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Outcome measurements revealed information about muscle weakness and differences between pediatric and adult patients.
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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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Five-year-old “Peter” presented to Clinical Genetics following evaluations by 27 subspecialists who were unable to provide his two physician parents with a unifying diagnosis to explain his seemingly disparate constellation of findings. But Peter’s parents were relentless in attempting to resolve their son’s diagnostic odyssey.
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New findings set stage for future targeted therapies for patients with 22q11.2 deletion syndrome, who are 25 times more likely to develop schizophrenia.
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Study is first to demonstrate how one specific combinational therapy may provide measurable benefits to patients with mitochondrial respiratory chain disorders, which currently lack FDA-approved therapies.
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New Cell Models Help Researchers Study Disease Development and Growth Issues in Beckwith-Wiedemann Syndrome
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A new study involving CHOP researchers looked at genetic variants across the genome to determine risk levels for developing schizophrenia in patients with 22q11.2DS.
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Integrating 3D genomics with publicly available, genome-wide genetic data, CHOP researchers uncovered genetic correlations between IBD, stress, and depression.
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Researchers at CHOP and University of Pennsylvania developed an online tool to refine results from RNA sequencing obtained from clinically accessible tissues.
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The consortium will collect data on psychiatric illness and genetic variants associated with an increased risk for neurodevelopmental/behavioral differences, such as those associated with the chromosome 22q11.2 deletion syndrome, with the aim of using the findings to improve patient care.