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.
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All three genes had variants affecting splicing and resulted in symptoms like developmental delays, intellectual disability, hypotonia, seizures and autism.
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The two studies, presented at ASHG 2023, identified base editing and prime editing approaches for treating the rare newborn genetic disease
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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.
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Dravet syndrome is a severe neurodevelopmental disorder defined by treatment-resistant epilepsy and features related to autism spectrum disorder.
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CHOP researchers have developed a versatile and low-cost technology for targeted sequencing of full-length RNA molecules.
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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.
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CHOP and Penn researchers have developed a proof-of-concept model for delivering gene editing tools to treat blood disorders directly within the body.
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The study captured genetic variants at extremely low levels, and dozens of patients began new therapies as a result of the findings.
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Collaboration among CHOP, Alex’s Lemonade Stand Foundation, the Pacific Pediatric Neuro-Oncology Consortium, and Children’s Brain Tumor Network paves the way for new collaborative models to accelerate discoveries.
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CHOP researchers will develop gene therapies for multiple sulfatase deficiency, a devastating lysosomal storage disorder, with the goal of first-in-human trials.