Disease Severity in Familial Dysautonomia

Study ID Alternative Stable ID Type
phs001233 Case Set

Study Description

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 IKBKAP, 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.

Archive Link Archive Accession
dbGaP phs001233

Who archives the data?

There are no publications available