In a large-scale study published in Cell Genomics, researchers studied the DNA of more than 160,000 people who provided information on the frequency of their bowel movements. Genetic profiles and specific genes were identified, ...
Dec 8, 2021
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Gene therapy might soon offer a new option for children with a rare genetic disorder that damages tissues throughout the body, researchers are reporting.
Nov 18, 2021
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Using data generated from patients and mice with genetic mutation for the disorder Usher syndrome, researchers from the University of Maryland School of Medicine (UMSOM), the National Institutes of Health's National Eye Institute ...
Nov 9, 2021
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An international study of more than 50,000 people with irritable bowel syndrome (IBS) has revealed that IBS symptoms may be caused by the same biological processes as conditions such as anxiety. The research highlights the ...
Nov 8, 2021
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A Brunel University London professor has joined the illustrious pantheon of Hans Asperger and John Langdon Down by having a syndrome named after her.
Sep 28, 2021
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Children with Down syndrome have a lower chance of survival from a particular high-risk form of leukemia (ALL) than children without the disability, new research shows. Researcher Naomi Michels in the Den Boer group: "We ...
Sep 22, 2021
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Researchers at the RIKEN Cluster for Pioneering Research (CPR) in Japan report that Kleefstra syndrome, a genetic disorder that leads to intellectual disability, can be reversed after birth in a mouse model of the disease. ...
Sep 21, 2021
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With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a specialist in seconds, ...
Sep 1, 2021
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The cost of raising a child with a rare genetic disorder was significant but the economic burden could be reduced by earlier diagnosis and targeted treatment, a new study has found.
Aug 26, 2021
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A previously healthy infant who suffered aborted sudden cardiac death was found to have a de novo genetic mutation in the SOS1 gene. Such mutations are typical of Noonan syndrome and suggests the syndrome may be a cause of ...
Aug 18, 2021
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