R21 award will fund Bryn Webb’s investigation into newly identified disorder, POU4F1-related ataxia

Bryn Webb, MD, associate professor, Division of Genetics and Metabolism, was awarded an R21 grant from the National Institute of Neurological Disorders and Stroke for her project, “Role of POU4F1 in a Novel Form of Ataxia.” The project will use induced pluripotent stem (iPS) cells to generate cellular models of the human brain to interrogate the consequences of POU4F1 haploinsufficiency. POU4F1, also known as BRN3A, encodes a class IV POU-domain containing transcription factor expressed in the developing and adult brain. Little is known about the role POU4F1 plays in neurogenesis, neuronal differentiation, and neuronal survival in human neurons. This project will uncover the pathophysiology, disease mechanism, and clinical spectrum of disease of POU4F1-related ataxia and will address fundamental questions of human neurodevelopmental biology. The two-year grant is expected to total $463,750.