CHOP Researchers Develop New Strategy for Assessing Natural History of Leukodystrophies
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The methodology developed in this study could help guide clinical trial design for many rare diseases
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The methodology developed in this study could help guide clinical trial design for many rare diseases
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An experimental compound might be further developed as an effective treatment approach for affected patients.
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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.
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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).
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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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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!
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The Movement Disorders Program is one of the only programs of its kind in the country and provides life-changing results.
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Patients with this complex neurological disorder experience a wide variety of symptoms, which can be managed with early and proper diagnosis.
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STXBP1-related disorders include gastrointestional and respiratory symptoms in certain patients, according to extensive interviews with caregivers.
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A $25 million gift from an anonymous donor to Penn Medicine and Children’s Hospital of Philadelphia (CHOP) will establish the Center for Epilepsy and Neurodevelopmental Disorders (ENDD), accelerating collaborative research in genetic therapies for neurodevelopmental disorders.