Boricua Mutation | CHOP Research Institute
 

Boricua Mutation

Published on
Oct 1, 2021
This week’s roundup features new partnerships, novel findings, and exciting approaches to diagnosing rare conditions.

Dr. Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. Her clinical work focuses on finding a unifying genetic diagnosis for children with rare neurodevelopmental disorders. Her research is informed by her patients and focuses on understanding how genetic changes, in particular those affecting mitochondrial function, cause disease so we can develop better treatments for these children in the future.