Published on in CHOP News
The international prize is given each year to a scientist who has demonstrated outstanding achievement in research in the broad field of mitochondrial biology.
Published on in CHOP News
The Congenital Disorders of Glycosylation (CDG) Clinic at Children's Hospital of Philadelphia (CHOP) celebrated World Congenital Disorders of Glycosylation (CDG) Day.
Published on in CHOP News
CHOP researchers use novel tool to mine clinical data and identify causative gene in severe childhood epilepsy.
Published on in Health Tip of the Week
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.
Published on in Children's Doctor
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.
Published on in Children's Doctor
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.
Published on in Children's Doctor
Dr. Marni Falk provides an overview of the field of mitochondrial medicine and the role of CHOP's Mitochondrial Medicine Frontier Program in advancing research and care.
Published on in Children's Doctor
The case of a 5-year-old patient is used to explain the importance of obtaining an accurate genetic diagnosis for mitochondrial diseases, properly explaining the testing process to families, and providing counseling.
Published on in CHOP News
Dozens of CHOP clinicians and researchers updated scientific knowledge of chromosome 22q11.2 deletion syndrome in a special issue of a genetics journal.
Published on in CHOP News
The newly established Master of Science Genetic Counseling Program will further strengthen CHOP's resources.