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.

Rapid diagnosis in the neonatal and cardiac intensive care units (NICU, CICU) is essential  to provide care and treatment to critically ill infants.

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

The two studies, presented at ASHG 2023, identified base editing and prime editing approaches for treating the rare newborn genetic disease

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

Dravet syndrome is a severe neurodevelopmental disorder defined by treatment-resistant epilepsy and features related to autism spectrum disorder.

CHOP researchers have developed a versatile and low-cost technology for targeted sequencing of full-length RNA molecules.

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.

CHOP and Penn researchers have developed a proof-of-concept model for delivering gene editing tools to treat blood disorders directly within the body.

The study captured genetic variants at extremely low levels, and dozens of patients began new therapies as a result of the findings.