UPenn’s Orphan Disease Center to amplify SYNGAP1 research: SynGAP Research Fund’s Million Dollar Bike Ride team raises $74,851 for one-year grant

(Press-News.org) Mill Valley, CA – September 5, 2024 – The SynGAP Research Fund 501(c)(3) is proud to announce its continued collaboration with the University of Pennsylvania’s (UPenn) Orphan Disease Center (ODC) through the Million Dollar Bike Ride (MDBR) Pilot Grant Program. ODC is accepting proposals for a grant award of $74,851 to further advance critical research in SYNGAP1-Related Disorders (SRD). Instructions for submitting a letter of interest are available here. Applications are due in two weeks by September 20, 2024.

Why We Participate in This Project ​​The SynGAP Research Fund (SRF) has been partnering with the MDBR at UPenn since 2019. This collaboration has been instrumental in advancing research for SRD. Since 2022, SRF Team has raised $111,778 and secured each year’s matching grant of $30,000, resulting in a total of $201,778 raised for SYNGAP1 research. This ongoing support has allowed us to make significant strides in understanding and developing potential treatments.

In 2022, the UPenn ODC awarded a follow-on grant to Dr. Elizabeth Heller, building on the initial funding provided by SRF. The 2022 grant, totaling $65,705 was composed of $35,705 from SRF’s fundraising efforts, matched by $30,000 from the ODC. Similarly, in 2023, a grant was awarded to Dr. Gemma Carvill, Northwestern University, for her groundbreaking work on missense and variants of uncertain significance (VUS), which builds on her research with EpiMVP. This grant amounted to $61,222, with $31,222 raised by SRF and an additional $30,000 provided by ODC.

Supporting SYNGAP1 Research: New Funding Opportunity Available This year, we are thrilled to announce that $74,851 is available for researchers, comprising $44,851 from SRF fundraising and $30,000 from UPenn’s ODC MDBR program. We strongly encourage researchers to submit their proposals by September 20th, 2024, to continue the vital work of advancing research that supports therapeutic development for SRD.

Quotes from the SRF Team Mike Graglia, the founder of SRF says, “This program is exceptional. The ODC deserves to be proud of it: facilitating fundraising, building community, and moving funding to science. I’m grateful to Aaron for bringing SRF into this effort and to Kali, Peter, Andra, Justin and all the families who give their time and energy to funding. Families building community and mobilizing resources is the only way we are going to see therapies in a timeframe that matters. Time is brain.”

Aaron Harding, SRF’s Team Captain and an avid cyclist, says about the MDBR, “In 2019, we started as a non-grant-matching team since I was riding anyway, but it was a great opportunity for SRF to become a part of something bigger and to promote the MDBR event.” Aaron added, “In 2021, Kali Worth’s incredible friends, led by Paula Lee, became the foundation of the SRF Cycling Team. We continue to grow the SRF Team each year; all thanks goes to the families.”

“The ODC MDBR SRF Funding allowed us to continue our research on SRD,” says SRF SAB member Elizabeth A Heller, PhD. “We apply CRISPR activation to the SYNGAP1 gene in rodent models of human patients. In this way, we restore the levels of SynGAP to rescue haploinsufficiency. Although CRISPR activation is a new technology, it is already finding its way into the clinic, underscoring the translational potential of our research.” 

Andra Fox, mom of Reagan, said this about her first time participating: “What impacted us even more than the fundraising and the event itself was the experience of walking into a room of strangers and feeling the instant connection as parents of Syngapians. I felt it in the way they interacted with my daughter, the questions they asked, and in the stories and laughter we shared.” Andra, who rode with her husband, Isaiah, added, “I’m also grateful to the SynGAP Research Fund for their continued efforts and advocacy for all families affected by SRD.”

About SYNGAP1-Related Disorders (SRD) SYNGAP1-Related Disorder (ICD-10 F78.A1; ICD-11 LD90.Y) is a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SynGAP protein levels. SRF has identified over 1,454 patients to date, and the number grows weekly. This protein acts as a regulator in the synapses (where neurons communicate with each other). When SynGAP protein levels are too low, we see an increase in excitability in the synapses making it difficult for neurons to communicate effectively. This leads to many neurological issues seen in SynGAP patients.

Symptoms of SYNGAP1 include primarily neurological issues, including autism spectrum disorder, intellectual disability, epilepsy, hypotonia (low muscle tone), gross and fine motor delays, and visual abnormalities such as strabismus (crossed eyes) as well as gastrointestinal challenges and disordered sleep.

About the SynGAP Research Fund (SRF) The mission of the SynGAP Research Fund (SRF) is to improve the quality of life for SYNGAP1 patients through the research and development of treatments, therapies, and support systems. 

SRF was founded in the US in 2018 as a 501(c)(3) US public charity, and families created sister organizations for SRF in the UK in 2020, in Europe (Netherlands) in 2022, and in Latin America (Colombia) in 2023. 

Completely family-led, SRF is the largest non-government funder of SynGAP research having committed over $6 million in grants. The founders cover operational costs, ensuring donations fund science & patient-related programs. SRF’s grant program awards one or two-year grants to investigators, physician residents, and clinicians interested in studying SYNGAP1. SRF grants are intended to help researchers explore novel ideas and answer open questions related to the clinical aspects of and therapies for SRD.

For more on SRF, visit curesyngap1.org or follow @cureSYNGAP1 on LinkedIn, YouTube, Instagram, Facebook, TikTok, or X.

SRF is a member of FasterCures, COMBINEDBrain, Global Genes Foundation Alliance, Everylife Foundation Community Congress, Epilepsies Action Network, Personalized Medicine Coalition, Rare Epilepsy Network, Epilepsy Leadership Council, Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA), California Action Link for Rare Diseases, American Brain Coalition, Genetic Alliance UK, Rare Disease UK, Syndromes Without a Name (SWAN UK), Jumpstart Program, Patient Worthy, Autism Brain Net, Innovation and Value Initiative, Rare Disease Diversity Coalition, Cambridge Rare Disease Network, Breaking Down Barriers, Rare-X, Mencap, IndoUSRare, and The World Orphan Drug Congress.

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