CURE SYNGAP1 PODCAST aka SYNGAP10

#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.

SYNGAP10 - Episode 8 - BREAKING NEWS This episode is an absolute must. Don't miss it. - Reminder that #SSB30 is happening now, the first pharma sponsored study on #ciitizen. If you are enrolled in Ciitizen, start doing your seizure tracker today: 🔗 https://Syngap.Fund/ST - If you have not yet signed up for Ciitizen, there is still time, it's free: https://www.ciitizen.com/syngap1/ - 🚨 Breaking: We have reason to believe that we will get an ICD-10 code in June, effective 10/1/21. This is a big deal. Background link: https://www.syngapresearchfund.org/post/syngap-could-have-an-icd-10-code-f78-a1-as-soon-as-next-year Referenced link from podcast: https://www.cms.gov/medicare/acute-inpatient-pps/fy-2022-ipps-proposed-rule-home-page - #Sprint4Syngap raised $122,500+. Huge thanks to everyone. Two great videos of the community building that took place are: Colombia 🇨🇴 https://youtu.be/4jYGJJnbLf8 Boston https://youtu.be/edlfSW1kvKE - Welcome to 4 new families just diagnosed in the past week. 🤯 - If you want to support SRF, call us, there is some much good work to do! This is a podcast, sign up via your favorite service or watch previous episodes at: https://www.syngapresearchfund.org/syngap10-podcast

#Syngap10 - Episode 7 - 23 April 2021 Syngap.Fund/Sprint We have raised $104k, so far! Look for the #sprint4syngap tomorrow! Thanks to Henry Anderson of the Pats for a shoutout! The fund will go to an upcoming grant at BCH EEG Biomarker work Analysis of Ciitizen data into a study Ciitizen either sign up ciitizen.com/SYNGAP1 or join the survey syngap.fund/ST We had meetings with CB, PMC, ELCC & REN this week. Help SRF by going to syngap.fund/clicks and tell us about your syngap.fund/docs Reach out to us if you want to Volunteer at SyngapResearchFund.org

SYNGAP10, episode 5, 9 April 2021 Biomarker EEG work - very exciting IPSCs - Prime editing, Base editing, tRNA etc. Based on Ciitizen data! SSB30 Webinar! Check it out on April 15th. https://syngap.fund/ssb Seizure, Sleep & Behavior Ciitizen 103 signed up, 8 are VUS, 95 spots used, 5 TO GO. Sign up now: Ciitizen.com/SYNGAP1 CNF Caregiver survey, due April 23rd. https://syngap.fund/cnf Kids don't get Dx'd, families do. Grandparent article who wants to talk to Barbara? https://syngap.fund/grand Sprint! Bakers dozen 13 groups over $1k! 62K+ https://syngap.fund/sprint Reminders: Enzo 8, Brazil, was our Warrior this week. http://syngap.fund/warriors Also two webinars coming up http://syngap.fund/webinar GI on 4/22 and Advocacy on 5/6.

SYNGAP10, episode 4, 2 April 2021 starts with incredible news about a forthcoming study. Ciitizen survey pre-trial is signed! Coming soon, look for an email. If you have not joined, ciitizen.com/SYNGAP1 #SyngapCensus = 762 Caren movie is up - great work on subtitles This week alone - 2 companies, 2 labs, 1 wed warrior Kyle from ohio, 15 - One amazing Webinar #Sprint4Syngap - We are doing well. Newsletter - Board announcement. Need some volunteers to write the newsletter!

Webinars: Jo, SRFCC1 and so many others are up our beautitful YouTube channel Syngap.Fund/YouTube for the old ones Syngap.Fund/Webinar for the new ones. Warriors: Do you read them? Is your SynGAPian amoung them? SynGAP.Fund/Warriors Work: Do you have time to help? Know a filmaker. Caren subtitles: we are working on them. Sprint4Syngap: we're uping the goal to $100k, we can do this.

Check out the Eat. Sleep. Cure. Mug, love it! #Sprint4Syngap is going well, thanks to leading families and teams. Lots of webinars coming soon, don't miss next week with Jo syngap.fund/teendx Sign up for Ciitizen.com/SYNGAP1 Cell lines and biobanks. E4 sensors to researchers! CNF profiles our support group. Getting the next board together. Praxis earnings call Wahoodatt Fishing is awesome, check them out! https://wahoodatfishing.com/ SRF joins the American Brain Coalition. All in 10 minutes!

Mike's first episode! A quick update on the week in SYNGAP1, what the SynGAP Research Fund did this week on behalf of families. - Engaged with a new BioPharma company interested in starting a program on SYNGAP1. - Connected ANOTHER company with CIITIZEN.com/SYNGAP1 so that they can use the data we have to do a trial as quickly as possible. - How to sign up for CIITIZEN.com/SYNGAP1 - How #Sprint4Syngap is going - A preview of some work we are doing on drug discovery with Worms and Fish - A preview of work we are planning on EEG Biomarkers - Why biomarkers matter Learn more at www.SyngapResearchFund.org