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Children’s Hospital of Philadelphia Researchers Announce New AI Model for Cell Segmentation and Classification
Researchers at Children’s Hospital of Philadelphia (CHOP) announced the creation of a new AI technology called CelloType, a comprehensive model designed to more accurately identify and classify cells in high-content tissue images. The findings were published today in the journal Nature Methods.
Expanding Access to Omics-enabled Care in the CHOP ICUs
Rapid diagnosis in the neonatal and cardiac intensive care units (NICU, CICU) is essential to provide care and treatment to critically ill infants.
Researchers Identify Three Genes Associated with Neurodevelopmental Disorders
All three genes had variants affecting splicing and resulted in symptoms like developmental delays, intellectual disability, hypotonia, seizures and autism.
CHOP, Penn researchers develop gene editing approaches for PKU treatment
The two studies, presented at ASHG 2023, identified base editing and prime editing approaches for treating the rare newborn genetic disease
CHOP Researchers Lead International Expert Panel, Curating Evidence for Over 100 Genes Causing Leigh Syndrome Spectrum
Forty researchers met regularly over four years to determine which genes have the strongest link to the most common pediatric form of mitochondrial disease.
CHOP Researchers Show Epilepsy and Autism Symptoms in Dravet Syndrome May Be Caused by Separate Mechanisms
Dravet syndrome is a severe neurodevelopmental disorder defined by treatment-resistant epilepsy and features related to autism spectrum disorder.
CHOP Researchers Develop Versatile and Low-Cost Technology for Targeted Long-read RNA Sequencing
CHOP researchers have developed a versatile and low-cost technology for targeted sequencing of full-length RNA molecules.
NIH Awards Penn Medicine and Children’s Hospital of Philadelphia $26 Million Grant to Develop Therapies for Rare Newborn Genetic Diseases
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.
Researchers Develop “In Vivo” Gene Editing Model for Blood Disorders
CHOP and Penn researchers have developed a proof-of-concept model for delivering gene editing tools to treat blood disorders directly within the body.
CHOP Researchers Use “Deep Sequencing” to Identify Several Previously Undescribed Genetic Variants in Vascular Anomalies
The study captured genetic variants at extremely low levels, and dozens of patients began new therapies as a result of the findings.