gov/genetics-glossary/Frameshift-Mutation FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS -September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ -October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala -October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap -November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree -December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 66 of #Syngap10 - July 6, 2022 #CareAboutRare #Ciitizen #Ambry #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

WEBINARS - Susan on Fundraising: https://syngap.fund/susan - Go to the CIITIZEN Webinar tomorrow (June 29th @ 11:30 ET) https://syngap.fund/virginie - Sign up! https://www.ciitizen.com/syngap1/ FUNDRAISERS - SHARE & SUPPORT by Thursday, all funds matched in June! https://www.facebook.com/donate/435907651714018/336149052023430/ - MICE: Help us Make 2! https://syngap.fund/2mice DRAVET WAS AMAZING - Mike’s Tweet-threads about the event - Day 1 https://twitter.com/JMGraglia/status/1540061343813885952 - Day 2 https://twitter.com/JMGraglia/status/1540339186187788289 - Day 3 https://twitter.com/JMGraglia/status/1540709603406540803 - DSF https://dravetfoundation.org/ - Conference https://dravetfoundation.org/events/dsf-conference/ - Dr. Andrade / AGE - https://www.uhnresearch.ca/researcher/danielle-andrade - Dr. Perry & Dr. Papadelis at Cook Children’s - Article about Perry/Cook https://www.checkupnewsroom.com/rare-disease-day-carter--many-patients-treated-cook-childrens-syngap-rare-disease-seizures/ - Dr. Perry on the Twitter: https://twitter.com/TheNotoriousEEG - Link with the Dr. Papadelis study: https://www.cookchildrens.org/services/neurosciences-research/funding/ - Longboard - https://www.longboardpharma.com/ - https://pacific.researchstudytrial.com/ - Epigenyx - https://www.epygenix.com/ - Baraban Lab https://barabanlab.ucsf.edu/ - Clemizole Tweet https://twitter.com/JMGraglia/status/1540712480975884288 EVENTS September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 65 of #Syngap10 - June 28, 2022 #CareAboutRare #CureDravet #DSFinDFW #Ciitizen #LongboardPharma #Epigenyx #CookChildrens #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

TELL EVERYONE - New mom chat - Kali’s article and twitter - https://www.insider.com/my-child-diagnosed-rare-genetic-condition-syngap1-2022-6 - https://twitter.com/WorthKali - Tavillas: https://syngap.fund/susan (6/22/15) CHECK OUT THIS CONFERENCE: https://syngap.fund/treat DRUG CO NEWS - Anglemans and Ionis! https://www.prnewswire.com/news-releases/ionis-treatment-for-angelman-syndrome-receives-orphan-drug-and-rare-pediatric-disease-designations-from-us-fda-301566169.html - Praxis update: At the end, scroll down. CIITIZEN - Webinar was awesome https://syngap.fund/virginie - Sign up! https://www.ciitizen.com/syngap1/ PROBABLY GENETIC IS WORKING! - Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/ - Webinar: https://syngap.fund/PG - Sponsored testing with Mahzi! https://mahzi.com/ REMEMBER NOT TO MISS - June 2022 https://mailchi.mp/syngapresearchfund.org/june22 - Sign up for the EF Panel: https://bit.ly/efmen FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. - September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 64 of #Syngap10 - June 14, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Praxis #ProbablyGenetic #Mahzi Copy from letter from Praxis: Monday morning, June 6th, we published an 8K filing announcing news involving multiple programs at Praxis Precision Medicines. One of these announcements pertained to the FDA’s clinical hold on our recent IND filing for PRAX-222 in SCN2A, so we wanted to share further context for it. On May 25, 2022, the Company received a communication from the U.S. Food and Drug Administration (the “FDA”) providing additional information on the clinical hold placed on the Company’s Investigational New Drug application (the “IND”) for the study of PRAX-222, an antisense oligonucleotide, for the treatment of patients with SCN2A gain-of-function mutations. The communication indicated that our IND could be cleared once we submit additional documentation related to the preclinical non-human primate toxicology study that supports the proposed starting dose in the clinical study. We’re requesting a Type A meeting with the FDA to confirm the study design and further clarify the requirements for dose escalation beyond the starting dose. This surely will leave our SCN2A community with questions about the timing of our path forward. While the protocol and the discussions being held with the FDA remain confidential, we will do our best to maintain transparency and responsiveness throughout the process. We continue to be fully committed to advancing PRAX-222 to clinical study. We also want to restate that this news is specific to PRAX-222, without impact on our PRAX-562 program for SCN2A, SCN8A and TSC. In Monday’s press release, we reiterated our focus on driving toward proof of concept for PRAX-562. We’ll provide further updates on PRAX-562 as we approach major milestones on this path. In addition, our other programs in PCDH19 and SYNGAP1 remain on-track. Beyond epilepsy, Monday’s 8K filing announced significant news pertaining to our Aria study of PRAX-114 in Major Depressive Disorder (MDD). It is with great regret that we announce the failure of the Aria Study, a study to determine the efficacy of a GABBA PAM extrasynaptic preference medicine to achieve fast-acting, lasting reduction of symptoms of MDD. After reviewing the data and our operational controls and observing failure to achieve our primary endpoint, we determined that PRAX-114 was indeed safe but not efficacious, and no further research and development of PRAX-114 is warranted. This conclusion has a negative impact on the study of PRAX-114 to treat Post-Traumatic Stress Disorder and Essential Tremor. This is a difficult decision for the Praxis team; but our commitment and capacity to researching and developing genetic insight-based treatments for people living with disorders of the CNS is in no way diminished.

CHECK OUT THIS CONFERENCE: https://syngap.fund/treat PROBABLY GENETIC IS WORKING! - Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/ - Testing: syngap.fund/ambit - https://www.ambitcare.com/registration-syngap-research-fund - Webinar: https://syngap.fund/PG - Thursday, June 9th at 9am PT/Noon ET/5pmBST DON’T MISS OUR NEWSLETTER - June 2022 https://mailchi.mp/syngapresearchfund.org/june22 - Sign up https://www.syngapresearchfund.org/families/newsletters - Please make sure we are not going to Spam #FATHERHOOD & RARE - Sign up for the EF Panel: https://bit.ly/efmen - https://us06web.zoom.us/webinar/register/WN_Iv8d06ffT_uDbRDXAAWKOg - SFN Dad To Dad Podcast: https://www.spreaker.com/user/specialfathers/dad-to-dad-204-mike-graglia LINKS FORM EF #PIPELINECONFERENCE 2022 - Agenda: https://www.epilepsy.com/research-funding/pipeline-conference - Kayak study for #SCN8A: https://kayakstudy.com/ - #Prax562: https://www.globenewswire.com/news-release/2022/01/18/2368578/0/en/Praxis-Precision-Medicines-Announces-Publication-of-Preclinical-Data-Highlighting-Differentiated-and-Potent-Antiepileptic-Activity-of-PRAX-562.html - $PRAX https://seekingalpha.com/news/3845864-prax-stock-on-watch-as-lead-asset-fails-in-depression-trial - Engrail: https://www.businesswire.com/news/home/20220607005544/en/Engrail-Therapeutics-Announces-Positive-Results-of-ENX-101-Phase-1b-Clinical-Study-and-Prepares-for-Initiation-of-ENACT-Phase-2-Trial-in-Focal-Epilepsy FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 63 of #Syngap10 - June 7, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Engrail #Praxis #Neurocrine #ProbablyGenetic #AmbitHealthcare

OUR LEADERS ROCK - Thank you to the US Board https://www.syngapresearchfund.org/home/our-team/meet-the-team-board-of-directors - Thank you to the UK Trustees https://www.syngapresearchfund.org/home/our-team/team-srf-united-kingdom - Thank you to the EU Board https://www.syngapresearchfund.org/home/our-team/team-srf-eu - Thank you to Fondo Syngap https://www.syngapresearchfund.org/home/our-team/fondo-de-investigacion-syngap PROBABLY GENETIC IS WORKING! - https://syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap WEBINARS - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd - 10am PT/1pm ET/ 6pm BST - Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th @ 9am PT/ Noon ET/5pm BST - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly was great, watch the recording! FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267 - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. - September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. - October 8 in NJ - Caren Leib Gala - https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP - https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 62 of #Syngap10 - May 28, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

LET’S FIND MORE PATIENTS (of color) - https://www.syngapresearchfund.org/syngap-warrior/ethan - https://syngap.fund/maybe -> https://symptom-checker.probablygenetic.com/syngap/ WEBINARS - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” - https://syngap.fund/Holly- Thursday, May 26th 9am PT/12pm ET/5pm BST - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” - https://syngap.fund/Splice - Thursday, June 2nd/10am PT/1pm ET/6pm BST - Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th - 9amPT/Noon ET/5pm BST FUTURE IS COMING - Went to PMC last week and it was epic https://twitter.com/JMGraglia/status/1527311983069908992?s=20&t=lV5BL43vS5h8LrYlPWjbTQ #permedconf GETA was GREAT https://www.geneticepilepsyteam.com.au/conference-2022/livestream/ STOKE NEWS Tango with Ed. https://globalgenes.org/rare-cast/episode-387/ NEW GRANT in FINLAND! https://twitter.com/SyngapNetwork/status/1527660584011022336 FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267/ - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 61 of #Syngap10 - May 23, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis

PREPRINT - SRF Tweet https://twitter.com/cureSYNGAP1/status/1524110425494745088 - Actual paper: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v2 WEBINARS - #Syngap Grandparent and USC Law Professor, Richard Peterson did an amazing job, check out his slides and watch the presentation at https://syngap.fund/IDEA - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly/ - Thursday, May 26th 9am PT/12pm ET/5pm BST - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd 10am PT/1pm ET/6pm BST FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers STORYTELLING Watch these incredible sessions from our friends at DSF. And practice telling your story. #PRAXIS NEWS Here is the thread on Praxis with the updates! https://twitter.com/cureSYNGAP1/status/1521852433713950721 #HUNTERSYNDROME - Kim’s comments: https://www.facebook.com/571178176/posts/10158874132988177/ - Press release: https://www.biospace.com/article/takeda-drops-hunter-syndrome-therapeutic-changes-tactics- GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 60 of #Syngap10 - May 13, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis

Congrats to everyone who did #Sprint4Syngap. Thanks to Stoke for joining! https://twitter.com/StokeTx/status/1523651977594703872 WEBINAR: This Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson. Register at https://syngap.fund/IDEA STUDY: Have you signed up for the Eye Tracking study yet? https://syngap.fund/eyetrack TWITTER: Here is the thread on Praxis: https://twitter.com/cureSYNGAP1/status/1521852433713950721 GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 MICE: Help us Make 2! https://syngap.fund/2mice RESEARCH: Ben talking about his SYNGAP1 work: https://www.youtube.com/watch?v=U6Z4UDYgGi4 EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 59 of #Syngap10 - May 9, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Praxis included SYNGAP1 in their Epilepsy Day Press Release and indicated they expect a candidate for SYNGAP1 in 2023! https://www.globenewswire.com/news-release/2022/04/27/2430231/0/en/Praxis-Precision-Medicines-Showcases-Largest-Targeted-Epilepsy-Portfolio-in-Industry-at-2022-Epilepsy-Day.html Links mentioned -SRFRT1: https://www.syngapresearchfund.org/post/standing-room-only-at-srf-1st-annual-syngap-roundtable-srfrt -Praxis: https://praxismedicines.com/ -Steve fully dedicates his time to Praxis: https://www.globenewswire.com/news-release/2021/12/02/2344901/0/en/Praxis-Precision-Medicines-Announces-Management-Team-Appointments.html -RogCon: https://www.rogcon.com/company/#partners EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ 2nd Annual Sprint4Syngap was a global success! Still time to donate: https://syngap.fund/sprint2022 and check out this thread on Twitter to see all the events: https://twitter.com/cureSYNGAP1/status/1520606983241437187 WEBINAR: Next week on Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson. Register at https://syngap.fund/IDEA This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 58 of #Syngap10 - May 2, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology