Press Release (.pdf)  


Michael Graglia, Managing Director, SRF, (650) 441-4191 -

PALO ALTO, Cal. – July 1, 2019 – The SynGAP Research Fund is pleased to announce it has awarded its first two research grants, totaling $235,500. 

SynGAP Research Fund was established in 2018 to improve the quality of life of patients afflicted with SYNGAP1, a rare neurodevelopmental disorder deriving from genetic mutations within the SYNGAP1 gene. The mutations typically lead to global developmental delay, intellectual disability, epilepsy, autistic features, and other comorbidities. The SynGAP Research Fund awards grants to researchers who have demonstrated a commitment to understanding SYNGAP1 mutations and a desire to develop therapies for affected people.

The fund’s values are: Collaboration. Transparency. Urgency.  The grantees’ proposals embody all three of these values:


The grant to the laboratory of Dr. Jimmy Lloyd Holder, M.D., Ph.D. at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, is to develop and characterize research cell lines. Neuroscientist Gavin Rumbaugh, Ph.D. at Scripps Research in Florida, will use several research cell lines with varying degrees of SYNGAP1 dysfunction in studies to determine how mutations affect SynGAP protein levels in neurons and how those levels impact brain development and functioning. Once characterized, these cell lines will be used as a part of a robotic high-throughput screening campaign to discover drug candidates that reverse neuronal dysfunction caused by SYNGAP1 mutations.


Details of the grant agreements and funding arrangements are available on the SynGAP Research Fund website at


The fund signed these grant agreements a few months after it was incorporated in 2018, with its first disbursement granted at the year’s end. 

“Professor Rumbaugh and Dr. Holder are clear leaders in the SynGAP research community, and the SynGAP Research Fund is excited to support their labs’ continued work on this debilitating disease,” said Michael Graglia, Managing Director of SRF.

“Patients with SYNGAP1 mutations have significant developmental delays, often severe epilepsy, and, frequently, autism,” said Dr. Holder of Baylor. “Developing these cell lines from patients will enable us to work toward personalized therapies for this devastating disorder. This sort of collaborative approach between laboratories with complementary skills is imperative for tackling these difficult problems.”

 “The SYNGAP1 gene encodes a protein that sits inside the synapse and suppresses the excitability of brain networks,” says Rumbaugh of Scripps Research. “The loss of one copy of this gene leads to runaway brain activity.  We have data suggesting that replacing the missing protein may be beneficial, but we need cell lines derived from SYNGAP1 patients so that we can validate our best drug candidates.”  He added, “The support from SRF will make a difference in our search for treatments.”

 “We are grateful for the innovation and focus of Dr.’s Rumbaugh and Holder and are hopeful that their work through this grant and their future research will ultimately help patients affected by SYNGAP1 and related disorders,” said Ashley Evans, Chair of the SRF Board.



About Scripps Research

A leading nonprofit biomedical research institute, Scripps Research is ranked No. 1 in the world by Nature Index for scientific innovation. U.S. News and World Report consistently ranks the institute’s graduate school in the top 10 in the United States. The institute’s unique structure merges foundational studies in biology, chemistry and computer science with translational research to produce the next generation of drugs and advances in digital and precision medicine. On campuses in California and Florida, scientists in the institute’s five academic research departments work hand-in-hand with researchers of the Scripps Research Translational Institute and Calibr, a drug discovery division. Scripps Research trains the next generation of scientific leaders, expands the frontiers of human knowledge and accelerates the development of new medicines to improve lives around the planet.

About Baylor College of Medicine

Baylor College of Medicine ( in Houston is a health science university recognized for excellence in education, research and patient care.  It is the only private medical school in the Greater Southwest and is ranked 22nd among medical schools for research and 4th for primary care by U.S. News and World Report.  Baylor is listed 20th among all U.S. medical schools for National Institutes of Health (NIH) funding and No.1 in Texas.  The Baylor pediatrics program ranked 8th among all pediatric programs, reflecting its strong affiliation with Texas Children’s Hospital, where their faculty care for pediatric patients and their students and residents train.  Currently, Baylor has more than 3,000 trainees in medical, graduate, nurse anesthesia, physician assistant, orthotics and genetic counseling as well as residents and postdoctoral fellows.

About Texas Children’s Hospital

Texas Children’s Hospital, a not-for-profit health care organization, is committed to creating a healthier future for children and women throughout the global community by leading in patient care, education and research. Consistently ranked as the best children’s hospital in Texas and among the top in the nation, Texas Children’s has garnered widespread recognition for its expertise and breakthroughs in pediatric and women’s health. The hospital includes the Jan and Dan Duncan Neurological Research Institute; the Feigin Tower for pediatric research; Texas Children’s Pavilion for Women, a comprehensive obstetrics/gynecology facility focusing on high-risk births; Texas Children’s Hospital West Campus, a community hospital in suburban West Houston; and Texas Children’s Hospital The Woodlands, the first hospital devoted to children’s care for communities north of Houston. Texas Children’s Hospital is affiliated with Baylor College of Medicine.  For more information, go to  Get the latest news by visiting the online newsroom and Twitter at

About the Syngap Research Fund

The mission of the Syngap Research Fund (SRF) is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies and support systems.   Syngap Research Fund, Incorporated is a nonprofit 501(c)(3) public charity (tax ID# 83-1200789) headquartered in Palo Alto, California.  For more information, visit