SynGAP Research Fund (SRF) for SYNGAP1-Related Disorders

???? New SYNGAP1 #SRFWebinar with Virginie McNamar & Mike Graglia ?? SRF | SRF’s 2024 Impact Report ?? Thursday, March 27 ?? 12pm PT ?? 3pm ET ??8pm BST ?? https://lnkd.in/eQSzhtcc ??See complete Impact Report here: https://lnkd.in/etUEw4ja #SYNGAP1 #RareDiseaseResearch #SynGAP #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #Neurology #Genetics #Pediatrics #epilepsy #autism #GeneticCounseling #RareDisease #Fundraising #Nonprofit #SYNGAP1

"Kallen is always there to give Brycen a helping hand, and in Kallen’s own words, “I will always be there to hold his hand.” Hilary Volz, SRF State Ambassador (MI), shares her son Kallen's #SYNGAP1Sibling story! https://lnkd.in/g3fvCmw3 #CureSYNGAP1 #SYNGAP1 #Sibling #Family #WednesdayWarrior

#SYNGAP1Stories NEW EPISODE! "As a patient advocate, I want to accelerate the availability of meaningful treatments that are safe and effective for our kids!" https://lnkd.in/gn77SqHA #SYNGAP1 #SYNGAP1StoriesJoey #Epilepsy ?? #Autism ?? #IntellectualDisability ?? #RareDisease #Advocacy #CureSYNGAP1

SYNGAP1 #UnMetNeed bucketed by Medical, Behavior/ID & Impact on Family - #S10e166 https://lnkd.in/gJnJ7G-N Tuesday, March 18, 2025 - Week 12 SYNGAP1 & Unmet Need Preface -Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience. When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories. -This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 caregivers are tired of trying to explain to people how this disease hits you. Medical: Existing treatments/polypharmacy is woefully inadequate & worsens as patients age: -Unrelenting intractable and worsening seizures cause side effects and require constant vigilance and partnership with Neuros -Medication changes can cause issues such at rage -Long-term side effects, e.g., bone health issues, from chronic medication use -Drug-drug interactions (DDIs) are rarely addressed despite complex prescriptions from multiple specialists (Neuro, Psych, Primary, supplements, etc.) -Some go to challenging non-pharma options: Not to mention tube feeding, keto diet, and neuro surgical options like VNS/CC as well as hip surgery for severe gait. Behavioral & ID: Our kids have enough physical ability to make behavior very challenging: -Pain and behavior compounded by being non-verbal as they grow -Violence against family—bites and scratches -Violence against self, just sheer frustration -Elopement & no sense of danger as a constant stress/burden -ABA can be helpful if the team is high caliber but often fails due to staffing, rigidity, insurance or lack of skill. Family: Toll on caregivers & family is a heavy cost that is rarely counted: -Almost all of our kids have severely disrupted sleep and that is a form of torture for the whole family. -Exhaustion from the diagnostic journey, assessments, and caregiving. -Marriages fall apart under the pressure. -Nobody can care for our kids—no respite, no support, schools fail. Parents are afraid to die, fearing what will happen to their children. -Siblings are the last to be noticed but first affected. Emphasize: The patients are very complex, the system isn’t working, families are in crisis, and they need real solutions. Parents will travel: -We’ve had 100 patients go to CHOP from all over the USA, no cure here, just expertise. -Example: the day I wrote this presentation I saw these 4 Facebook posts: Virginie McNamar at Children's Hospital of Philadelphia https://lnkd.in/guPKHcA9 Beata Tarasiuk at Children's Hospital Colorado https://lnkd.in/gSk3B5gz... Corey Baysden, DMSC at Weill Cornell Medicine with Zachary Grinspan, MD MS https://lnkd.in/gX3PNwi3 Rainy at University of California, San Francisco with Hope: https://lnkd.in/g74Jiu7K Episode 166 of #Syngap10 ...

Another #SYNGAP1 Grant funded by SRF on our mission to #CureSYNGAP1. We couldn't do this without the generosity of our families, donors, and sponsors! https://lnkd.in/gEv8brr7 #Research #SRD #Autism #Epilepsy #IntellectualDisabilities Julia Dallman University of Miami

Don't sit on the sidelines...get in the race to #CureSYNGAP1! Create your team, join us in the #Sprint4Syngap! ?? https://lnkd.in/gRFXJM2p #SYNGAP1

Discuss and advance orphan drug development and enhance access to life-saving therapies for individuals living with a rare disease like #SYNGAP1 at the World Orphan Drug Congress on April 22-24 -- SRF is joining top pharmaceutical and biotech companies, government and regulatory authorities, patient advocacy groups, payers, investors and solution providers. Get your tickets! - https://lnkd.in/dS7Mh9ds World Orphan Drug Congress USA #CureSYNGAP1 #Advocacy

#SYNGAP1 has stolen precious moments from our children. We’re determined to fight for a future where there is a possibility that they can live full, independent lives. Read more about the struggles our families experience at https://lnkd.in/gYsaZGb2 Donate at https://lnkd.in/dxf4bBFw #cureSYNGAP1 #WeNeedACure #RareDisease #SYNGAP1RelatedDisorders

?? Milestone Alert ?? The Children's Hospital of Philadelphia (CHOP) Natural History Study has reached an incredible milestone - they've now seen their 100th Syngapian! This is HUGE for our rare disease community, representing approximately 25% of all known Syngapians in the United States. This data collection is vital for advancing our understanding of Syngap1 and gives families access to providers who understand #SYNGAP1. ?? ??The study is still recruiting and SRF assists families in need to make the trip! If you're a SYNGAP1 family who hasn't participated yet or want to go back, here's your chance to be part of this groundbreaking research. Get involved by emailing: [email protected] cc: [email protected] More info ?? https://lnkd.in/gcBfws2N or https://lnkd.in/gUFVyQn6 #CureSYNGAP1 Children's Hospital of Philadelphia Research Institute

"In Dubai, they don’t call individuals with a disability, disabled. They call them a ‘Person of Determination’! And that …is our Hakan. He loves fiercely, he laughs and smiles about the small things in life, he works tirelessly at therapies thrust upon him." #WarriorWednesday ?? Hakan (6 years old) from ??the United Kingdom Read more at https://lnkd.in/dYm3dV_4 #SRFWW no. 211 #SYNGAP1 #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #Neurology #Genetics #Pediatrics #Epilepsy #Autism #GeneticCounseling #CureSYNGAP1