Using induced pluripotent stem cells produced from the skin of a patient with a rare, genetic form of insulin-dependent diabetes called Wolfram syndrome, researchers transformed the human stem cells into insulin-producing ...
Apr 22, 2020
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203
Researchers at the National Institutes of Health have discovered in mice what they believe is the first known genetic mutation to improve cognitive flexibility—the ability to adapt to changing situations.
Mar 27, 2020
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395
Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, the Clinical Genome Resource's (ClinGen) expert panel has critically ...
Jan 27, 2020
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A genetic link has now been found for some instances of Sudden Infant Death Syndrome, or SIDS. The new UW Medicine research study is the first to make an explainable link tracking the mechanism between a genetic anomaly and ...
Oct 11, 2019
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As medical science links certain genetic mutations with a greater variety of cancers, the names for these risk syndromes are falling out of step.
Jul 4, 2019
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For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.
Nov 16, 2018
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For children born with Saul-Wilson syndrome, and their parents, much of their lives are spent searching for answers. First defined in 1990, only 14 cases are known worldwide. And the cause of the syndrome—characterized ...
Oct 4, 2018
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The seizures typically begin in the first months of life. It often takes years, however, before those suffering from the rare glucose transporter type 1 (Glut1) deficiency syndrome obtain a correct diagnosis. If the disorder ...
Sep 6, 2018
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30
Scientists have wondered whether somatic (non-inherited) mutations play a role in aging and brain degeneration, but until recently there was no good technology to test this idea. A study published online today in Science, ...
Dec 7, 2017
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A new study into the genetics underlying restless legs syndrome has identified 13 previously-unknown genetic risk variants, while helping inform potential new treatment options for the condition.
Oct 13, 2017
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