Published on in CHOP News
Researchers at CHOP and University of Pennsylvania developed an online tool to refine results from RNA sequencing obtained from clinically accessible tissues.
Published on in CHOP News
The consortium will collect data on psychiatric illness and genetic variants associated with an increased risk for neurodevelopmental/behavioral differences, such as those associated with the chromosome 22q11.2 deletion syndrome, with the aim of using the findings to improve patient care.
Published on in CHOP News
Roberts Individualized Medical Genetics Center Outlines Framework for Centralized Approach to Genetic and Genomic Testing
Published on in CHOP News
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.
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.