Monogenic Disease

Researchers will study the mechanisms behind novel pediatric neurodegenerative disorders and assess their role in adult-onset conditions.

William Peranteau, MD, receives NIH grant to study in utero gene editing treatment for congenital monogenic disorders.

Marcella Devoto, PhD; Judith Kelsen, MD; and colleagues are using technologies like whole exome sequencing to uncover the genetic basis of very early onset inflammatory bowel disease.