The STXBP1 Foundation announces a new grant awarded of $154,753 to the Heller Laboratory of Neuroepigenetics at the University of Pennsylvania

The STXBP1 Foundation is excited to announce a new grant awarded to the Heller Laboratory of Neuroepigenetics at the Perelman School of Medicine at the University of Pennsylvania. The Heller Lab has expertise in the fields of neuroscience and genetics, and experience in working neuropsychiatric disorders as well as SYNGAP1, another rare neurodevelopmental disorder.

The grant is a total of $154,753 over the course of 2 years to fund a postdoctoral fellow who will study the cellular mechanisms that regulate gene expression of the STXBP1 protein. STXBP1 is a haploinsufficiency disorder which affects the amount of functional STXBP1 protein produced. A better understanding of how factors influence the amount of STXBP1 protein produced could lead to potential therapeutics and is a key part of our preparation for clinical trial readiness for the STXBP1 community.

The first year of this grant has been made possible by the fundraising campaign of Kevin Goodier and Erin M. Evans in honor of their son, Ned. Kevin and Erin continue their fundraising efforts with a new campaign in hopes of providing funding to cover the second year of the grant. Donations can be made here in honor of Ned.

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The STXBP1 Foundation has provided $50,000 in funding to Children’s Hospital of Philadelphia (CHOP) to develop a Disease Concept Model for STXBP1 disorders