Published on in CHOP News
Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children.
Published on in CHOP News
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.
Published on in CHOP News
In finding cellular origins of a severe childhood disorder causing seizures, intellectual disability and autistic-like symptoms, new research suggests potential therapies.
Published on in CHOP News
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.
Published on in CHOP News
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.
Published on in Children's View
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.
Published on in CHOP News
Researchers from CHOP repurpose a drug to reshape anatomy and bring dramatic clinical improvement to a patient with a rare lymphatic disorder.
Published on in CHOP News
Daniel E. McGinn won the award for his presentation about lower IQ scores in children of parents with the chromosome 22q11.2 deletion.
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.
Published on in CHOP News
The Congenital Disorders of Glycosylation (CDG) Clinic at Children's Hospital of Philadelphia (CHOP) celebrated World Congenital Disorders of Glycosylation (CDG) Day.