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

Using genetic sequencing and targeted treatment, CHOP researchers resolved a severe lymphatic disorder in a young woman with KLA, a complex and rare disorder.

When severe and hard-to-diagnose coughing fits struck a 47-year-old cardiac patient, CHOP’s Lymphatic team had the answers — and treatment — she needed. 

2020 pandemic and subsequent revisions to state licensing procedures underscore how widespread adoption could keep drivers safe in challenging times while also improving evaluation.

Physicians and healthcare professionals attended a virtual conference on Personalized IBD and VEO-IBD: Genomics, Microbiome, Biologics and Beyond.

CHOP collaboration with Nestlé Health Science elevates an idea that is a win for families.

Children’s Hospital of Philadelphia is honored as a 2020 National Organization on Disability (NOD) Leading Disability Employer at the organization’s Annual Forum, entitled “ADA at 30: What’s Next.”

CHOP’s Healthier Together Initiative, which addresses the social determinants of health, will support CLS to provide legal representation to families as Philadelphia’s temporary ban on evictions is set to expire, and the national moratorium on evictions issued by the Centers for Disease Control and Prevention covers only a fraction of Philadelphia renters.

Have a child with Down syndrome who hates wearing a mask? Experts at CHOP say repeated exposure and positive reinforcement can build compliance.

CHOP and 38 other health systems in 45 states and Washington, DC have committed to addressing racism and the public health disparities caused by racism.