Published on in CHOP News
Study is first to demonstrate how one specific combinational therapy may provide measurable benefits to patients with mitochondrial respiratory chain disorders, which currently lack FDA-approved therapies.
Published on in CHOP News
New Cell Models Help Researchers Study Disease Development and Growth Issues in Beckwith-Wiedemann Syndrome
Published on in CHOP News
The discovery could lead to the development of better diagnostic methods and potentially new therapies.
Published on in CHOP News
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.
Published on in CHOP News
Integrating 3D genomics with publicly available, genome-wide genetic data, CHOP researchers uncovered genetic correlations between IBD, stress, and depression.
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.