Researchers Identify Three Genes Associated with Neurodevelopmental Disorders
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All three genes had variants affecting splicing and resulted in symptoms like developmental delays, intellectual disability, hypotonia, seizures and autism.
Division of Human Genetics News and Updates
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CHOP Researchers Develop Novel Method Using MRI to Study Diseases Modeled in Zebrafish
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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
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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
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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
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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
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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.
CHOP Researchers Assess Effectiveness of Telemedicine for Pediatric Patients with Genetic Conditions
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While diagnostic rates were similar, challenges related to sample collection and overcoming barriers to care persist.
CHOP Researchers Develop New Clinical Diagnostic Test to Identify Genetic Sources of Mitochondrial Disease
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New test analyzes mitochondrial DNA to find and quantify certain variations and deletions, providing a useful diagnostic tool that helps guide treatment.
CHOP Researchers Publish Most Comprehensive Clinical Description of WAGR Syndrome to Date
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New research has identified several new clinical considerations and provides guidance for proper diagnosis and management of very rare disease.
CHOP Researchers Find Possible Increased Tumor Risk in Some Patients with Beckwith-Wiedemann Spectrum
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Researchers have unlocked patterns to improve the diagnosis of the most common epigenetic childhood cancer disorder.