ID
45661
Descripción
Principal Investigator: Lorenz Studer, Memorial Sloan Kettering Cancer Center, New York, NY, USA MeSH: Dysautonomia, Familial https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001233 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.
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Versiones (1)
- 23-03-23 23-03-23 - Simon Heim
Titular de derechos de autor
Lorenz Studer, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Subido en
23 maart 2023
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs001233 Disease Severity in Familial Dysautonomia
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