With the benefit of pooled resources, the NIH-supported Undiagnosed Diseases Network has demonstrated a novel approach to identifying and diagnosing mystery diseases compared to singular institutions working alone, according ...
Oct 27, 2020
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A new software program effectively brings the expertise of Massachusetts General Hospital (MGH) specialists to many more patients with Down syndrome (DS), according to a study published today in Genetics in Medicine. Down ...
Sep 8, 2020
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A team of researchers at Children's Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) further bridged the gap between genomic information and clinical outcome data by systematically ...
Aug 11, 2020
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Most children with rare genetic diseases spend years undergoing medical tests and waiting for a diagnosis—a long, exhausting process that takes its toll on children and their families. Almost half of these children never ...
Jun 4, 2020
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The nutritional supplement has dramatically improved the lives of other children with the rare metabolic disorder.
Jun 4, 2020
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Advances in genetic and genomic testing technology have not only introduced the utilization of clinical genomic information into virtually every area of medical care, this testing has become an essential tool to achieve the ...
Jun 1, 2020
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As the debate around privacy and access to personal medical history continues, new research provides insights into the value people place on clinical genomic testing and the factors that influence its uptake.
May 6, 2020
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DNA sequencing is becoming a more commonplace method for detecting diseases and improving precision medicine. Because DNA sequencing does not detect all possible disease-causing mutations, RNA sequencing is often used to ...
Apr 8, 2020
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According to a statement on behalf of the American College of Medical Genetics and Genomics (ACMG) published Dec. 13 in the organization's official journal, Genetics in Medicine, there is insufficient evidence to recommend ...
Dec 13, 2019
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A decision aid developed to support patients undergoing genomic sequencing can reduce the amount of time patients spend speaking with overburdened genetic counselors while helping them were more knowledgeable about the benefits ...
Dec 10, 2019
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