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More than 250 experts gathered in Philadelphia and virtually to discuss the latest scientific advancements and breakthroughs in pediatric precision medicine oncology.
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CHOP researchers have found that NTRK fusions are more common than expected in pediatric tumors, which could lead to better screening and treatment.
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CHOP researchers report that including parental testing in clinical genetic tests improves diagnosis to help guide treatment for pediatric epilepsy.
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CHOP researchers were profiled in a special technology feature for Nature about the field of DNA and whole-genome sequencing.
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A CHOP scientist advocates providing automated updates to clinical genetics tests to account for new knowledge that may benefit patients and families.
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The $50 million Roberts Collaborative will position CHOP at the forefront of pediatric genetics research and will take a multidisciplinary approach toward diagnostics, clinical management, consulting, therapeutics and research driven by the power of genetics.
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The Division of Genomic Diagnostics at Children’s Hospital of Philadelphia has launched AUDIOME, a comprehensive genetic test for the diagnosis of nonsyndromic hearing loss in children (NSHL).
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CHOP experts contributed to the Resilience Project—detecting people who are protected from their own gene mutations that usually cause severe childhood diseases.
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The Division of Genomic Diagnostics at CHOP has launched a series of hereditary and somatic cancer gene panels to facilitate a precision medicine approach to cancer diagnostics.
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The Division of Genomic Diagnostics is excited to welcome Marilyn M. Li, MD, to The Children's Hospital of Philadelphia.