<p>Familial Dysautonomia (FD) is a developmental and degenerative genetic disease that manifests in the neural crest cells and peripheral nervous system (PNS). Despite all FD patients having the same mutation in <i>IKBKAP</i>, patients present with varying disease severity, ranging from mild to severe. We used the human pluripotent stem cell technology to recapitulate this varying disease severity in the dish. Further, we found that severe, but not mild patients harbor mutations in candidate modifier genes that may contribute to severe disease presentation.</p>

Disease Severity in Familial Dysautonomia

1 selected publication including "Capturing the biology of disease severity in a PSC-based model of fami..." (61 citations)

Disease Severity in Familial Dysautonomia

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia