CURE SYNGAP1 PODCAST aka SYNGAP10

We need funding to make incredible science happen faster, so go listen to Dr. Anderson on Thursday and then help us raise some money on Saturday! THURSDAY Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg SATURDAY 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 I went to the bootcamp last week! https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ We need great clinicians, let us know if you find one: https://Syngap.Fund/Docs 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 57 of #Syngap10 - April 25, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

First, because patient data is organized, we have 172 people signed up for Ciitizen, make sure you are part of the first 200! Sign up now at https: www.ciitizen.com/SYNGAP1 Second, because there is a credible partner to help them work with patients, researchers and clinicians, see www.SyngapResearchFund.org ;-) We do cool things like get ICD-10 codes. I got ANOTHER call (google #S10e48 & #S10e54) about ICD-10 codes. We are so lucky to have this code, USE IT. F78.A1 Third, because they believe they will find more patients and we believe that too. Here are three ways we are working on this: First, we are working on reaching out to the communities of color to increase genetic testing for NDDs. If you know someone who would like to support another SRF Movie, please let us know. Second, we need to resolve VUS patients. There are too many VUS patients with SYNGAP1. That is low hanging fruit for finding more patients. Third, our work with Probably Genetic is going well. Over 1,750 people have taken that survey and we are going to reach out to ~80 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe Check out this wonderful video from the Kyle and Kelli channel! https://www.youtube.com/watch?v=9KKi_1QG4FU This is the article about the meeting Mike will be joining this week to represent the SynGAP community: https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ Dates you need to know: Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 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 56 of #Syngap10 - April 18, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

#Sprint4Syngap is just 3 weeks away! #S10e55 Special guest host, Peter Halliburton, Development Director at Syngap Research Fund and Syngap dad. Sprint4Syngap - Learn more at http://Syngap.fund/sprint - What is Sprint4Syngap? SRF’s annual fun run fundraiser. - Create a team http://Syngap.fund/sprint2022 - Banners http://Syngap.fund/banner Fundraising For a Cause - Dr. Michael Courtney, University of Turku in Finland - $180k joint grant with Leon & Friends to focus on missense variants. https://bioscience.fi/research/neuronal-signalling-pathways/profile - Dr. Zach Grinspan, Weill Cornell Medicine - $270k grant looking at clinical trial for drug Ravicti showing promising results in other central nervous system disorders. https://vivo.weill.cornell.edu/display/cwid-zag9005 - Rarebase will be coming back to us with a non-trivial sum for their drug repurposing screen. https://www.rarebase.org/ Questions? Reach out to Peter! [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 55 of #Syngap10 - April 9, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Sprint4Syngap

Census was launched today: https://www.syngapresearchfund.org/post/syngapcensus-2022-update-70-in-q1-2022 Industry news! - Fintepla for LGS! Great news for our LGS folks. https://twitter.com/cureSYNGAP1/status/1508573464810074113 - Tevard licensed tech from Prof. Jeff Coller. https://twitter.com/TevardB/status/1509511595663282178 We announced models to two labs with RDMM and Hasan, thank you! https://www.syngapresearchfund.org/post/syngap-research-fund-srf-announces-grants-to-dr-kurt-haas-and-dr-graziella-dicristo-in-partnership-with-canadas-rare-diseases-models-and-mechanisms-network-rdmmn Thank you Julie for your help making mice, we are really having fun accelerating science. Thank you JR, Hans and Marta for joining meetings with a company to talk about other options for SRF. All costs $. Global: Victoria is at Dravet in Spain with Katrien from the Netherlands. How cool is that? Denmark is next week. BTW, remember episode 48 (google #S10e48) I got another call, the ICD-10 debacle continues. We are so lucky to have this code, USE IT. I had two meetings this week looking at health economics, this code is showing up and it is going to help us understand cost and find doctors. USE THE CODE… F78.A1 Probably Genetic, our partnership there continues and good things are coming, over 1,000 people have taken that survey and we are going to reach out to 40 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe Advice time: Build #TeamYourKidOur kids don’t get simpler or smaller Babysitters and community members who know them now are their advocates later Double up on Neuros (unless you being seen by rockstars who are close)Everyone needs a good local neuro, few have them, so keep that relationship, both for higher quality care and for someone close in emergencies. If you have the time and the insurance, it's also a good idea to also be seen by a regional medical center. This is for three reasonsSecond opinions never hurt The regional folks will see more patients and are in an academic setting, so they are more likely to see patterns and publish case studies. When it's clinical trial time, companies won't call local doctors, they will call regional medical centers, you want to be on their list. Reminder in last episode (google #S10e53) for all the events this year, but coming up fast: Jackie’s webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 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 54 of #Syngap10 - April 1, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Three events to plan on: Jackie’s webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Here are the dates to think about for the rest of the year… April 7-8 5th Dianalund International Conference on Epilepsy - Implementing Epilepsy Genetics in Clinical Practice Denmark April 30 Sprint for Syngap Worldwide May 13-15 EpiCon Convention Nashville, TN June 5 – 6 Epilepsy Foundation Pipeline Conference Santa Clara, CA June 11 Million Dollar Bike Ride Philadelphia, PA June 21 Splash for Syngap Worldwide June 23-25 2022 DSF Family & Professional Conference Fort Worth, TX June 25 Dr. Perry presenting exclusively to Syngap1 families Fort Worth, TX July 11-13 World Orphan Drug Congress Boston, MA September 26 Global Genes Patient Advocacy Summit San Diego, CA October 8 Scramble for Syngap Travelers Rest, SC October 8 2nd Annual Caren Leib Gala New Jersey Oct 31-Nov 1 Epilepsy Awareness Day Expo Anaheim, CA November 2 Epilepsy Awareness Day Disneyland Anaheim, CA November 12 Sparks of Hope Atlanta, GA November 29 Giving Tuesday Worldwide December 1 Scientific Meeting hosted by SRF Nashville, TN December 2-6 AES & the 4th Annual Synapse Roundtable Nashville, TN Thank you to #UFDTech for your fundraiser today, check it out: https://www.youtube.com/watch?v=Whkborgb-90 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 53 of #Syngap10 - March 25, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

SRF UK is taking off, support Trustee Ray’s fundraiser https://www.justgiving.com/fundraising/srfuk SRF Cell Line project is working! https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 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 52 of #Syngap10 - March 21, 2022 #s10e52 #Ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Mike takes a break from all the updates to put things in perspective. This work is critical. 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 51 of #Syngap10 - March 14, 2022 #s10e51 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Post RDD - - Last day of Feb, b/c rarest day - What did we do? - Raised $25k! - Newsletter went out! Read and subscribe please https://twitter.com/cureSYNGAP1/status/1498256918371917824 - Jess and Ray represented the Global Team at PWC/Edinburgh https://twitter.com/Cdnchick74/status/1498275297011056644 - Jansen and Kimberly were shared, and that is a win for all of us. - https://variantyx.com/2022/02/25/jansens-story/ - https://www.raredisease.org.uk/rduk-news/our-syngap1-story/ - Announced #CouldItBeSyngap1 300+ already https://www.syngapresearchfund.org/post/syngap-research-fund-deploys-coulditbesyngap1-screening-tool-in-partnership-with-probably-genetic - Webinar madness! - Two down - https://www.syngapresearchfund.org/webinars/the-use-of-milk-exosomes-to-increase-the-expression-of-syngap1-expression-in-syngap1-mice - https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program -> https://syngap1.rare-x.org - Two to go - Saturday: https://www.syngapresearchfund.org/webinars/estrategias-para-quitar-el-panal - Thursday March 10th! https://www.syngapresearchfund.org/webinars/syngap1-service-dogs -> syngap.fund/julian -> https://secure.givelively.org/donate/syngap-research-fund-incorporated/service-dog-for-julian - SEVEN (7) New families this week - Six welcomed today in post https://www.facebook.com/groups/376862123195518/posts/939459816935743 - One not on FB, but reached out after finding us… via this podcast! Yeah. That’s right, there is a work outside of Facebook, we are on Twitter and LinkedIn and Tiktok and Youtube too! - Follow us everywhere with @cureSYNGAP1 - We are doing a #followfriday on Twitter, so get on that, and meet some families and share your story… you never know where those go. https://twitter.com/cureSYNGAP1/status/1499751768435175429?s=20&t=CcoXMTECIG6MZVzRo-IXqg - And it’s good for studies. I could only talk about people who were in the public domain here: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - Happy Birthday Kyle! syngap.fund/kyle Follow this channel: https://www.youtube.com/c/KelliKyle Thank you to SAB and CAB - We have stellar advisors, check them out: https://www.syngapresearchfund.org/home/our-team/sab and https://www.syngapresearchfund.org/home/our-team/team-clinical-advisory-board - They are working hard looking at some of the seven grant proposal we received! It’s going to be a great investment in the future of our loved ones… Sprint4Syngap! - 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ What else? - ORCA, thank you Kali, we have one person left and then we are locked and loaded for the next phase of that important project. - Great meeting with Overcome and partnering on Canadian grants. - One family, older, needed a neuro and we got them hooked up in a day. Love it. - One more survey, if you can for our friends at CNF: https://syngap.fund/cnf22 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 50 of #Syngap10 - March 5, 2022 #s10e50 #sprint4syngap #CouldItBeSYNGAP1 #probablyGenetic #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

COOL START TO THE DAY https://twitter.com/cureSYNGAP1/status/1496855893324926977?s=20&t=S7QHkcWewhu0hi-I_XlQBA Grief in convo with Kali about Rare Disease Diagnosis. NEWS We dropped the Zempleni Presser! How cool is this? Cool enough for the Exosome Industry News to write about it https://twitter.com/ExosomeRNA/status/1496907785535049729 Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni More is coming soon. We have a few press releases in the hopper! One just made possible by a $70k donation from Unlock Defi https://www.unlockdefi.com/ thank you so much. Learn more about that via this interview we did in November https://www.youtube.com/watch?v=A840uoG1Wj0 PRESENTATIONS Jess is presenting on SRF to the UK Community this weekend at Edinburgh, congratulations! Marta gave a presentation at one of our Pharma partners all-staff for Rare Disease Day. Thank you to her and congratulations. It is powerful to talk about our disease. The Data Sharing Panel was exceptional, if you missed it, watch the recording here: https://syngap.fund/data Get your EEG Tracings! In EDF format. Just ask them at the lab, remember you have a right to your data in all Geographies. AMAZING ASKS Profs at Oxford and McGill have reached out with exciting opportunities. Rarebase is getting noisy. I’m told to expect a proposal from WCM and we have one from Finland. We need more funding… start talking to families now. We are asking Leon and Overcome to co-fund with us too. FUNDRAISING Suzanne in GA on Sparks of Hope Julie in NC on Scramble Nancy in NJ on Gala YOU where you are on Sprint eg. Tavilla 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ 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 49 of #Syngap10 - February 25, 2022 #datasharing #biorasi #EEG #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

The Data Sharing Panel next week will be epic, don’t miss: https://syngap.fund/data Tweet: https://twitter.com/curesyngap1/status/1493282864263090181 Use you ICD Codes! F78.A1 if you want background: https://syngap.fund/icd10 - https://syngap.fund/icd11 - https://syngap.fund/F78A1 SRF Case Study here: https://ICDCodeRoadmap.org Get your EEG Tracings! In EDF format. Make sure you connect with us to be connected with the community, either on our reg page or on Facebook: https://syngap.fund/fb goes to https://www.facebook.com/groups/syngap https://www.syngapresearchfund.org/families/connect-with-us Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ 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 48 of #Syngap10 - February 18, 2022 #datasharing #biorasi #EEG #ICD10 #F78A1 #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

The ABN webinar was solid, watch it here: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Remember the Poduri grant, here is the press release if you don’t: https://www.biospace.com/article/releases/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-children-s-hospital/ Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ Reminders: - Great webinar coming up: the use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni - 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 47 of #Syngap10 - February 14, 2022 #trialdesign #braindonation #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs. HEADLINE: YOU CAN”T DO THIS ALONE, DON’T TRY -Please don’t try to muscle raising a SYNGAP1 child, connect with the community, share tricks, joys and sorrows. We cannot do this alone. PLANNING One parent just asked how to think about planning for the future, here is what I said. Part of the answer is a simple SNT (special needs trust) and Life Insurance payable to the trust, this is more affordable than you think. The desire not to burden your other kids is natural, but not always helpful. I'd leave that up to them, in most of the families that I have had the privilege of getting to know... at least one sibling WANTS to step up, and plans their life accordingly. Look at Nancy, just watch https://syngap.fund/caren Regardless of money, all of our kids will need state services throughout their life if we don't get a therapy into their brains (this is what SRF works on). And even then they will need support, but less. At this point, I would ask yourself two things: - 3a. Are you going to live in this place for good? If so, get all over services in your state. The rules and realities vary considerably by state. - 3b. If you are flexible, is there another place you could live and what are services like there? I've seen a few families take a deep breath, ask these questions and move. Our kids don't get less complicated, I think you have signed up for Ciitizen, but whoever cares for your loved one will be so grateful that you have put all his medical records in one place. https://ciitizen.com/Syngap1 Get to know this community, we have a STRONG SRF Crew having other families close is huge. Not to mention they know the rules in your state (see #3a). WEBINARS -An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN -The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni SERVICE DOGS SRF works with Meridus K9, if you are interested, please reach out to Cecilia! https://www.meridusk9.com/ FUNDRAISING IS ALWAYS IMPORTANT - https://syngap.fund/hopeforhadley $12.5k - https://Syngap.fund/joinforjackson $800 - https://Syngap.fund/raylan 2nd Annual #Sprint4Syngap is coming April 30, 2022. - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ THIS IS A PODCAST - SUBSCRIBE! - Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 46 of #Syngap10 - February 7, 2022 #servicedogs #braindonation #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen. IT ALL TAKES MONEY - Emily’s Fundraiser #HopeForHadley https://secure.givelively.org/donate/syngap-research-fund-incorporated/hope-for-hadley - 2nd Annual Sprint for Syngap is coming April 30, 2022. WEBINARS - La intención comunicativa en SYNGAP1 el sábado 5 de febrero | 9am Miami / 3pm Madrid https://syngap.fund/intencion - An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN - The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni BLOGS - Diapers: https://www.syngapresearchfund.org/post/diapers-pull-ups-for-older-kids-a-moms-experience - Missense: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 - https://www.genome.gov/sites/default/files/tg/en/illustration/missense_mutation.jpg MUTATION STORIES - c.3583-6G>A Europe and East Coast, connected! - c.333del and c.490 C>T Facebook Groups - Data https://docs.google.com/spreadsheets/d/13dAPdXJnF-ST4lJnKrgxEJ_03e7shyXg7jwiqeXSR7c/edit?usp=sharing CIITIZEN - Privacy https://ciitizen.com/privacy - Sign up https://ciitizen.com/SYNGAP1 - Nobody does it better. EXTRA CREDIT - Gene Fixers was VERY GOOD. Here is the replay. This is worth a listen. www.clubhouse.com/room/m26dGYr4?utm_medium=ch_room_xerc&utm_campaign=RgMbPQTckJlMoxenxVxCiQ-38225 REMEMBER - Raise funds at https://syngap.fund/give - Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 45 of #Syngap10 - January 28, 2022 #braindonation #specialneedsdiapers #missense #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Read Paediatric Neurologist, Clinician-Scientist, Laureate Professor Ingrid Scheffer, AO’s piece in the Lancet Neurology: https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(22)00002-3/fulltext Here is the quote Mike read: “It will not be feasible to design a gene therapy for each pathogenic variant of every genetic disease, so clever strategies, such as those mentioned earlier, will need to be developed to enable these life-changing therapies to reach a wide variety of patients. The future of child neurology is bright—indeed, far more promising than at the turn of the 21st century. Many devastating diseases now have real hope of targeted therapies, which can cure not just one but all manifestations of the disease and offer the child and family the promise of a normal life.” SRF article on IPSCs: https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments SRF article on reading your genetic report: https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease SRF article on VUS: https://www.syngapresearchfund.org/post/does-your-genetic-report-contain-a-variant-of-unknown-significance-vus-in-syngap1 REMEMBER Raise funds at https://syngap.fund/give Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 44 of #Syngap10 - January 21, 2022 #missense #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1 BIG NEWS! https://www.businesswire.com/news/home/20220110005334/en/ FIVE KEY LINKS - Dr. Kaye’s presentation - Listen to it again and again https://investor.stoketherapeutics.com/events/event-details/40th-annual-jp-morgan-healthcare-conference - AES 2018 Poster https://www.stoketherapeutics.com/wp-content/uploads/Stoke-Poster-Dec-1.pdf - STOKE Patent https://patents.google.com/patent/WO2017106377A1/en - #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner - Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1 SPREAD THE WORD Twitter.com/cureSYNGAP1/status/1480546972645793794?s=20 Linkedin.com/feed/update/urn:li:activity:6886314132866506753 Facebook.com/cureSYNGAP1/posts/946801809535615 WHO IS WHO AT STOKE https://www.cshl.edu/research/faculty-staff/adrian-r-krainer/ PhD Harvard 1986 https://www.linkedin.com/in/huwnash/ PhD Harvard 1997, EIR ATP since 2014 https://www.oligotherapeutics.org/officers/isabel-aznarez-ph-d/ PhD Toronto 2006 https://www.linkedin.com/in/barryticho/ MD PhD Chicago https://www.linkedin.com/in/edward-kaye-0a46a710/ MD Loyola Chicago COMPANIES Stoke https://www.stoketherapeutics.com/ $ACAD Acadia https://www.acadia-pharm.com/ $STOK OTHER GREAT LINKS DSF on the Monarch https://www.dravetfoundation.org/wp-content/uploads/2020/04/Stoke-Community-FAQ-April-2020.pdf It starts with Spinraza https://www.ninds.nih.gov/About-NINDS/Impact/NINDS-Contributions-Approved-Therapies/Nusinersen-Spinraza%C2%AE-%E2%80%93-Spinal-Muscular aka https://en.wikipedia.org/wiki/Nusinersen Grant made in 2003, Phase 1 in 2011 (dec) FDA approval in 2016 (Dec) https://www.curesma.org/fda-approves-spinraza-for-sma/ From: https://www.bizjournals.com/boston/news/2018/01/04/ex-sarepta-ceo-takes-helm-of-genetic-disease.html Kaye said he was recruited by Stoke co-founder Adrian Krainer, with whom he previously worked at Genzyme before joining Sarepta in 2010. Krainer is perhaps best known for being an inventor of another “antisense” drug targeting a genetic disease, Biogen’s spinal muscular atrophy treatment Spinraza. “He was one of the real originators of RNA therapy,” Kaye said. “I thought (Stoke) was at a point where it needed to be shepherded from preclinical development into the clinic. It was a really exciting opportunity.” Stoke Origins: https://endpts.com/gene-therapy-startup-stoke-therapeutics-secures-another-90m-in-series-b-funding/ $40M from ATP in 2018. https://www.appletreepartners.com/portfolio#stoke-therapeutics IPO June 2019 $163M/ https://www.spglobal.com/marketintelligence/en/news-insights/trending/OTV6RnpzTCGYyRs_gx1m7A2 REMEMBER Raise funds at https://syngap.fund/give Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 43 of #Syngap10 - January 14, 2022 #StokedAboutStoke #ASO #SYNGAP1 #AcadiaPharma #StokeTx #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

How to tell your family about SYNGAP1 As you process your loved ones’ recent SYNGAP diagnosis, when do you tell your family? How? When? As soon as you can! How, well that’s what we talk about today: This is a big deal, let’s not minimize it. I need your help Learn with me Fight insurance with me Help me rearrange my life Help with my SYNGAPian or their siblings Jump into my life, don’t give me space Raise funds with me to help bring therapies and cure closer to reality - Raise funds at https://syngap.fund/give - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 42 of #Syngap10 - January 7, 2022 #family #thetalk #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

2021 by the numbers, 985 patients counted, exciting work ahead! - Mike quantifies the work of SRF in some statistics, it’s been three years: https://syngap.fund/2021numbers - The #SyngapCensus is at 985! https://syngap.fund/census - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are at 154 in the US! - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 41 of #Syngap10 - December 31, 2021 #phenylbutyrate #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Episode 40 of #Syngap10 - December 17, 2021 - Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466 - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150! - Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL - ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure - Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha - Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! https://www.milliondollarbikeride.org/ - Emmitt got a #VNS https://twitter.com/SydneyStel/status/1470766587795972096 - phenylbutyrate -https://www.statnews.com/2021/06/03/parents-hoped-an-existing-drug-might-keep-their-kids-from-having-seizures-then-they-saw-the-price/ -https://www.biorxiv.org/content/10.1101/2021.12.08.471799v1.full.pdf -https://www.clinicaltrials.gov/ct2/show/NCT04937062?cond=slc6a1&draw=2&rank=1 -Start at 40:40 https://vimeo.com/610301620 - Raise some money! https://srf.salsalabs.org/srfdidyouknow - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a #phenylbutyrate #MDBR #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Episode 39 of #Syngap10 - December 10, 2021 - Isoform paper https://www.biorxiv.org/content/10.1101/2021.12.05.471306v1 - Treatment one year sooner https://www.syngapresearchfund.org/post/oneyearsooner - Syngap merch https://www.syngapresearchfund.org/shop - SRF’s Blog https://www.syngapresearchfund.org/blog - Fundraise https://syngap.fund/give - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #TalentTuesday #volunteer #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us. Episode 38 of #Syngap10 - December 4th, 2021 Roundtable 3 #SRFRT3 was a great success, special thanks to all speakers. The #FAST #Angleman meeting is incredible. https://cureangelman.org/events/gala2021 Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 Raise funds for SYNGAP1 - Facebook Fundraisers: http://syngap.fund/FBFun - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #FAST #Angelman #SRFRT3 #SyngapaseRT #Syngap1 #syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional - Getting diagnosed with Syngap1 as an adult - It’s a fact; nonprofits have overhead - SRF founders cover all overhead! www.syngapresearchfund.org/post/7-reasons-smartdonors-fight-syngap1-via-srf - SRF is all about transparency syngap.fund/finance - SRF has 600K out in grants in 2021 syngap.fund/grants - End of Year Giving - Shop and donate at Amazon Smile bit.ly/SRF_Smile - GivingTuesday Nov 30 syngap.fund/gt21 - End of year giving letter created for families to share syngap.fund/eoy Episode 37 - November 26th, 2021 https://www.syngapresearchfund.org/syngap10-podcast #overhead #ciitizen #givingtuesday #adultswithdisabilities #leadership #GlobalGenes #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Top 5: 10 to go! https://syngap.fund/NHS or https://www.ciitizen.com/syngap1/ https://syngap.fund/gt21 https://syngap.fund/rt3 Studies: ORCA - Full FRAZIER - email [email protected] SIGN UP ALL ONLINE https://syngap.fund/adults and email [email protected] Old Guard: Aaron, Olga, Rebecca, Virginie, Hans https://www.syngapresearchfund.org/post/meet-the-globalvillage-of-syngapleaders by Jo! Marta, Vicky, Peter, Kali, Summer Pavel, Nancy, Sydney Tavillas Lauren Perry New wave of leaders: Alexis https://syngap.fund/naya Corey Baysden Jen & Dan Robert Suzanne Jones Caitlin Kasper Ashley Frye GET YOUR CARDS! Minted.com FUNDRAISESYNGAP Episode 36 - November 19th, 2021 https://www.syngapresearchfund.org/syngap10-podcast #grateful #studies #ciitizen #givingtuesday #SynapseRT #adultswithdisabilities #leadership #careaboutrare #GlobalGenes #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Episode 35 of #Syngap10 - November 12th, 2021 HOLIDAY GIFTS - GET SRF #MERCH 5 days left to order Hoodies, T-shirts, other gear: - https://syngap.fund/LHC or https://syngap.fund/BKC - Get your holiday cards at Minted.com and use code FUNDRAISESYNGAP FOUR STUDIES are enrolling now/soon: - Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc - Dr. Frazier - Reach out to [email protected] to participate. Here is the webinar. https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - ORCA - Once we get the greenlight from FDA we will start recruiting. Here is a link with more info: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - We have less than 20 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1 CRYPTO - Jack Shi interview on https://twitter.com/cureSYNGAP1/status/1459165110862168066?s=20 https://www.linkedin.com/feed/update/urn:li:activity:6864944054384279552 https://www.facebook.com/cureSYNGAP1/posts/910882546460875 - Donate Crypto to SRF https://syngap.fund/block HELP US RAISE FUNDS FOR SYNGAP - Facebook Fundraisers: http://syngap.fund/FBFun - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #NFTs #crypto #unlockdefi #Bonfire #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Episode 34 of #Syngap10 - November 5th, 2021 - 3rd Annual Synapse Roundtable will be Dec 3, 2021, sign up at https://syngap.fund/rt3 - We have 22 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1 -Three more studies are enrolling now/soon: -Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc - Dr. Frazier - Reach out to [email protected] to participate. Here is the webinar. https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - ORCA - Once we get the greenlight from FDA we will start recruiting. Here is a link with more info: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - Great newsletter, make sure to read it: https://syngap.fund/Nov - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - ICD-10 Code: https://syngap.fund/F78A1 ICD11 Effort: https://syngap.fund/ICD11 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 - Happy GC Awareness Day! #SynapseRT #F78A1 #ICD10 #ICD11 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Episode 33 of #Syngap10 - October 29th, 2021 -Caren Leib Gala was an epic success - #SRFGala - syngap.fund/gala -Partnering with Dr. Danielle Andrade in Toronto who is including SYNGAP1 in gene study and is looking for at least 30 families with adult Syngapians. It’s a huge opportunity. https://www.uhnresearch.ca/researcher/danielle-andrade - Be hopeful- there is a lot of progress happening below the surface and we have more coming! syngap.fund/grants - Support SRF - syngap.fund/give - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #ICD10 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #SRFGala

Happenings Tomorrow is the GALA https://syngap.fund/gala In two Thursdays! Investigating the functional single cell biology of SYNGAP1 pathways Thursday, November 4th Register: http://Syngap.Fund/mc NOW (Crypto Art Auction) https://syngap.fund/sungap ICDs & Medical Care - Corey ICD-10 issue https://syngap.fund/F78A1 - ICD-11 is happening too! Not kidding: https://www.syngapresearchfund.org/post/icd-11-is-coming-soon-and-we-need-your-help - Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors Thank yous - Thank you to Ashley and Forbes for giving SRF some air time! https://www.forbes.com/sites/kevindowd/2021/10/20/after-helping-pfizer-speed-up-its-vaccine-trials-saama-strikes-a-430-million-deal-with-carlyle/ - Thank you to Ira for the opportunity, longer interview today on Potential, Progress, Possibilities, on https://syngap.fund/mike or directly at https://youtu.be/RGnStUPmUkI - Spectrum for featuring two SRF Grantees work. https://www.spectrumnews.org/news/autism-linked-gene-syngap1-molds-synaptic-plasticity-learning/ - Thank you to Jansen’s parents for going big on this fundraiser: https://syngap.fund/Jansen $90k+ Data Deadlines - Sign up for #Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1 - December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3 etc. - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #ICD10 #ICD11 #Syngap1 #SYNGAP #SUNGAP #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics Episode 32.

Episode 31 of #Syngap10 - October 15th, 2021 - We just gave BCH a large grant to work on #SYNGAP1 #ciitizen data, thanks to all our donors, press release: https://www.syngapresearchfund.org/post/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital - Sign up for Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1 - Huge thanks to UFDtech for the #UFDcure Cannonball, $151k! https://www.justgiving.com/fundraising/ufdcure - Consider donating to our fundraiser for RareBase syngap.fund/RB. - Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser, SRF Director Nancy Kessler and co-founder Ashley Evans will be speaking. syngap.fund/gala - December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here syngap.fund/10 #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

- Cannonball’s last day TODAY. Three dads driving across the US. syngap.fund/cb - Family fundraiser: syngap.fund/jansen - Consider donating to our fundraiser for RareBase. syngap.fund/rb - SYNGAP1 Patient Voice Publication. syngap.fund/pvp #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

- Go see the SRF TikTok account: syngap.fund/tiktok. - Find us everywhere at our handle @curesyngap1. - It's October 1! #SYNGAP1 ICD-10 code F78.A1 is live TODAY. Ask all your clinicians to start using it. syngap.fund/F78A1 - Cannonball 5 DAYS . 3 dads driving across the US syngap.fund/cball #UFDcure. - Consider donating to our fundraiser for RareBase syngap.fund/RB. - #SYNGAP Census! There are 883 diagnosed Syngapians worldwide. This is +75 in the last 3 months. Learn more at syngap.fund/census. - Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors. - Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser and co-founder Ashley Evans will be speaking. syngap.fund/gala - October Newsletter: read it here: syngapresearchfund.org/news. - Sign up for this 10 minute #podcast #SYNGAP10 here syngap.fund/10 This was Episode 29 of #Syngap10 - October 1st, 2021 #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

- Correction: Last week, reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won and easier to finish for everyone. - Big thought: Complex Population, about to get more complex, "Post-Intervention" - Sign up for Ciitizen: https://www.ciitizen.com/syngap1/ - Remember that Duke presentation, here it is: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant/ - Next week, lets' get connected Global Genes Conference https://globalgenes.org/event/rare-patient-advocacy-summit/ - Simons Searchlight in Spanish, English is still being scheduled: https://syngap.fund/SimonsSearchlight/ - Interesting paper on #SYNGAP1 and Sleep, the best part is the suggestion at the end to use this for a clinical endpoint! https://twitter.com/cureSYNGAP1/status/1439825860245090306?s=20 - Not Alone Coloring Book! https://syngap.fund/notalone - Cannonball 11 DAYS . 3 dads driving across the US https://syngap.fund/cball #UFDcure - Go to the GALA! 29 DAYS! https://syngap.fund/gala - Easy to do https://syngap.fund/GNP - Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR - Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 - What is #SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 This was Episode 28 of #Syngap10 - September 24th, 2021 #F78A1 #ICD10 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

Rarebase (explained) and also, they helped us find another another family. Here is the press release: https://www.rarebase.org/post/rarebase-launches-a-neuroscience-drug-discovery-platform-collaborating-with-15-rare-disease-patient-organizations #FUNCTION #RareBase Cannonball 18 DAYS did you see this article? https://thealmanac.net/news/upper-st-clair-resident-plans-to-livestream-cross-country-ride-for-charity/article_09570da8-119f-11ec-b1a1-fbe2d9f2526a.html 3 dads driving across :us: and focusing on endurance, can you sponsor? https://www.syngapresearchfund.org/cannonball #UFDcure Billy shoes: 10% off with https://Syngap.Fund/Billy watch our interview at https://youtu.be/mAz1PT_JziE Company conversations: Q-State Pipeline Reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won. Have you bought your tickets to the Gala yet? 35 DAYS! https://www.syngapresearchfund.org/gala San Filippo has a 10 min podcast and we love it. Honestly, it's been a great way to connect and I urge everyone to try it out. This was episode 27 of #Syngap10 - September 17th, 2021 #SYNGAP1 #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAP #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #epilepsy #autism #geneticcounseling #raredisease #Podcast #SYNGAP10

#SYNGAP10 - Episode 26 - September 10th, 2021 - The future is coming, let’s build it! A wonderful letter from a parent “on an island” that reminded us of the https://Syngap.fund/lens with http://joashline.com/ made my week. Digital Lighthouse concept in the 12 Commandments Interview with Effie: https://effieparks.com/podcast/episode-094-mike-and-nasha First principles, we are here to change the future and help each other. The future is coming: Invitae & Ciitizen Read this FAQ https://www.ciitizen.com/announcement/ Sign up for Ciitizen https://ciitizen.com/syngap1 We make the future by raising funds and building community, that is happening twice over with #UFDcure Cannonball & Care Leib Gala. https://syngap.fund/cball -> https://www.syngapresearchfund.org/cannonball 25 Days, https://syngap.fund/gala -> https://www.syngapresearchfund.org/gala 43 days (19 for tix) Two big announcements next week! Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 This was episode 26 of #Syngap10 What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 #F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

-That incredible webinar https://Syngap.fund/ana was a source of hope! -The newsletter came out yesterday; it’s really good: https://syngap.fund/sept -Families in the US, UK, Canada & Australia are reminded to sign up for the largest collection of SYNGAP1 data on earth for free: https://ciitizen.com/syngap1 -Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR -Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 -What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 This was episode 25 of #Syngap10 - September 3rd, 2021 #F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

#SYNGAP10 - Ep. 24 - August 27th, 2021 - Two conversations with the same conclusion... Next Webinar: https://Syngap.fund/ana Sept 2 at 10 am. PST Two conversations with the same conclusion, sign up for Ciitizen https://ciitizen.com/syngap1 Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

Episode 23 of #Syngap10 - August 10th, 2021 Eduardo webinar was amazing, it's on FB Live and we will have the YouTube up soon. Remember to register for Ana in September https://Syngap.Fund/Ana SYNGAP1 is on the Compassionate Access List (CAL) for the SSA. This just happened and it's due to the work of one of our families, thank you! https://Syngap.Fund/SSA Great scientist conversations this week. New researcher looking into SYNGAP1, connecting with local families Rockstars reviewing a multi-gene grant One senior scientist called to say he's got Fish and we should let people know. Stories I will tell to help bring home how not simple this life is. Jadyne https://www.facebook.com/whatweneedyesterday Kyle https://www.youtube.com/channel/UCCbBNmkHLwba--nQ8LX0WCQ Carter https://www.youtube.com/watch?v=f6DsFUz-6HM Emmitt https://www.youtube.com/watch?v=tOampbK0uy0 Amelia https://www.youtube.com/watch?v=gvwJqF_kuBI What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

Episode 22 of #Syngap10 - August 13th, 2021 - Webinars -https://Syngap.fund/eduardo August 19 at 10 am PST -https://Syngap.fund/ana Sept 2 at 10 am PST - Mugs mugs mugs -https://twitter.com/AAledo/status/1426207246149636099 - Blog: Genetics article is a must read for new families - https://www.syngapresearchfund.org/post/what-should-i-ask-in-my-genetics-appointment-for-syngap1 - Genetic Counselors - Tell me about your experience - What do they need to know? - Hug them - Ciitizen - Count 110 + 12, let's keep going, 28 spots left! - Panel https://www.facebook.com/cureSYNGAP1/videos/221755526409431/ - Sign up https://ciitizen.com/syngap1 - Cure - Rarebase article https://www.rarebase.org/post/what-does-it-mean-to-find-a-cure-for-a-disease - See episode 19. Yes, we need to reach for this - We may not know what is coming, but we need to work for it - One Upon a Gene - 94 https://effieparks.com/podcast/episode-094-mike-and-nasha - 41 https://effieparks.com/podcast/episode-41-syngap-research-fund - Cures go through clinical trials. Get ready: https://syngap.fund/ctr - $36k!

#SYNGAP10 - Episode 21 - August 2, 2021 - Connection is everything! -Thank you for all the connections this week! -San Diego with the Harding Family -https://www.facebook.com/groups/SyngapResearchFund/posts/810210336527359 -New Jersey with Nancy Lieb Kessler -https://www.thesandpaper.net/articles/genetic-testing-solves-a-familys-medical-mystery/ -Ashley in Boston -https://twitter.com/SYNGAP1mom/status/1420457356836495360 -Juan and Vicky did a wonderful video! -https://www.youtube.com/watch?v=T_W_3IuJCrI -https://fb.watch/78guUyW3pp/ -Support our current effort at https://syngap.fund/CTR -Subscribe to this podcast at https://syngap.fund/10

#SYNGAP10 - Episode 20 - July 23, 2021 - Great things afoot! Join us. Thank you to you know who you are, & welcome to three new families this week! https://syngap.fund/CTR is happening, worked on data this week https://ciitizen.com/SYNGAP1 sign up, we are filling cohort 3! Next grant on drug discovery is already in the works A few announcements Wed July 28 - San Diego, see you next week Sunday August 1 - Gathering in Jersey Tuesday August 24 - UC Davis meet the researchers Interested in getting a service dog? https://www.meridusk9.com Make sure you track us on social: @cureSYNGAP1 on all platforms Look for a cool podcast on August 5th with Mike & Nasha, be sure to follow OUAG: https://effieparks.com/podcast

-Working with Duke on the ORCA, let us know about your SYNGAPian here https://syngap.fund/comms -Ciitizen, we are in the 3rd cohort, sign up quick: https://ciitizen.com/SYNGAP1 -Still fundraising for https://syngap.fund/ctr -All social media is now on @cureSYNGAP1 -https://Facebook.com/cureSYNGAP1 -https://Twitter.com/cureSYNGAP1 -https://Linkedin.com/company/curesyngap1 -https://Instagram.com/curesyngap1 -https://Tiktok.com/@curesyngap1 -https://YouTube.com/c/@cureSYNGAP1 -Yep, we said it, and we mean it. -Subscribe to this podcast at https://syngap.fund/10

#SYNGAP10 - Ep. 18 - "Seizures, Communication, Behavior, Sleep, Other" Is that right? https://Syngap.Fund/CTR - $26k and growing. Birthday Fundraisers, $25 per $250, we will find and thank you! https://Syngap.Fund/blog - Make sure to read the latest on variants Events: Webinar & Meetups https://syngap.fund/webinar - Next week, Saturday, July 17th @ 9 Pacific. San Diego Family Meetup - SRF Syngap Meet-Up, July 28th @ 3 pm, Details in SRF NA Group. Beach Haven, NJ Meetup - August 1st 11-5, details in the SRF NY Group. Caren will come! https://Syngap.Fund/caren t-shirts. 121 Warriors - https://syngap.fund/warrior - Egypt, Texas, Quebec & Argentina. Great work. We are working on a poster for a meeting, stay tuned, we are learning it’s not easy to explain this life… a couple of stories Order of Symptoms 8 weeks from Seizure to Dx in Ireland, wow, 3.5. Great work Temple St, Dublin. Meds overload. Always check levels and loop with doctors…

#SYNGAP10 - Episode 17 - 2 July 2021 - Thanks for listening, now please share! - Newsletter: https://Syngap.Fund/July - Census: https://Syngap.Fund/Census Honestly, it’s low. Remember Covid. - Frazier: 7/17 9 AM https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - Palma: 8/19 10 AM https://www.syngapresearchfund.org/webinars/interpretation-of-syngap1-variants-srf - Just talking yesterday to someone who redid testing: Genetic Testing needs to be updated every few years. - July 1 paper: “We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID.” https://www.nature.com/articles/s41436-021-01242-6 - Time for some fundraising: https://Syngap.Fund/CTR Deal done, Board reviewed. Post-docs staffed. Let’s make it happen… everyone can help. - Remember, SRF is the best deal ever: https://syngap.fund/smartdonors - Subscribe at https://syngap.fund/10

#SYNGAP10 - Episode 16 - 25 June 2021 REMINDER - Put your own mask on first. THANKS - #syngapLOVE photos were great, check out our header image THANKS - DISORDER Channel - Thank you for Dad’s mention. https://www.facebook.com/rarediseasefilmfestival/videos/924558798278718 GIVE - https://Syngap.Fund/CTR - We need to raise some money folks! WORK - Fundraisers are getting real, need to organize some events, email [email protected] PROGRESS - Ciitizens got gift cards! Yeah, sign up now. Ciitizen.com/SYNGAP1 STORY - ICD-10 Story of two codes: F78.A1 is our one and only code. https://syngap.fund/icd10

#SPLASH4SYNGAP is on MONDAY. 3 days until June 21st! Take photos with the flyer https://syngap.fund/love = https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Use hashtag #SYNGAPlove & #Splash4SYNGAP DSC & BCH - It’s go time! Let’s raise some funds. Read the blogs Syngap.fund/biomarker = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development Syngap.fund/BCH = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development ICD-10 EveryLife case study! https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13 Dravet Business Cards. Copying is great! Copy us. ONE YEAR SOONER: Reminder why all this matters https://www.syngapresearchfund.org/post/oneyearsooner ORCA: Via CB we are in. Stay tuned here. SYNGAP1 is one of the validation teams Rett Press Release https://www.prweb.com/releases/rett_syndrome_research_trust_announces_development_o[…]on_ability_of_individuals_with_rett_syndrome/prweb18012275.htm DUKE FDA GRANT https://populationhealth.duke.edu/news/orca-measure-expands-more-neurodevelopmental-diseases GRANDPARENTS group is going strong Tell your parents about https://syngap.fund/grand = https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 Also had the c.333del (6!) and regular wednesday bit.ly/SRFHH at 5 PM Pacific.

- We are seeing some great photos! https://Syngap.fund/Love which is https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap #SyngapLove COMMUNITY - I don’t want the questions. It’s hard to go out in public, our kids are so damn cute. - Connecting on a gene/geno pheno. https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease BLOGS - Check out life expectancy blog. https://www.syngapresearchfund.org/post/whats-the-life-expectancy-of-someone-with-syngap1 - SRF Equine Therapy Articles, http://syngap.fund/horse which is https://www.syngapresearchfund.org/post/hippotherapy-equine-therapy-syngap1 UPENN - Thx Dr. Heller for your impressive progress report! - Speaking of UPenn! #MDBR21SRF tomorrow! Thanks Aaron Harding and support the team at Syngap.Fund/GIVE - Coba Press Release https://syngap.fund/coba2 - #Rarecast with Nasha Fitter of Ciitizen. https://syngap.fund/RCNF - Sign up for Ciitizen: Ciitizen.com/SYNGAP1

SYNGAP10 - Ep. 6 - 16 April 2021 SRF Newsletter yesterday, make sure you sign up! SSB is off and running. Webinars, another tomorrow in Spanish Sprint next Saturday - April 24th Celebrating Caren is now live and about to go on the circuit thanks Nancy, Daniel & illumina SSB - Seizure sleep and behavior Do the surveys! Links are in the newsletter and here: syngap.fund/ssb-Behavior syngap.fund/ssb-sleep syngap.fund/ST STXBP1 has joined ciitizen - Now they are joining SYNGAP1, FOXG1 Tess Research (slc13a5), Rett SCN2A via Praxis, SCN8A & BPAN Tom Frazier (Autism Speaks, CSO) has completed Phase 1 of NET, now working on the tool. He was just on the Today Show 2 weeks ago. - Here we are partnering with Malan, PTEN & ADNP. Sprint4Syngap is going strong: $69k+! Way to go #TeamMyla! FondoSyngap.org is live, great work Vicky & Marta! We asked for an ICD10 code over a year ago - CDKL5, Dravet, Angleman's all have one, what's going on? You’re not alone, reach out: [email protected]

Birthday Fundraiser was a great success! https://syngap.fund/m46 Make sure to watch this video from Brett - https://youtu.be/pp9_hTvr2eM ILOVE SOMEONE WITH SYNGAP1 https://syngap.fund/love aka https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Learn more at SyngapResearchFund.org

SynGAP10 - Ep. 12 - 28 May 2021 - IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB! Subscribe to the podcast! https://syngap.fund/10 = https://www.syngapresearchfund.org/syngap10-podcast We are making IPSCs! https://syngap.fund/ipsc = https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Join the largest SYNGAP1 study on earth https://syngap.fund/nhs Learn more at https://syngap.fund/rarex Watch our Webinars! https://syngap.fund/webinar = https://www.syngapresearchfund.org/families/resources/webinars - https://syngap.fund/aten Thurs June 10th @ 10 PST - https://syngap.fund/drtf Sat July 17th @ 9 PST - Learn more at https://syngap.fund/FrazierPR - and https://syngap.fund/Frazier My birthday fundraiser, please give, I will match every dollar: https://syngap.fund/m46

SYNGAP10 - Episode 11 - May 21st, 2021 - We must be hopeful - and it makes sense to be so. Understand where science is today with Erik, https://podcasts.apple.com/us/podcast/rarecast/id954082143?i=1000519319382 Kyle’s tweet: Fundraising raises awareness. https://twitter.com/kyleabryant/status/1394413673016446981 Effie’s Once Upon a Gene episode: It’s Ok that your not OK https://effieparks.com/podcast/episode-080-megan-devine My birthday fundraiser: https://www.facebook.com/donate/465934367824427/4350219688321412/ List of things you can do for SRF: https://Syngap.fund/clicks Remember especially to tell us about the doctors you have seen via https://Syngap.Fund/docs https://SyngapResearchFund.org

SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC Validated Scales Congrats to the ORCA Team at Duke https://syngap.fund/orca Join Dr. Frazier to learn more about the NET www.syngapresearchfund.org/families/resources/webinars Grand parents article https://syngap.fund/grand Thank you Barbara for this article https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 Join the Group there is a link in the article - Peer connection is so key Ciitizen US sign ups continue! Every patient matters/. https://www.ciitizen.com/syngap1/ International is open! Same link, but you must collect and upload. Ashley Evans, the co-founder of SRF, gave an interview with Kayo - https://Syngap.fund/Kayo IPSCs - We are in the home stretch of accelerating treatments via making iPSCs available

In this episode, Mike reflected on a conversations with and questions from SYNGAP parents who have responded to previous episodes of SYNGAP10. As usual, it was packed. Thanks to DISORDER for listing SYNGAP10 as one of the best Rare Disease podcasts. We are honored. https://www.rarediseasefilmfestival.com/rarediseasepodcasts Reflections on conversation with parents, especially the parents of Adult SynGAPians. We had a great webinar this week with Lori Unumb about ABA, Autism and Advocacy, you can view it on our webinars page https://www.syngapresearchfund.org/families/resources/webinars Next week we will have a great webinar with Prof. Haas of UBC about missense mutations. Don't miss it. https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas Ciitizen continues to grow, sign up at https://Ciitizen.com/SYNGAP1 Mike answered a great question about cost and access. Explaining why we are hopeful that payers will support our therapies.