Published on in CHOP News
The disorder was identified in 21 patients with neurodevelopmental and craniofacial symptoms; causal gene may be a valuable therapeutic target.
Published on in CHOP News
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 in CHOP News
While diagnostic rates were similar, challenges related to sample collection and overcoming barriers to care persist.
Published on in CHOP News
She was selected as the 2022 recipient of the ACMG Foundation for Genetic and Genomic Medicine's David L. Rimoin Lifetime Achievement Award in Medical Genetics.
Published on in CHOP News
New test analyzes mitochondrial DNA to find and quantify certain variations and deletions, providing a useful diagnostic tool that helps guide treatment.
Published on in CHOP News
New research has identified several new clinical considerations and provides guidance for proper diagnosis and management of very rare disease.
Published on in CHOP News
Researchers have unlocked patterns to improve the diagnosis of the most common epigenetic childhood cancer disorder.
Published on in Children's Doctor
James is a 3-year-old male with developmental delay and rapid weight gain/obesity. Prenatal history was unremarkable. His birth weight was 50th percentile and length was 90th percentile at birth. Soon after birth, he started showing feeding difficulties, poor suck/coordination, and aspiration.
Published on in Children's Doctor
Jaden was a 4-year-old who presented to his PCP’s office with a persistent cough following an upper respiratory infection. Parents reported Jaden also had easy bruising, a symptom they had also noted after he had started walking.
Published on in CHOP News
Stem cells help researchers create more complete genomic picture of difficult-to-study part of the brain involved in many key functions.