My ongoing predoctoral research is focused on identifying and characterizing variants in Loose Anagen Hair Syndrome (LAHS), a disorder characterized by excessive shedding or easily pluckable hair during its active growth (anagen) phase. Several genes have been implicated in LAHS, including pathogenic variants of KRT75 (keratin 75) as well as pathogenic variants in PPP1CB and SHOC2 in Noonan syndrome with loose anagen hair (NSLH). Our group identified a likely pathogenic variant in KRT32 (keratin 32) that is responsible for autosomal dominant LAHS and segregating with the disorder in a large kindred. We are currently performing downstream cell biology functional assays that provide functional evidence of the pathogenicity of the identified mutation. The understanding of the pathophysiology of LAHS would provide insight into the mechanism(s) that anchor the anagen hair shaft to its follicle.

Honors and Awards

Graduate College Summer Fellowship (2023)