All Episodes

Earnings reports: CAMP4 files. Stoke optimizing. Praxis on track. 2026 Video! #S10e207

Longitudinal Data Matters! Prioritized list of studies! #Sprint4SynGAP a great success! #S10e206

Comment on Haystack Petition to FDA. New Board of Trustees. #ICD10 F78.A1 #CureID #S10e205

Global Advocacy. #NL51. Snippets! #SYNGAPcensus = 1,761. UT Arlington & Cook Children’s. #S10e204

DSC-III and Data - CURE SYNGAP1 is working tirelessly to increase SYNGAP1 Knowledge #S10e203

It is time to get ready for clinical trials, this is how. #S10e202

We need to raise funds for the critical work of CURE SYNGAP1, join us with #Sprint4SYNGAP #S10e201

#RareDiseaseWeek! We are doing much beyond grants… too much. Get the Citizen Health App! #S10e200

Support Clinical Trial Design for #SYNGAP1 via biobanks, EEGs and Fundraising. #S10e199

All #SYNGAP1 Families need to take part in our Natural History Studies: ProMMiS & Citizen #S10e198

Funding Priorities. Biorepository. Genetic Testing. How to move for a clinical trail! #S10e197 Monday, February 2, 2026 - Week 6

Stoke Tx shows us that ASO Clinical Development is accelerating. #S10e196

SYNGAP1 Related Disorder (SRD) Key Talking Points & why we need to use them. #S10e195

Becky Quick launches CNBC Cures, Finding Your Voice & Key Talking Points for SRD! #S10e194

Stockdale Paradox: Not getting out at Xmas, but we will win. #SynGAPCensus = 1,707. #S10e193

AES ‘25 was incredible, Fundraising, PRV, Behaviors, Posters/Pubmed & Thank you. #S10e192

New book by #SYNGAP1 mom for and about #GlassChild (Sibling of Special Needs) #S10e191

AAV. Resources on cureSYNGAP1.org. Congrats to Ultragenyx & Novartis. Conf is in 5 days! #S10e190

#CureSYNGAP1 Conf: 1 week! #GivingTuesday: 5 days. #ProMMiS. Mvmt & Sleep papers. #S10e189

It’s time to UNLOCK THEIR TOMORROW - let’s raise funds. Also: CAMP4 and our name. #S10e188

Clinical Research, AI Dx, #NL47, Survey, #Autism Press, 6 Days to Register for #SYNGAP1conf #S10e187

#SyngapCenus 1,675 Teacher Handout CC/VNS Citizen Paper $CAMP starts GLP Tox CIRM funds S1 #S10e186

F78.A1,the code for #SYNGAP1, turns 4, make sure we use it. #ICD10 for #RareDisease Update. #S10e185

DSC - RDCRN - NCATS - NIH Press! #AAV in #Cell. SRF at CB. Scramble for SYNGAP1 next week! #S10e184

You need a #CRID. SRF $1M to $CAMP noticed in Equity Research! #BeaconOfHope was great. #S10e183

CURE SYNGAP1 joins biotech investors in CAMP4 Tx’s $100M Raise for ASO Program $CAMP #S10e182

Why & How Do Patient Advocacy Groups Matter? Party Friday! #SYNGAP1Conf soon! #Elopement #S10e181

#IEP: Syngapians don’t like the heat 🌡️ #BeaconOfHope #IEC2025 #CitizenHealth #DSC #CFC #S10e180

GALA is now, #StokedAboutStoke, Go Grann, Our Villages, CHOP/NIH, More on Elopement. #S10e179

How to talk about #ELOPEMENT in #SYNGAP1 with Schools, Judges & Police Officers. #S10e178 Monday, August 18th, 2025. Week 34.

Embracing Complexity, Another Pipeline Neuren Pharma, It’s Party Time #S10e177

Why join the Relutrigine study from Praxis for DEEs with motor seizures? - #S10e176

Global Overview of SYNGAP1 Natural History Studies - Support the SYNGAP1 #ProMMiS – #S10e175

CENSUS, SYNGAP1. It is racing to a better future b/c of our families. #S10e174

TOMORROW 6/21 IS SYNGAP1 AWARENESS DAY #ILOVESOMEONEWITHSYNGAP1 #S10e173 Friday June 20, 2025. Week 25

CAMP4, JAX and Allen present about ASCGT, JHU Article, CRISPR, Repurposing, 4PB & SRF News #S10e172

ADULT 🇵🇹 🇫🇷 🇪🇸 🇳🇱 🇬🇧 🇨🇦 caregivers PLEASE complete Andrade Study ASAP.   #S10e171

#S10e170 - Sprint is tomorrow!  WODC Update.  ASOs are coming… Get ready.

ProMMiS Data Webinar up! New Board Sprint4SynGAP @ $168K! Catatonia ASO?s Siblings Missense #S10e169

Time to Lean In FEROCIOUSLY on Clinical Trial Readiness–Frazier CHOP/CHCO will you say Yes? #S10e168

Global CTR Survey, Two New PRs, Sprint4Syngap Hype & Community Voices - #S10e167

SYNGAP1 #UnMetNeed bucketed by Medical, Behavior/ID & Impact on Family - #S10e166

Save Medicaid: A Critical Moment for Our Loved Ones

Tell me your UnMet Need. CHCO ProMMiS!  Gut Paper with Citizen Health.  Rx Repurposing  - #S10e164

RDD25 - Federal Funding - Hope vs Despair? Disability is Political. Take it or Advocate? #S10e163

We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET -  #S10e162

Impact Report is out! Read the Stanford Knowles article. Sign up for Dreem. - #S10e161

Don’t give up on your SYNGAPian at any age, Go Aaron! and advocacy matters - #S10e160

Study Spotlight: Rochester 3 Needs Toddlers, Minovacca's Neuro Focus, & Key Research Updates - #S10e159

SRF Roadmap Paper is published. Read and share with family and supporters. - #S10e158 Wednesday, January 15, 2025

2025 is the year we double down on SYNGAP1.  Tune in now. -  #S10e157

AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156

Annie -  #S10e155

Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154

Progress in Studies, Trials & Community Milestones; Conference #S10e153

The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152

Nancy Leib Kessler is exceptional: Fundraising, Sibling, Advocating. Do Frazier and come to #SRFConf, #S10e151

UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149

Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148

#SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147

Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146

A tale of three grants… Coba Grant, Quadrato Grant & Anderson Paper! #S10e145

1,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144

Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143

NHS in Colorado! Real talk about new therapies. Planning for RAA & the Conf! #S10e142

SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141

Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140

SRF is a “Get-to…” not a “Have-to..”  Do something & Go big.  #S10e139

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)

Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114

Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113

Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112

So much news, double catch up episode. #S10e111

Adam’s Camp is amazing & so are compression vests #S10e110

FAQs for SRF’s SYNGAP1 Conference 2023  #SYNGAP1 #SRFconference #Orlando  #S10e109

Happy Birthday SRF! Five years of making the future better! #FasterCures #UCLA #EEG #S10e108

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107

THREE studies to join, animal models to celebrate, webinars to watch, TWO articles (Memphis & Chicago), blogs en español & pods to listen to, SO MANY EVENTS TO COME TO, also SRF in Mexico!

This is the ENDD of excuses. Sign up for the CHOP ENDD Study - #S10e105

Connection for Science - #S10e104

All About #Sprint4Syngap 2023! #S10e103

McKee Data Webinar on Thursday! #SPRINT4SYNGAP in 4 days! The Emergency Plan, DSF Caregiver Connect, PGx, Cool Paper, Biorepository Collection! #S10e102 #DNAday

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101

💯Episode 100!  Survey, GI, Biorepository, Press, PG, ASO Training, Sprint3 in 3 weeks!!!  #S10e100

🌞🐒🐸SYNGAP1 is HOT: Gene Therapies, Monkey, COMBINEDBrain, Biorepository, Frazier, Frogs, 1,251 patients & studies #S10e99

Building the SYNGAP1 SRF House - using the Milken Fastercures Research Partnership Maturity Model - #S10e98

Talking to families with 2 year olds, 3 Webinars not to miss, and Sprint4Syngap, Stoke & Praxis Updates, GG Next 2023 Report - #S10e97

Rare Disease Day 2023 was epic and you should have been there.  Sprint and Webinar update. #S10e96

Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95

Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94

More on ENDD gift at Penn, but first, Finding SYNGAP1 Patients, Hotels & Grief in Florida - #S10e93

10 Reasons SYNGAP-land is hopeful & exciting today #S10e92

Why we need to keep talking about SYNGAP1 #S10e91

Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90

JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89

New Grant, Rare Affair, SYNGAP1 research and events #S10e88

SRF 2022 Numbers, Great Press, a wonderful wedding. #S10e87

#SYNGAPconf22 was a hit, join us in 2023… #S10e86

#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85

#ImpatientOptimism is the appropriate feeling for this moment… #S10e84

#StokeTx just showed us the future & will open the SYNGAP1 meeting #S10e83

Soiree: Incredible, Boston: Fabulous; & two to-dos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82

SYNGAP-A-PALOOZA ‘22, NASHVILLE & a bit more on ASOs #S10e81

ASOs in the news, let’s discuss in Nashville!  #S10e80

#UFDcure CANNONBALL2 is a wrap/half done. #S10e79

Event recaps with special guest hosts  #S10e78

SYNGAP1 News: Boston Trip Report, Precision Neuroscience Summit and Relentless Progress. #S10e77

Every Patient Matters. Global Edition: SRF touching Ukraine/Poland 🇺🇦🇵🇱, Greece 🇬🇷, Colombia/LatAmerica 🇨🇴, Netherlands 🇳🇱 & UK 🇬🇧… #S10e76

We 💜Events, Drugs 💊 Rarebase & NOSpharma, Data 👩🏾‍💻 Simons & Invitae #S10e75

Praxis + Ciitizen = PROGRESS #S10e74

Leon #S10e73

A day in the life of SRF: Greece, Ukraine, Rarebase, Zempleni #S10e72

THE NEXT FOUR MONTHS WILL COME FAST - GET READY! #S10e71

YOU CAN HELP PRAXIS TO PREPARE FOR CLINICAL TRIAL READINESS FOR SYNGAP1 IN PARTNERSHIP WITH CIITIZEN & SRF

Why the Bowie grant is so exciting!  Our second collaborative grant! #s10e69

This week was ripe with a promising future! #s10e68

Take time to grieve & then come back to this community to grow. #s10e67

Missense Variants are Finally Getting Attention.  Reclassification.  Grants.  #S10e66

We are learning from the best - A read out from #DSFinDFW Conference. #S10e65

Throw the doors open, build your team, tell everyone. #S10e64

Are you coming to our conference in December? Some goodies to share with your favorite #RareDad - #S10e63

BONKERS week. #S10e62

Thank Goodness we have a dynamic team!  Some personal news. #S10e61

Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising!  #S10e60

We raise funds, make mice & they make preprints!  It’s working!  #S10e59

Praxis Announces SynGAP Program & #Sprint4Syngap is a global success!. #S10e58

We need funding, companies and doctors. #S10e57

Why will companies work on #SYNGAP1? #S10e56

#Sprint4Syngap is just 3 weeks away! #S10e55

LOTS OF NEWS - 1055 Patients, it’s #SyngapCensus Day! #S10e54

Happy Epilepsy Awareness Day! #S10E53

We are starting to find lots of adult patients, what now?

Putting this work in perspective…

Another week in 5th gear, buckle up

Rare Disease Day is Monday!  And here at SRF we can feel it all happening…

Happy National Caregiver Day!

It’s all coming together - data, trials, research.  Time is now to join in!

You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.

Old School Syngap10 - Lots of great content in 10 minutes.  Fundraising. Blogs. Webinars. Patient stories. Ciitizen.

Special Double Episode: Understanding your particular variant and what to do about it (Hint: #iPSC)

Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1 #S10e43

How to tell your family about SYNGAP1

2021 by the numbers, 985 patients counted, exciting work ahead!

Let’s catch the Genetic Therapy Tsunami for SYNGAP1!

This is Real Life! Science is moving forward and we are on board

Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.

Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional

Grateful for the incredible SRF team/family...

Our kids will live long lives and do beautiful things, let’s make sure we help them as much as possible.

Multiple studies enrolling now, start with Ciitizen and keep going...

Gather and connect. Learn from those who have come before. Keep hope alive!

Gala. Webinar. Crypto SunBlocks. ICD 10 AND 11. Thank you. Sign up for Ciitizen by 11/15/21.

Coming in hot!  BCH Grant putting Ciitizen to work & the Gala is next week!

Inspiring your community and raising awareness for SYNGAP1

F78.A1 is the ICD-10 code for 883 SynGAPians today! #UFDcure Cannonball in 5 days! Guest host, Ashley Frye

Keep growing our community, we need each other!

Rarebase explained and who is going to win the race, we don‘t care, we just need it fast.

The future is coming, let’s build it!

Hope is the smartest move!

Two conversations with the same conclusion...

Telling our story and why it matters.

Webinars,  Mugs, Blog, GCs, Ciitizen, Cure, OUAG, CTR

Connection is everything!

Great things afoot! Join us. - Episode 20 of #Syngap10 - July 23rd, 2021

Let’s @cureSYNGAP1 - Episode 19 of #Syngap10 - July 16th, 2021

”Seizures, Communication, Behavior, Sleep, Other” Is that right? - Episode 18 of #Syngap10 - July 9th, 2021

Let’s get to work for these 808 kids! - Episode 17 of #Syngap10 - July 2nd, 2021

Put your mask on first. - Episode 16 of #Syngap10 - June 25, 2021

Splash & #SYNGAPlove in 3 days, DSC & BCH Grants, more ICD attention! - Episode 15 of #Syngap10 - July 18th, 2021

Community and #SYNGAPlove - Episode 14 of #Syngap10 - June 11, 2021

Newsletter, SSB, Ciitizen growth, Frazier, Sprint, ICD-10 & you are not alone. - Episode 6 of #Syngap10 - April 16th, 2021

The things we do for LOVE! - Episode 13 of #Syngap10 - June 4th, 2021

IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB! - Episode 12 of #Syngap10 - May 28th, 2021

We must be hopeful - and it makes sense to be so. - Episode 11 of #Syngap10 - May 21st, 2021

Scales, Grands, Ciitizens, Kayo, iPSC - Episode 10 of #Syngap10 - May 14th, 2021

Adults, New parents, ABA, Misense and Money - Episode 9 of #Syngap10 - May 7th, 2021

BREAKING NEWS 🚨re ICD-10 & other goodness around #SSB30 & #sprint4syngap - Episode 8 of #Syngap10 - April 30th, 2021

Sprint. BCH. Ciitizen. Meetings. Clicks. Docs. Wed. Volunteer! - Episode 7 of #Syngap10 - April 23rd, 2021

EEG Biomarkers, SSB Study, Ciitizen, CNF Survey, Sprint4Syngap - Episode 5 of #Syngap10 - April 9th, 2021

Ciitizen Study happening! #SyngapCensus = 762, Caren, Kyle & Sprint4Syngap - Episode 4 of #Syngap10 - April 2nd, 2021

Webinars, Warriors, Work, Caren subtitles & Sprint4Syngap - Episode 3 of #Syngap10 - March 29th, 2021

Mike updates Syngap Families on the work of SRF. - Episode 2 of #Syngap10 - March 19th, 2021

Mike Graglia updates Syngap Families on the work of SRF. - Episode 1 of #Syngap10 - March 12th, 2021