The Webb Lab studies a novel form of childhood-onset hereditary ataxia linked to heterozygous loss-of-function mutations in the POU4F1 gene, also known as BRN3A. This disorder presents with symptoms such as ataxia, intention tremor, hypotonia, and intellectual disability, with some patients showing progressive cerebellar atrophy. The lab’s work aims to define the clinical phenotype and understand how POU4F1 disruption affects neural development and neuronal identity.
POU4F1 Foundation
The Webb Lab works closely with the POU4F1 Foundation.
The Webb Lab collaborates closely with the POU4F1 Patient Foundation to study a rare, childhood-onset hereditary ataxia linked to POU4F1 mutations. Through this partnership, they’ve built a patient registry to collect detailed clinical data, helping to better define the disorder’s phenotype and guide future research. Together, they recruit and support families, foster trust within the community, and advocate for awareness, ultimately working toward improved diagnosis, understanding, and management of this rare condition.