Mitochondrial Medicine Program News

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Researchers Show How Mitochondrial Function Influences Schizophrenia Status in Patients with Genetic Disorder

May 19, 2021

New findings set stage for future targeted therapies for patients with 22q11.2 deletion syndrome, who are 25 times more likely to develop schizophrenia.

CHOP Researchers Find Effective Combination of Therapies for Managing Mitochondrial Disease

Mar 2, 2021

Study is first to demonstrate how one specific combinational therapy may provide measurable benefits to patients with mitochondrial respiratory chain disorders, which currently lack FDA-approved therapies.

CHOP Researchers Demonstrate How Defects in Mitochondria May Lead to Autism Spectrum Disorder

Feb 1, 2021

Early research shows how mild defects in the “batteries” of cells in brain tissue can lead to behaviors similar to those of autism.

International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA

Oct 6, 2020

Improved and standardized variant curation guidelines will improve diagnostic accuracy for patients with mitochondrial disease evaluation.

First-of-its-Kind, All-in-One Resource for Genetics of Mitochondrial Disease Released

Jun 12, 2020

CHOP’S Mitochondrial Medicine team helped bring this book for researchers and clinicians to life.

CHOP Researchers Discover New, Aggressive Form of Mitochondrial Disease

Nov 7, 2019

CHOP Researchers Discover New, Aggressive Form of Mitochondrial Disease.

Genetic Testing 101: What Parents Need to Know

Apr 23, 2019

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

Feb 26, 2019

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 Case for Performing Percutaneous Muscle Biopsy

Feb 21, 2019

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.

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