CHOP Researchers Use Novel Tool to Mine Clinical Data and Identify Causative Gene in Severe Childhood Epilepsy
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CHOP researchers use novel tool to mine clinical data and identify causative gene in severe childhood epilepsy.
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CHOP researchers use novel tool to mine clinical data and identify causative gene in severe childhood epilepsy.
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If your child has symptoms of an inherited condition or one that might be caused by a spontaneous gene mutation, your doctor may recommend genetic testing. Here's what you need to know.
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Using the case of a 24-month-old African-American boy, Drs. Ganetzky and Goldstein discuss sideroblastic anemia and how it might be an indicator for multisystem mitochondrial disease.
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Dr. Cunningham writes about when and why should a muscle biopsy be considered in the evaluation of mitochondrial disease, and how to obtain a muscle biopsy.
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Dr. Marni Falk provides an overview of the field of mitochondrial medicine and the role of CHOP's Mitochondrial Medicine Frontier Program in advancing research and care.
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The case of a 5-year-old patient is used to explain the importance of obtaining an accurate genetic diagnosis for mitochondrial diseases, properly explaining the testing process to families, and providing counseling.
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Dozens of CHOP clinicians and researchers updated scientific knowledge of chromosome 22q11.2 deletion syndrome in a special issue of a genetics journal.
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Erica Schindewolf, a genetic counselor in the CFDT, weighs in on what patients should know about genetic screening tests during pregnancy.
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CHOP and Penn were honored for outstanding, long-standing, exemplary and unwavering commitment and contributions to the chromosome 22q11.2 community since 1992.
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Decades after two brothers died from a mitochondrial disease, scientists identified the causative gene mutation and say the mutation should be added to carrier screening programs.