Rady Children's Institute for Genomic Medicine (RCIGM) today announced the publication of a study in Nature Communications describing and examining the performance of Genome-to-Treatment (GTRx), an automated, virtual disease ...
Jul 26, 2022
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Scientists have identified a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development.
Jun 24, 2022
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As the cost of genome and exome sequencing falls, its use in characterizing rare diseases and personalizing cancer treatment, for example, is becoming far more frequent. But such analyses may throw up findings unrelated to ...
Jun 10, 2022
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A new study from researchers at Children's Hospital of Philadelphia (CHOP) found that using telemedicine to evaluate patients with rare genetic conditions resulted in a similar rate of proper diagnosis as in-person visits. ...
Jun 1, 2022
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Cystic fibrosis is a rare genetic disease which can cause very serious symptoms. In particular, patients suffer from chronic bacterial infections that can lead to respiratory failure. It is caused by mutations in the CFTR ...
May 24, 2022
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Although some rare genetic variants can increase the risk of disease markedly for a few individuals, the genetic contribution to common diseases is mostly due to a combination of many common genetic variants with small effects. ...
May 16, 2022
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"Mr. and Mrs. Smith, we finally have an answer for you." The couple, whose real names we are protecting for privacy, looked at me anxiously. I had been evaluating their young daughter, Sally, in my role as a medical geneticist ...
Apr 20, 2022
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A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular ...
Mar 4, 2022
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Broad scientists analyzed sequencing data from more than 200,000 people and found rare genetic variants associated with diseases like diabetes and heart failure.
Feb 23, 2022
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Rare diseases constitute a major health issue in Europe: An estimated 30 million people live with one, and of these, 50% have not received a diagnosis. The suffering caused by these disorders, both to patients and the doctors ...
Feb 23, 2022
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