Syngap Research Fund

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Syngap Research Fund
AbbreviationSRF
MottoCollaboration. Transparency. Urgency.
Formation2018
FounderMike Graglia, Ashley Evans
Websitesyngapresearchfund.org

The Syngap Research Fund is a rare disease non-profit organization based in the United States. Its mission is to improve the quality of life of SYNGAP1-related intellectual disability patients through the research and development of treatments, therapies and support systems. The Syngap Research Fund is listed as a patient organization on the National Organization for Rare Disorders (NORD) database and on the National Institutes of Health's Genetic and Rare Diseases Information Center.[1][2]

History

The Syngap Research Fund was founded in 2018 with the primary purpose of supporting research focused on gene therapies for SynGAP patients.[3] It was established in the state of California and was designated a Tax-exempt status|tax-exempt public charity in the United States by the Internal Revenue Service under Section 501(c)3.

Programs

The Syngap Research Fund provides grants to research institutions where the Principal investigator has knowledge of SynGAP and/or key skills essential for developing therapies for SynGAP patients.

Grants

The Syngap Research Fund has issued more than $700,000 in grants to the following researchers:[4]

  • Dr Jimmy Lloyd Holder at Baylor College of Medicine to develop and characterize induced pluripotent stem cell (iPSC) lines to support the research at Scripps.
  • Richard L. Huganir at the Johns Hopkins School of Medicine to research SynGAP Model organism and to explore naturally occurring antisense oligonucleotides that relate to SynGAP.
  • Daniel H. Lowenstein (physician)|Dr Daniel Lowenstein at University of California, San Francisco|University of California San Francisco to support the 2019 Precision Medicine for Epilepsy Conference.[5]
  • Dr Marcelo Pablo Coba and Dr Giorgia Quadrato at the University of Southern California to support the purchase of a Willow Microelectrode array system to enhance research into SynGAP Organoid|organoids.[6]

Advocacy

The Syngap Research Fund has advocated in favor of personalized medicine in front of the Congressional Personalized Medicine Caucus.[7] It has also advocated for the creation of an ICD-10 classification for SYNGAP1-related intellectual disability.[8]

Scientific Advisory Board

  • Richard L. Huganir
  • Ingrid Scheffer, AO FAA FAHMS
  • Daniel H. Lowenstein (physician)
  • Heather Mefford, MD
  • Annapurna Poduri, MD, MPH
  • Elise Brimble, MSC, MS, CGC

Partner Organizations

The Syngap Research Fund partners with the following rare disease and SynGAP organizations:

  • Global Genes
  • Combined Brain
  • Epilepsy Leadership Council[9]
  • Personalized Medicine Coalition[10]
  • AGENDA
  • Simons Foundation
  • CALRARE
  • Syngap Global Network
  • Overcôme Syngap1
  • SYNGAP Elternhilfe
  • Syngap1.ch
  • SynGAP Research Fund Australia
  • Leon & Friends

See also

  • Intellectual_disability
  • Seizure

References

  1. "Syngap Research Fund". NORD (National Organization for Rare Disorders). Retrieved 2020-07-05.
  2. "SynGAP Research Fund". Genetic and Rare Diseases Information Center. Retrieved July 6, 2020.
  3. "J. Michael Graglia, 2001. Managing Director & Co-Founder, SynGAP Research Fund (SRF)". The Paul & Daisy Soros Fellowships for New Americans. Retrieved July 6, 2020.
  4. "Family groups, researchers join forces to solve mysteries of autism gene". Spectrum News. July 10, 2019. Retrieved July 6, 2020.
  5. "Epilepsy Precision Medicine Conference". September 16, 2019. Retrieved July 5, 2020.
  6. "USC scientists use brain organoids to study intellectual disability, with support from the SynGAP Research Fund". USC Stem Cell. Retrieved 2020-07-06.
  7. "Briefing on Personalized Medicine". Federal Telemedicine News. March 9, 2020. Retrieved July 6, 2020.
  8. "ICD-10 Coordination and Maintenance Committee Meeting" (PDF). CDC. March 2020. Retrieved July 5, 2020.
  9. "Patient/Family Organizations". American Epilepsy Society. Retrieved July 6, 2020.
  10. "PMC Membership" (PDF). Personalized Medicine Coalition. June 2020. Retrieved July 6, 2020.

External links

This article "Syngap Research Fund" is from Wikipedia. The list of its authors can be seen in its historical. Articles taken from Draft Namespace on Wikipedia could be accessed on Wikipedia's Draft Namespace.