NYSCF Innovators Use Stem Cells to Investigate Familial Dysautonomia

NYSCF – Druckenmiller Fellow Alumnus Dr. Fabien Lafaille, The Rockefeller University, and NYSCF – Druckenmiller Fellow Alumnus and NYSCF – Robertson Stem Cell Investigator Alumnus Dr. Gabsang Lee, Johns Hopkins University School of Medicine, authored a paper discussing the use of induced pluripotent stem cells to explore why patients with familial dysautonomia exhibit differing disease severities despite identical genetic mutations.

Published in Nature Medicine, the scientists created induced pluripotent stem cells from patient skin samples, and then turned these stem cells into the neurons affected by the disease. While the genetic mutations were identical amongst different patients, the derived neurons exhibited differences in survival and specification.

This study demonstrates that induced pluripotent stem cell disease modeling accurately captures the differences in disease severity, presenting an important step towards personalized medicine.

Read the paper in Nature Medicine