Researchers Identify Three Genes Associated with Neurodevelopmental Disorders
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All three genes had variants affecting splicing and resulted in symptoms like developmental delays, intellectual disability, hypotonia, seizures and autism.
Center for Applied Genomics News and Updates
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CHOP Researchers Develop Tool for Helping Predict Alzheimer’s Risk in Various Ethnic Populations
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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.
CHOP, Penn and Texas A&M Use Novel Method to Identify Important Genetic Regulator of Sleep
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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.
CHOP and NJIT Researchers Develop New Tool for Studying Multiple Characteristics of a Single Cell
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This “multimodal” analysis helps reveal relationships between different aspects of a cell and how they might impact disease development.
CHOP Researchers Identify Potential Genetic Variants Linked to Increased Cancer Risk in Children with Birth Defects
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Study on understudied non-chromosomal birth defects provides information critical to potential early detection of malignant tumors.
CHOP Researchers Develop Algorithm to Help Distinguish ADHD Symptoms from Related Conditions
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The algorithm could lead to better clinical trials and more targeted treatment.
CHOP Study Aims to Reveal How Genetics, Environment Contribute to Psychiatric and Cognitive Outcomes
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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.
CHOP Researchers Use Deep Learning to Find Genetic Causes of Mental Health Disorders in Frequently Understudied African American Population
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The method could eventually lead to more personalized medicine approaches as well as properly diagnose patients with multiple disorders.
Fellows Corner: How Do Grants Impact Your Work?
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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.
CHOP Researchers Find New Genetic Markers for Rarer Form of Type 1 Diabetes
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The findings also show that some of these genetic markers are shared with autism spectrum disorder, suggesting a possible connection.