Members of a Tunisian family with tumors on their hands, feet and eyes may provide helpful information for the treatment of squamous cell carcinoma, a common skin cancer.
Jun 24, 2015
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Researchers funded by the National Institutes of Health (NIH) have identified a new immune disorder—DOCK2 deficiency—named after the mutated gene responsible for the disease. An international team of collaborators studied ...
Jun 17, 2015
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The discovery of the first gene causing familial scoliosis was announced by an international France-Canada research team today.
Feb 2, 2015
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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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A team of scientists led by researchers from the University of California, San Diego School of Medicine and Ludwig Institute for Cancer Research have identified a novel therapeutic approach for the most frequent genetic cause ...
Nov 8, 2013
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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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More than 50 million people worldwide have epilepsy, with a third of these being children. The most common forms of epilepsy in children occur without any apparent trigger and only affect certain regions of the brain. This ...
Aug 12, 2013
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