Researchers Identify Three Genes Associated with Neurodevelopmental Disorders
Published on
All three genes had variants affecting splicing and resulted in symptoms like developmental delays, intellectual disability, hypotonia, seizures and autism.
Published on
All three genes had variants affecting splicing and resulted in symptoms like developmental delays, intellectual disability, hypotonia, seizures and autism.
Published on
This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.
Published on
Forty researchers met regularly over four years to determine which genes have the strongest link to the most common pediatric form of mitochondrial disease.
Published on
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.
Published on
The disorder was identified in 21 patients with neurodevelopmental and craniofacial symptoms; causal gene may be a valuable therapeutic target.
Published on
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.
Published on
While diagnostic rates were similar, challenges related to sample collection and overcoming barriers to care persist.
Published on
New test analyzes mitochondrial DNA to find and quantify certain variations and deletions, providing a useful diagnostic tool that helps guide treatment.
Published on
New research has identified several new clinical considerations and provides guidance for proper diagnosis and management of very rare disease.
Published on
Researchers have unlocked patterns to improve the diagnosis of the most common epigenetic childhood cancer disorder.