Babies born with autosomal recessive polycystic kidney disease (ARPKD) often develop kidney failure because they have very large kidneys filled with tiny cysts. Even with excellent medical care, about 30% die shortly after ...
Oct 24, 2011
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In a paper published today in Diabetologia, a team at Joslin Diabetes Center, headed by Mary R. Loeken, PhD, has identified the enzyme AMP kinase (AMPK) as key to the molecular mechanism that significantly increases the risk ...
Oct 17, 2011
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For the first time, scientists have cleanly corrected a human gene mutation in a patient's stem cells. The result, reported in Nature on Wednesday 12 October, brings the possibility of patient-specific therapies closer to ...
Oct 12, 2011
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Over the past decade, new technologies have revealed that autism spectrum disorder has a substantial genetic component. But determining exactly which genes are involved has been like finding the proverbial needle in the haystack.
Oct 5, 2011
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In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering ...
Sep 6, 2011
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An international team of researchers has identified two new genes connected with hereditary renal diseases.
Sep 6, 2011
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A Ben-Gurion University of the Negev research group led by Prof. Ohad Birk has identified a gene whose defect specifically causes myopia or nearsightedness.
Sep 1, 2011
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Scientists have discovered a genetic cause of extreme thinness for the first time, in a study published today in the journal Nature.
Aug 31, 2011
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Researchers from VIB (Flanders Institute for Biotechnology) and Ghent University have shown that a defective gene can contribute to the onset of rheumatoid arthritis, an often-crippling inflammation of the joints that afflicts ...
Aug 16, 2011
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The loss of a protein that coats sperm may explain a significant proportion of infertility in men worldwide, according to a study by an international team of researchers led by UC Davis. The research could open up new ways ...
Jul 20, 2011
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