SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)SRF is the same:- Raise Funds to Change the Future- Volunteer, contribute to a larger effort-

Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138

20 days ago 24m 35s

TOGETHER WE ARE STRONGER- 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/- Stoke webinar: one of the most important considerations for deciding which disease to work on

Stoke Praxis Longboard, CHOP & Adult Studies, Hope4theCure, Sprint4Syngap, & Social Matters #S10e137

29 days ago 25m 23s

Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/) Stoke Therapeutics #StokedAboutStokePresser: https://investor.stoketherapeutics.com/news-rele

SYNGAP1 Ciitizen Paper is out! UCB Survey. UCSF is discovering SYNGAP. #Sprint4SYNGAP 2024 is on! Fitter at the WH. #S10e136

Mar 16th, 2024 17m 41s

Do this study for UCB: https://Syngap.Fund/QOL24 Two killer publications:Boston -https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9 Penn/ENDD - https://www.sci

#RareOnTheHill and #SRFboard in DC were epic. It’s going to be a great, year, get some #RareBrewCoffee! #S10e135

Mar 5th, 2024 19m 26s

DC was epic, come next year!- Board Meeting and Leadership Team.- Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson! https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFz

A very important questionnaire. Repurposing update & ethics. Grant shaping in progress! #S10e134

Feb 24th, 2024 35m 11s

#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2IRochester - Check. I asked in #S10e132 to do this and you stepped up, thank you. We hit 200!Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A The intersection of bioma

What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called? #S10e133

Feb 14th, 2024 13m 16s

A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611 B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)D. Confusing https://onlineli

Congratulations to Encoded, Jaguar, Aparito and what will we count? How will we know these therapies are working? #S10e132

Feb 7th, 2024 15m 5s

TWO Gene therapy INDs approved in the past week!JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-a

SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131

Jan 23rd, 2024 19m 53s

SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131Three patient stories… with the same conclusion, we don’t know enough about this disease. - VNS, very few meds. If that is

2024 is off to a GREAT start. Time to get clinical, let’s get all these studies oversubscribed and make sure industry knows we are ready. #S10e130

Jan 13th, 2024 13m 26s

All week on an article (coming soon), but still time to…Meet a couple of new parents, hi Stacey Miller. Conf planning for LA is ON! Stacey will be heading to Stanford. https://curesyngap1.org/events/conferences/syngap1-conference-2024/ See

Happy New Year! Happy 10th Birthday Tony! Congrats #Longboard. Publication update. Good feedback and frustrating stories. #S10e129

Jan 5th, 2024 23m 15s

I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67. Here is the data:https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-announces-positive-to

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128

Dec 23rd, 2023 16m 28s

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128A few studies to make sure you are in over the holidays! One brand new!NEW!!! GLOBAL - Every english speaking care

Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e127

Dec 15th, 2023 10m 15s

12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/pr

A patient dosed, new site, audited financials, conference reviews, EOY giving, two studies to join! - #S10e126

Dec 13th, 2023 6m 54s

Today a SYNGAP1 patient was dosed with 4PB. Thank you Dr. Grinspan!Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org Finances, we have two years of audited financials on https://curesyngap1.org/finances/ There are

ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125

Dec 6th, 2023 12m 42s

ICD-11 = LD90.Y #LD90Yhttps://x.com/cureSYNGAP1/status/1730629792137883800Adult paper and studyhttps://x.com/AledoNeuro/status/1726206128390848604AES - Lots of SYNGAP1 incl paper with ciitizen datahttps://x.com/JillianLMcKee/status/173

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123

Nov 19th, 2023 13m 8s

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23#SyngapConf https://Syngap.Fund/RT23To help onsite with set up, registration, or anything else, contact Ashley (

The more we own our EEGs, the sooner we get a biomarker. Simple. And remember to get Dinner tickets for the conference! - #S10e123

Nov 3rd, 2023 9m 22s

Three Todos:1 - Come to the #SRFconf and be sure to buy dinner tickets!https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund 2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.co

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier

Nov 1st, 2023 10m 55s

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier We need endpoints and assessment tools. We can help make it

SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121

Oct 25th, 2023 17m 21s

“The grant will fund the computational analysis of SYNGAP1  missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”

Meetings Matter. Join this community at the #SyngapConf. The Gala was a hit (again). And our report from #PCEM2023. Vicky’s at #Bio - #S10e120

Oct 24th, 2023 12m 26s

#SyngapConf Conference Agenda Announced!https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf Register

“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble - #S10e119

Oct 10th, 2023 13m 37s

My trip summary to CHOP.Melissa and her family are remarkable. “Doing this for the next generation.”Why are we afraid to hope? Because fear is winning. Everything comes from Fear or Love. Focus on the love. Feed that one.https://www.de

#SyngapCensus, #UFDCure Cannonball, Scramble, PRAX-222 & ciitizen, and a #mustread — #S10e118

Oct 4th, 2023 15m 16s

#SyngapCensushttps://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297#UFDCure Cannonball - October 4-6https://www.syngapresearchfund.org/cannonballEffie on CBall https://effieparks.com/podcast/effisode-07

Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info - Cannonball is next week! — #S10e117

Sep 29th, 2023 11m 34s

CALLS TO ACTIONPlan on Rare on the Hill - Week of February 25th in DCWatch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2ITimeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/ App

Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116

Sep 19th, 2023 12m 55s

Congrats to…- Allan Blake on his airborne fundraiser for SRF UK- Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes)- Beacon on their FDA approval on the Sleep Headband Dream 3S- Soiree 8/26 - $300K net rai

Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116

Sep 19th, 2023 12m 55s

Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised