Parents are usually blindsided when they find out that their child has congenital hyperinsulinism (HI), a rare genetic disorder that depresses blood sugar to dangerously low levels.

CHOP was one of the first sites to assess a new form of whole genome sequencing.

Breaking Through with Madeline Bell’s “Pioneered at CHOP” series highlights stories about some of CHOP’s amazing breakthroughs, told by the people who made them.

Learn more about Children’s Hospital of Philadelphia's efforts to define the underlying genetic etiologies of CDH to better understand why CDH occurs and how it can be more effectively treated.

The Kabuki Syndrome Clinic is one of the few of its kind in the world and offers a multidisciplinary team approach to treat patients with this rare genetic condition.

Children’s Hospital of Philadelphia was named one of the 15 most innovative children’s hospitals by Parents magazine based on the results of a comprehensive survey.

Roberts Individualized Medical Genetics Center Outlines Framework for Centralized Approach to Genetic and Genomic Testing

A research collaboration that shares genetic data among pediatric hospitals has received a multi-year federal grant to scale up its network, aimed at advancing precision medicine for children.

Families from across the globe gather for a symposium about CHOPS syndrome — a rare genetic condition identified in 2015 by researchers at Children's Hospital of Philadelphia.

Aileen and Brian Roberts' commitment to Dr. Levine’s research into the genetic causes of hypoparathyroidism in children can be life changing.