Division of Human Genetics News

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.

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.