Division of Human Genetics News

The study team demonstrated that this platform could reveal disease-causing genetic variants and provide molecular diagnoses for previously undiagnosed patients.

KJ is celebrating a big year after becoming the first patient in the world to receive a personalized CRISPR gene editing therapy to treat his rare disease.

Children’s Hospital of Philadelphia (CHOP) announced that seven of its physicians and researchers were among the 92 new members selected to join the American Pediatric Society (APS), one of North America's first and most prestigious academic pediatric organizations.

Researchers found that a new drug therapy currently in clinical trials for a form of primary mitochondrial disease – Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome – was safe and effective in multiple preclinical zebrafish models.

Landmark study from CHOP and Penn Medicine showcases the power of customized gene editing therapy to treat patient with rare metabolic disease.

The methods help identify “footprints” that indicate binding sites and reveal variants that could increase risk for a variety of common diseases.

New techniques were utilized to recreate the goals of a natural history study of rare diseases in a fraction of the time.

MMFP-Tableau offers a readily generalizable solution to make research and clinical electronic health system data more accessible and impactful.

Researchers aim to develop personalized therapies for urea cycle disorders and other genetic conditions using advanced CRISPR technology.

Hundreds of variants in “secondary finding” genes could guide treatment for patients to avoid risks and complications of health issues in adulthood.