News tagged with genetic defect

The HOIL1 gene: The cause of a new rare disease

The researcher Capucine Picard, working with the team from Inserm unit 980 "Human genetics and infections diseases"/Université Paris Descartes under the leadership of Jean-Laurent Casanova, along with researchers from a ...

Nov 01, 2012
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Scientists discover gene behind rare disorders

Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.

Oct 09, 2012
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Too much protein HUWE1 causes intellectual disability

Two to three percent of the children are born with an intellectual disability. Possibly by a genetic defect, but in 80% of these cases, we do not know – yet - which genes are responsible. VIB researchers at KU Leuven show ...

Aug 31, 2012
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Vitamin B12 deficiency: Tracking the genetic causes

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...

Aug 26, 2012
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Manipulating the microbiome could help manage weight

Vaccines and antibiotics may someday join caloric restriction or bariatric surgery as a way to regulate weight gain, according to a new study focused on the interactions between diet, the bacteria that live in the bowel, ...

Aug 26, 2012
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