SynGAP Research Fund Announces Grant to Heller Lab of Neuroepigenetics

The SynGAP Research Fund (SRF) announces a new research grant award to the Heller Laboratory of Neuroepigenetics in the Perelman School of Medicine at the University of Pennsylvania

PALO ALTO, Calif., Nov. 19, 2020 /PRNewswire/ -- The SynGAP Research Fund (SRF) announces a new research grant award to the Heller Laboratory of Neuroepigenetics in the Perelman School of Medicine at the University of Pennsylvania. The lab will receive $130,000 over two years towards funding a postdoctoral fellow who will focus on epigenetic regulation of SynGAP1.

SYNGAP1-related intellectual disability is a rare genetic disorder caused by a variation on the SYNGAP1 gene, with over 650 diagnosed patients accounted for globally. It leads to several neurological issues in patients, including mild-to-severe intellectual disability, epilepsy, autism, sleep issues, hypotonia (low muscle tone), apraxia (delayed/no speech), impulsivity & aggression.

Dr. Heller’s study will focus on investigating epigenetic mechanisms to help uncover druggable targets that can increase SynGAP expression from the “good” copy of the gene and be used to develop a treatment. The study will first uncover the cellular mechanisms that govern SYNGAP1 gene activation. Next, tools will be developed to artificially activate SYNGAP1 in the brain. The goal is to design a treatment intervention that is useful and effective at all stages of development, for all SYNGAP1 patients.

“While much is known about the function of the SYNGAP1 protein in the brain, little is understood on the regulation of the gene,” says Dr. Heller. “We aim to uncover the mechanisms for activating the SYNGAP1 gene, in order to aid in the development of therapeutics. As the aunt of a SYNGAP1 patient and as a neuroscientist, I am eager to contribute to research on this disorder.”

Michael Graglia, Co-Founder and Managing Director of the SynGAP Research Fund says, “We created SRF to accelerate therapies for our loved one--in a timeframe that matters. Supporting committed and brilliant researchers, like Dr. Heller, to develop the knowledge of SYNGAP1 Epigenetics and therefore accelerate the various genetic therapies which SRF is tracking is why we exist. We are excited to help build the SynGAP research community by partnering with another world-class institution.”

The grant was made possible by a fund-raising effort (#SRFHeller) supported by dozens of families; it included a matching donation from a group of SRF board members, a 24 hour YouTube livestream by #UFDTech, a sibling-run lemonade stand (#Lemonade4Syngap), a 420km charity bike ride around Lake Vattern in Sweden (#Cycle4Caspian), and a generous contribution from Tartu University Hospital Children’s Foundation in Estonia.

ABOUT SYNGAP RESEARCH FUND

SRF, incorporated in 2018, is a 501(c)(3) public charity. The mission is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies and support systems. Completely parent led, SRF is the largest non-government funder of SynGAP research. SRF’s mantra is Collaboration, Transparency & Urgency. The founders cover all operational costs, allowing 100% of donations to go to research. SRF is a member of the Precision Medicine Coalition, combinedBrain and Global Genes. For more information, visit www.SyngapResearchFund.org.

ABOUT HELLER LAB OF NEUROEPIGENETICS AT PENN MEDICINE

The Heller Lab in the Perelman School of Medicine at the University of Pennsylvania studies the mechanisms by which epigenome remodeling regulates neuronal gene function and behavior, through techniques such as viral delivery of novel epigenetic editing tools and high-throughput sequencing to identify gene expression changes to better understand the causal relevance of epigenetic remodeling in the brain. Penn Medicine is one of the world’s leading academic medical centers, and the Perelman School of Medicine is consistently among the nation’s top recipients of funding from the National Institutes of Health, with $425 million awarded in the 2018 fiscal year.

Contact:
Peter Halliburton, SRF Development Director
peter@syngapresearchfund.org

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SOURCE SynGAP Research Fund

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