Division of Human Genetics News

Team MATCHMAKERS will focus on the interaction between t cell receptors and cancer antigens.

All three genes had variants affecting splicing and resulted in symptoms like developmental delays, intellectual disability, hypotonia, seizures and autism.

This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.

Forty researchers met regularly over four years to determine which genes have the strongest link to the most common pediatric form of mitochondrial disease.

A Penn Medicine and CHOP team will seek to develop treatments for three rare, incurable genetic diseases with the help of a $26 million grant from the National Institutes of Health.

The disorder was identified in 21 patients with neurodevelopmental and craniofacial symptoms; causal gene may be a valuable therapeutic target.

CHOP researchers have used advanced 3D mapping techniques to identify genetic variants and corresponding target genes in the pancreas that are implicated in type 2 diabetes.

While diagnostic rates were similar, challenges related to sample collection and overcoming barriers to care persist.

New test analyzes mitochondrial DNA to find and quantify certain variations and deletions, providing a useful diagnostic tool that helps guide treatment.

Researchers have unlocked patterns to improve the diagnosis of the most common epigenetic childhood cancer disorder.