CHOP Researchers Discover New, Aggressive Form of Mitochondrial Disease
Published on in CHOP News
CHOP Researchers Discover New, Aggressive Form of Mitochondrial Disease.
Mitochondrial Medicine News and Updates
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Doug Wallace Honored with 2019 Charles L. Hoppel Prize for Outstanding Contributions in Mitochondrial Research
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.
Genetic Testing 101: What Parents Need to Know
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.
Existing Drug May Have Potential to Treat Mitochondrial Disease
Published on in CHOP News
New results in cell and animal studies suggest that a drug already used for a rare kidney disease could benefit patients with mitochondrial disorders.
Sideroblastic Anemia Is a Red-flag Sign of Single Large-scale Mitochondrial DNA Deletion Syndrome
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.
The Case for Performing Percutaneous Muscle Biopsy
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.
The Multipronged Mission of CHOP’s Mitochondrial Medicine Frontier Program
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.
Genetic Counselor’s Corner: The Value of an Accurate Genetic Diagnosis
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.
Newly Established Fellowship Will Train Doctors on Mitochondrial Disease
Published on in CHOP News
Newly established fellowship will provide specialized training to new doctors on mitochondrial disease.
Ashkenazi Jewish Founder Mutation Identified in Leigh Syndrome
Published on in CHOP News
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.