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Roberts Individualized Medical Genetics Center Outlines Framework for Centralized Approach to Genetic and Genomic Testing
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A research collaboration that shares genetic data among pediatric hospitals has received a multi-year federal grant to scale up its network, aimed at advancing precision medicine for children.
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Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children.
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A CHOP scientist co-led the largest-ever genetic study of childhood obesity. The team found that genetic influences act across the lifespan in multiple ethnicities.
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In finding cellular origins of a severe childhood disorder causing seizures, intellectual disability and autistic-like symptoms, new research suggests potential therapies.
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Families from across the globe gather for a symposium about CHOPS syndrome — a rare genetic condition identified in 2015 by researchers at Children's Hospital of Philadelphia.
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A novel treatment saves the life of a 10-year-old who was transferred to CHOP after sudden onset of shortness of breath and severe swelling in his lower body.
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Find out how a bold idea led to an astonishing cure for a certain childhood blindness, and learn about the future of gene therapy to treat children, like Hannah.
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Researchers from CHOP repurpose a drug to reshape anatomy and bring dramatic clinical improvement to a patient with a rare lymphatic disorder.
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The Congenital Disorders of Glycosylation (CDG) Clinic at Children's Hospital of Philadelphia (CHOP) celebrated World Congenital Disorders of Glycosylation (CDG) Day.