CHOP and Penn were honored for outstanding, long-standing, exemplary and unwavering commitment and contributions to the chromosome 22q11.2 community since 1992.

Decades after two brothers died from a mitochondrial disease, scientists identified the causative gene mutation and say the mutation should be added to carrier screening programs.

Some diseases affect only a small number of people, and yet CHOP’s commitment to researching and treating them is huge.

A large genetic study of a puzzling type of adult-onset diabetes has found new links to the two major types of diabetes, offering insights into better diagnosis and treatment.

A new study found that otherwise mild changes in the DNA in mitochondria combine with familiar nuclear DNA to dramatically affect heart disease in animals.

Participants discussed advancements in the mitochondrial medicine field, attended seminars, participated in team-building activities, and created further collaborative opportunities.

As clinical trials aim to attain the first FDA-approved treatments for mitochondrial disease, a study reports patient and family preferences.

Three Frontier Programs (NeoCLD Program, Mitochondrial Medicine, and Pediatric Airway Disorders) have made world-changing discoveries, delivered lifesaving therapies, and provided exceptional care.

Systematic laboratory studies find some antioxidants should be tested in clinical trials as treatments for patients with mitochondrial disease.

Children with mitochondrial diseases who suffered acute metabolic strokes benefited from rapid IV treatment with the amino acid arginine, with no side effects.