New Cell Models Help Researchers Study Disease Development and Growth Issues in Beckwith-Wiedemann Syndrome

A new study involving CHOP researchers looked at genetic variants across the genome to determine risk levels for developing schizophrenia in patients with 22q11.2DS.

Integrating 3D genomics with publicly available, genome-wide genetic data, CHOP researchers uncovered genetic correlations between IBD, stress, and depression.

Researchers at CHOP and University of Pennsylvania developed an online tool to refine results from RNA sequencing obtained from clinically accessible tissues.

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.

Roberts Individualized Medical Genetics Center Outlines Framework for Centralized Approach to Genetic and Genomic Testing

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.

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children.

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.

In finding cellular origins of a severe childhood disorder causing seizures, intellectual disability and autistic-like symptoms, new research suggests potential therapies.