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.

A novel treatment saves the life of a 10-year-old who was transferred to CHOP after sudden onset of shortness of breath and severe swelling in his lower body.

Researchers from CHOP repurpose a drug to reshape anatomy and bring dramatic clinical improvement to a patient with a rare lymphatic disorder.

Find out how a bold idea led to an astonishing cure for a certain childhood blindness, and learn about the future of gene therapy to treat children, like Hannah.

CHOP researchers use novel tool to mine clinical data and identify causative gene in severe childhood epilepsy.

If your child has symptoms of an inherited condition or one that might be caused by a spontaneous gene mutation, your doctor may recommend genetic testing. Here's what you need to know.

Dr. Cunningham writes about when and why should a muscle biopsy be considered in the evaluation of mitochondrial disease, and how to obtain a muscle biopsy.

Using the case of a 24-month-old African-American boy, Drs. Ganetzky and Goldstein discuss sideroblastic anemia and how it might be an indicator for multisystem mitochondrial disease.

Dozens of CHOP clinicians and researchers updated scientific knowledge of chromosome 22q11.2 deletion syndrome in a special issue of a genetics journal.

Erica Schindewolf, a genetic counselor in the CFDT, weighs in on what patients should know about genetic screening tests during pregnancy.