After a Decades-long Quest: Answers
Published on in Children's View
Researchers at CHOP discovered the genetic cause of two brothers’ early deaths. Now, their family seeks to further propel mitochondrial disease research with a $2 million gift.
Mitochondrial Medicine News and Updates
1 - 10 of 50
Researchers Show How Mitochondrial Function Influences Schizophrenia Status in Patients with Genetic Disorder
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
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
Published on in CHOP News
CHOP’S Mitochondrial Medicine team helped bring this book for researchers and clinicians to life.
CHOP Researchers Discover New, Aggressive Form of Mitochondrial Disease
Published on in CHOP News
CHOP Researchers Discover New, Aggressive Form of Mitochondrial Disease.
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.
Gene Behind Long-Recognized Mitochondrial Disease Has Highly Varied Effects
Published on in CHOP News
For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms.