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Tool may be more accurate than existing methods and was made possible through a cohort of tens of thousands of patients from different backgrounds around the world.
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This novel method uses fruit flies and zebra fish to validate the function behind a gene associated with sleep regulation and may be a target for studies on sleeping disorders.
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This “multimodal” analysis helps reveal relationships between different aspects of a cell and how they might impact disease development.
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Study on understudied non-chromosomal birth defects provides information critical to potential early detection of malignant tumors.
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The algorithm could lead to better clinical trials and more targeted treatment.
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CHOP researchers have integrated environmental, genetic, and imaging data to better understand which factors might be clinically relevant when it comes to psychiatric and cognitive outcomes.
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The method could eventually lead to more personalized medicine approaches as well as properly diagnose patients with multiple disorders.
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Grants play a large role in generating new knowledge that improves outcomes for children. Here, two fellows briefly discuss their research efforts fueled by grant support.
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The findings also show that some of these genetic markers are shared with autism spectrum disorder, suggesting a possible connection.
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A dozen patients have clinical features linked to the genetic variants, and preclinical models reveal more about how they affect normal function.