Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular ...
Jan 12, 2015
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Scientists have pinpointed for the first time the genetic cause in some people of an incurable muscle-wasting disease, Emery-Dreifuss muscular dystrophy (EDMD).
Sep 11, 2014
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New research from the University of Sheffield could offer solutions into slowing down the progression of motor neurone disease (MND).
Sep 27, 2013
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Although heavily studied, the specific genetic causes of "complex diseases," a category of disorders which includes autism, diabetes and heart disease, are largely unknown due to byzantine genetic and environmental interactions.
Sep 26, 2013
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Researchers at the Medical Research Council (MRC) have developed and tested a more efficient and cost effective way to diagnose early onset, genetic forms of dementia.
Sep 16, 2013
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Earlier this month, researchers and advocates from 40 countries formed a global alliance to enable the secure sharing of genomic and clinical data, aiming to end the era in which only the people who collected your genetic ...
Jul 3, 2013
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(Medical Xpress)—Research carried out by Medical Research Council (MRC) researchers at the University of Oxford has uncovered a chain of genetic events that are common in individuals with autism, and have examined for the ...
Jun 14, 2013
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Research funded by children's charity Action Medical Research has uncovered new gene variants in startle disease, a rare condition in newborn babies. Understanding the genetic causes should lead to new genetic tests and is ...
May 30, 2013
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Scientists at the Texas Biomedical Research Institute in San Antonio have identified four genes in baboons that influence levels of "bad" cholesterol. This discovery could lead to the development of new drugs to reduce the ...
May 15, 2013
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Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia – ...
May 8, 2013
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