Greenwood Genetic Center (GGC) researchers are reporting the discovery of a mechanism that contributes to the tissue phenotypes seen in PMM2-CDG, the most common of the congenital disorders of glycosylation (CDGs).
Dec 8, 2021
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This past October was Canadian Autism Awareness Month. While studies show as many as one in every 165 Canadians has autism spectrum disorder (ASD), many people do not understand the disorder.
Nov 4, 2015
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Ciliopathies are rare disorders involving functional and structural abnormalities of cilia. Although they are rare, they may reach 1 in 1,000 births. Unfortunately, there are no small-molecule drugs for treating ciliary defects. ...
Aug 30, 2018
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Britain's fertility regulator on Wednesday confirmed the births of the U.K.'s first babies created using an experimental technique combining DNA from three people, an effort to prevent the children from inheriting rare genetic ...
May 10, 2023
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Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today ...
Dec 15, 2011
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Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published ...
May 31, 2024
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A Vietnamese man was in a stable condition in hospital Friday after doctors removed a giant tumour from his right leg that weighed more than the rest of his body, hospital officials said.
Jan 6, 2012
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Geneticists could identify the causes of disorders that currently go undiagnosed if standard practices for collecting individual genetic information were expanded to capture more variants that researchers can now decipher, ...
Sep 10, 2020
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The first patient was a mystery. Arriving at Duke six years ago at the age of three, the youngster had mild developmental delays and physical characteristics that included a large body and large head circumference. A genetic ...
Sep 29, 2016
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Dietary fibre may be a new tool in the prevention of progressive lung disease, thanks to the production of anti-inflammatory short chain fatty acids (SCFA), according to a new study by Australia's Priority Research Centre ...
Apr 5, 2019
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