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The Heinzen Lab focuses on the identification and functional characterization of rare genetic variants that cause epilepsy and other neurodevelopmental disorders. The lab uses cutting-edgesequencing approaches to identify germline and somatic variants that cause epilepsy and other neurodevelopmental disorders. Building on gene discoveries across the field, we study human induced pluripotent stem cell derived neuronal models and use novel single cell approaches to study human brain tissue to understand how the disease-causing variants alter the developing brain. Working closely with family foundations and networks of collaborators, we have established human neuronal models to study the effects of rare genetic variants in SLC35A2, NFIX, and SETBP1, and emerging plans to study ATP1A3 and PPP3CA. As we discover how the genetic variants cause disease these models are becoming invaluable tools to identify and test novel treatment approaches for individuals suffering from SLC35A2-epilepsy, Malan Syndrome, Schinzel Giedion Syndrome, SETBP1 haploinsufficiency disorder, Alternating Hemiplegia of Childhood, and PPP3CAneurodevelopmental conditions.
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CLINICAL/RESEARCH INTERESTS:
Bioinformatics, Cell Biology, Developmental Biology, Drug Discovery, Genetics, Molecular Biology, Neurobiology, Stem Cells |