Skip to main content
Heinzen 2023
Erin Heinzen, PharmD, PhD, Associate Professor

Erin Heinzen, PharmD, PhD (Associate Professor, Pharmacy and Genetics) was awarded a new R21 grant from NINDS for her project titled “Genotype-informed single-cell transcriptomic profiling of mosaic brain tissue”.

Somatic variants that arise during embryonic corticogenesis and result in brain mosaicism are increasingly recognized as significant contributors to the genetic risk of neurodevelopmental and neuropsychiatric conditions. The discovery of disease-causing somatic variants in the brain has not only contributed to the identification of novel genes and refined our understanding of the underlying genetic architecture of a range of neuropsychiatric diseases, but they also provide powerful research tools that can be used to understand how cell-type-specific changes contribute to disease pathophysiology. In this study, Dr. Heinzen’s lab seeks to use single-cell genomic approaches in mosaic human brain tissue to establish which cell types harbor the disease-causing variants and to determine cell-type-specific transcriptomic changes associated with the variant.