Researchers Discover New Genetic Variants Responsible for Neurodevelopmental Disorders
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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.
Center for Applied Genomics News and Updates
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CHOP Researchers Find Supplement Prevents Strokes in Patients with Rare Genetic Disorder
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Supplement proved effective at preventing the formation of amyloid proteins, which may lead to treatments for certain forms of dementia.
CHOP Researchers Reverse Severe Lymphatic Disorder in Patient with Noonan Syndrome by Targeting Genetic Pathway
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Researchers at CHOP have resolved a severe lymphatic disorder in a girl with Noonan Syndrome that had led to upper gastrointestinal bleeding, fluid collection around the lungs, and numerous surgeries that had been unable to resolve her symptoms.
ADHD Study Reveals Unique Genetic Differences in African American Patients with the Condition
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Using genome sequencing technology, researchers found potential causal mutations differ between ancestral groups, which may impact treatment.
Algorithm Created By “Deep Learning” Identifies Potential Therapeutic Targets Throughout Genome
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Researchers from NJIT and CHOP identified sites of methylation that could not be found with existing sequencing methods.
Researchers Reveal Important Genetic Mechanism Behind Inflammatory Bowel Disease
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The genetic mutation shares a link with the JAK2 pathway, an important target of multiple immunotherapies.
Scientists Develop New Algorithm that Can Better Detect Disease-Causing Genetic Variants
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Scientists at Children’s Hospital of Philadelphia have developed a new open-source algorithm that can detect with high sensitivity disease-causing structural variants in the genome.
Philadelphia Inquirer and STAT News Highlight Novel Precision Medicine Treatment
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A novel treatment saves the life of a 10-year-old who was transferred to CHOP after sudden onset of shortness of breath and severe swelling in his lower body.
CHOP Scientists Aid Largest-ever Analysis of Genetics and Birth Weight
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CHOP scientists took part in the largest known study to focus on how genes from both mothers and babies affect a child’s birth weight. Improving newborn birth weights may yield lifelong health benefits.
New Computational Tool Harnesses Big Data and Deep Learning to Illuminate Dark Matter of the Transcriptome
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CHOP computational scientists offer a novel method to detect different ways RNA is pieced together when copied from DNA. The tool may help advance disease treatments.