None Too Rare
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Some diseases affect only a small number of people, and yet CHOP’s commitment to researching and treating them is huge.
Division of Human Genetics News and Updates
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First Genome-wide Study of “Type 1.5 Diabetes” May Improve Diagnosis
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A large genetic study of a puzzling type of adult-onset diabetes has found new links to the two major types of diabetes, offering insights into better diagnosis and treatment.
Changes in Mitochondrial DNA Control Severity of Heart Disease
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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.
mvTool — A New, One-stop Resource for Clinicians and Researchers
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Clinicians and researchers in mitochondrial disease now can access a new, one-stop bioinformatics tool that collects annotated data on mitochondrial DNA (mtDNA) variants.
What Would Help or Hinder Patients Joining Clinical Trials for Mitochondrial Disease?
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As clinical trials aim to attain the first FDA-approved treatments for mitochondrial disease, a study reports patient and family preferences.
Mitochondrial Medicine Team Participates in Annual Research Affinity Group Retreat
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Participants discussed advancements in the mitochondrial medicine field, attended seminars, participated in team-building activities, and created further collaborative opportunities.
Three Extraordinary Programs Are Envisioning the Breakthroughs of Tomorrow
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Three Frontier Programs (NeoCLD Program, Mitochondrial Medicine, and Pediatric Airway Disorders) have made world-changing discoveries, delivered lifesaving therapies, and provided exceptional care.
In Lab Tests, Antioxidants Show Promise in Treating Mitochondrial Disease
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Systematic laboratory studies find some antioxidants should be tested in clinical trials as treatments for patients with mitochondrial disease.
Intravenous Arginine Benefits Children after Acute Metabolic Strokes
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Children with mitochondrial diseases who suffered acute metabolic strokes benefited from rapid IV treatment with the amino acid arginine, with no side effects.
Making Ben — and Janssen — Proud
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Douglas Wallace, PhD, is considered the founder of mitochondrial genetics. His groundbreaking research at CHOP earned him two prestigious international awards in 2017.