Division of Human Genetics News

Our team of attending physicians, genetic counselors, nurses and dietitians work with a variety of departments at CHOP to ensure a continuity of care and individualized treatment for children with genetic conditions.

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Children’s Hospital of Philadelphia, Penn Medicine Researchers Report High-Throughput Variant Re-Classification for Alagille Syndrome Disease Gene

Jul 22, 2024

Findings will help provide more accurate diagnoses to families.

Children’s Hospital of Philadelphia Researchers Develop Antioxidant Strategy to Address Mitochondrial Dysfunction Caused by SARS-COV-2 Virus

Jul 16, 2024

Preclinical data suggests a new strategy for treating complex cases of COVID-19 independent of mutations and variants.

CHOP Researchers Develop Method for Integrating Patient-Reported Outcomes for Patients with Primary Mitochondrial Disease

Mar 28, 2024

The findings also found that older patients with primary mitochondrial disease have a lower quality of life than pediatric patients with the same disease.

CHOP Researcher Part of Team Receiving Up to $25 Million from Cancer Grand Challenges

Mar 6, 2024

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

Researchers Identify Three Genes Associated with Neurodevelopmental Disorders

Nov 28, 2023

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

CHOP Researchers Develop Novel Method Using MRI to Study Diseases Modeled in Zebrafish

Sep 20, 2023

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

CHOP Researchers Lead International Expert Panel, Curating Evidence for Over 100 Genes Causing Leigh Syndrome Spectrum

Sep 13, 2023

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

NIH Awards Penn Medicine and Children’s Hospital of Philadelphia $26 Million Grant to Develop Therapies for Rare Newborn Genetic Diseases

Aug 1, 2023

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.

Children’s Hospital of Philadelphia, Princeton Researchers Identify Novel Genetic Disorder

Apr 26, 2023

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

CHOP Researchers Implicate Multiple Causal Genes that Drive Type 2 Diabetes Risk

Sep 6, 2022

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.

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