In an article published in Nature Genetics, researchers confirm that about 14% of all cases of cerebral palsy, a disabling brain disorder for which there are no cures, may be linked to a patient's genes and suggest that many ...
Sep 28, 2020
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People with pale colored melanomas are more likely to have a gene mutation associated with albinism, University of Queensland research has found.
Sep 23, 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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Huntington's disease (HD) is a rare disease characterized by abnormal chorea movement and caused by the Huntingtin (Htt) gene mutation and neurodegeneration in a brain area called the striatum. A research group led by Dr. ...
Feb 28, 2020
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(HealthDay)—Teenage actor Gaten Matarazzo III was born with a rare genetic disorder that affects bone development. And ever since his Netflix series "Stranger Things" became a hit, public interest in the condition has shot ...
Feb 20, 2020
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The causes of rare diseases could be uncovered using an approach created to identify genetic mutations that trigger a muscle-wasting condition, a study suggests.
Dec 18, 2019
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An international research collaboration led by researchers from the Universities of Helsinki and Oxford has identified the biological mechanism through which a genetic variant protects against type 2 diabetes.
Nov 4, 2019
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The region of DNA associated with Huntington's disease has been shown to grow throughout life and contribute towards disease progression.
Oct 10, 2019
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Neurodevelopmental disorders arising from rare genetic mutations can cause atypical cognitive function, intellectual disability, and developmental delays, yet it is unclear why and how this happens. Scientists suspected a ...
Jul 30, 2019
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In a world first, researchers from The Australian National University (ANU) have shown previously ignored rare genetic mutations are a major cause of lupus.
May 17, 2019
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