For the first time, scientists have cleanly corrected a human gene mutation in a patient's stem cells. The result, reported in Nature on Wednesday 12 October, brings the possibility of patient-specific therapies closer to ...
Oct 12, 2011
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Over the past decade, new technologies have revealed that autism spectrum disorder has a substantial genetic component. But determining exactly which genes are involved has been like finding the proverbial needle in the haystack.
Oct 5, 2011
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A Ben-Gurion University of the Negev research group led by Prof. Ohad Birk has identified a gene whose defect specifically causes myopia or nearsightedness.
Sep 1, 2011
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The loss of a protein that coats sperm may explain a significant proportion of infertility in men worldwide, according to a study by an international team of researchers led by UC Davis. The research could open up new ways ...
Jul 20, 2011
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A new study involving Canada's Centre for Addiction and Mental Health (CAMH) has found a gene connected with a type of intellectual disability called Joubert syndrome.
May 12, 2011
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Researchers have presented the latest findings from a clinical trial aimed at discovering a cure for sickle cell disease, a painful genetic blood disorder with limited treatment options.
Jun 15, 2024
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When neurobiologist David Corey showed up at a rare disease conference in 2017, he had no idea that he would enter a race against time to develop a treatment for it.
Oct 19, 2023
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Scientists have discovered that the cells of early human embryos are often unable to repair damage to their DNA. The researchers say that this has important implications for the proposed use of gene editing techniques to ...
Jun 26, 2023
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Rare diseases are often caused by defects in genetic material. If children inherit a defective gene from only one parent, they often are asymptomatic "carriers"—or at least that was the previous assumption. However, a research ...
May 23, 2023
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Scientists at the University of Liverpool have figured out how mutations in a gene called FBXL4 can lead to an excess of mitophagy—the disposal of mitochondria, the 'power stations' within nearly all human cells.
May 4, 2023
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