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Children’s Hospital of Philadelphia Researchers Use AI-Powered Method to Identify Genetic Epilepsies Much Earlier than Current Genetic Diagnosis
New method, bolstered by a study of 89 million points of data, could help patients receive precision care months or years earlier
Children’s Hospital of Philadelphia Researchers Find Some Patients with Aicardi Goutières Syndrome Have Normal IQ
While unable to speak, patients can understand parents and caregivers, paving the way for future clinical trial design
Researchers Develop New Tool for Better Classification of Inherited Disease-Causing Variants
Tool is freely available for researchers and conforms to evolving research guidelines
CHOP Researchers Develop New Strategy for Assessing Natural History of Leukodystrophies
The methodology developed in this study could help guide clinical trial design for many rare diseases
CHOP Researchers Use Human Stem Cells to Model a Severe Epilepsy Syndrome and Identify a Potential Targeted Treatment
An experimental compound might be further developed as an effective treatment approach for affected patients.
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.
FDA Approves First Gene Therapy for Duchenne Muscular Dystrophy
For decades, doctors and researchers have been working diligently to discover new treatments and provide more options for patients with Duchenne muscular dystrophy (DMD), a debilitating genetic disease that ravages the muscles in the body and leads to a loss of movement and coordination.
Interdisciplinary Fetal/Neuro Approach to ACC
Agenesis of the corpus callosum (ACC) is one of the most common referrals seen in the prenatal period at the Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment (CFDT) at Children’s Hospital of Philadelphia (CHOP).
The Runway Fashion & Trunk Show Raises More Than $845,000 for CHOP’s Neuroscience Center
Children’s Hospital of Philadelphia hosted The Runway, presented by the Jacovini Family, a contemporary lunchtime fashion show at the Mann Center curated by top Philadelphia-area boutiques and designers with proceeds benefitting CHOP’s Neuroscience Center. This year, more than $845,000 was raised!
Teamwork Makes the Dream Work
The Movement Disorders Program is one of the only programs of its kind in the country and provides life-changing results.