CURE SYNGAP1 PODCAST aka SYNGAP10

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