STXBP1 Foundation Awards 2 research grants to researchers at Columbia’s Institute for Genomic Medicine

2021 STXBP1 Grant Recipients

The STXBP1 Foundation is excited to announce that we have funded two research grants totaling $89,400 to researchers at Columbia’s Institute for Genomic Medicine, so far this year. 

Wayne Frankel, PhD
Columbia University,
Director of Preclinical Disease Models, 
Institute for Genomic Medicine

“Identification of brain region and cell-type-specific differentially expressed genes relevant to learning and/or memory deficits in STXBP1+/- mice.”

The aim of this project is to address gaps of knowledge in the gene expression of STXBP1 in different types of neurons in mice and to endeavor to identify biomarkers which could be used to test how well a new medication works. 

Chistropher Makinson, PhD
Columbia University, 
Assistant Professor of Neurological Sciences,
Department of Neurology, and the Institute of Genomic Medicine

“Circuit mechanism of STXBP1-encephalopathy interrogated using human brain organoids”

Funding will be used to expand the number of human brain organoids being developed to evaluate synaptic activation in different human neuron cell types and to support the development of a bioassay for STXBP1.

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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

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Rarebase launches a neuroscience drug discovery platform collaborating with STXBP1 Foundation and 14 other rare disease patient organizations