Mitochondrial Medicine News and Updates

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Genetic Testing 101: What Parents Need to Know

Published on Apr 23, 2019 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 Feb 26, 2019 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.

The Multipronged Mission of CHOP’s Mitochondrial Medicine Frontier Program

Published on Feb 21, 2019 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.

Sideroblastic Anemia Is a Red-flag Sign of Single Large-scale Mitochondrial DNA Deletion Syndrome

Published on Feb 21, 2019 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 Feb 21, 2019 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.

Genetic Counselor’s Corner: The Value of an Accurate Genetic Diagnosis

Published on Feb 13, 2019 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 Jan 23, 2019 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 Nov 15, 2018 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.

6ABC Highlights Upcoming Fundraiser Benefitting Mitochondrial Medicine

Published on Oct 04, 2018 in CHOP News

6ABC shows how one family is making a difference for mitochondrial medicine at Children's Hospital of Philadelphia.

Changes in Mitochondrial DNA Control Severity of Heart Disease

Published on Sep 11, 2018 in CHOP News

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.

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Mitochondrial Medicine News and Updates

1 - 10 of 41

Genetic Testing 101: What Parents Need to Know

Existing Drug May Have Potential to Treat Mitochondrial Disease

The Multipronged Mission of CHOP’s Mitochondrial Medicine Frontier Program

Sideroblastic Anemia Is a Red-flag Sign of Single Large-scale Mitochondrial DNA Deletion Syndrome

The Case for Performing Percutaneous Muscle Biopsy

Genetic Counselor’s Corner: The Value of an Accurate Genetic Diagnosis

Newly Established Fellowship Will Train Doctors on Mitochondrial Disease

Ashkenazi Jewish Founder Mutation Identified in Leigh Syndrome

6ABC Highlights Upcoming Fundraiser Benefitting Mitochondrial Medicine

Changes in Mitochondrial DNA Control Severity of Heart Disease

1 - 10 of 41

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