American Journal of Human Genetics
A cautionary tale on genome-sequencing diagnostics for rare diseases
Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing ...
Genetics
May 10, 2013 |
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Research identifies gene mutations associated with nearsightedness
People have long taken for granted that glasses and contact lenses improve vision for nearsightedness, but the genetic factors behind the common condition have remained blurry. Now researchers at Duke Medicine ...
Genetics
May 02, 2013 |
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Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue
Researchers from the RIKEN Center for Integrative Medical Sciences have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue. This finding ...
Genetics
May 09, 2013 |
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Genetic variant may explain weight loss post-RYGB surgery
(HealthDay)—A genetic variant associated with weight loss after Roux-en-Y gastric bypass (RYGB) surgery has been identified, according to a study published in the May 2 issue of the American Journal of ...
Genetics
May 07, 2013 |
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Mystery disease solved by gene experts
(Medical Xpress)—A global team of researchers has identified the gene behind an Australian toddler's paediatric brain disorder in a discovery that is paving the way for the diagnosis and treatment of other ...
Genetics
May 03, 2013 |
4.5 / 5 (2) |
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Gene variant appears to predict weight loss after gastric bypass
Massachusetts General Hospital (MGH) researchers have identified a gene variant that helps predict how much weight an individual will lose after gastric bypass surgery, a finding with the potential both to ...
Genetics
May 02, 2013 |
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Evolving genes lead to evolving genes
Researchers have designed a method that can universally test for evolutionary adaption, or positive (Darwinian) selection, in any chosen set of genes, using re-sequencing data such as that generated by the 1000 Genomes Project. ...
Genetics
Apr 18, 2013 |
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Evolutionary increase in size of the human brain explained
Researchers have found what they believe is the key to understanding why the human brain is larger and more complex than that of other animals.
Genetics
Aug 16, 2012 |
4.2 / 5 (17) |
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Identical twins reveal mechanisms behind aging
In a recent study led by Uppsala University, the researchers compared the DNA of identical (monozygotic) twins of different age. They could show that structural modifications of the DNA, where large or small DNA segments ...
Genetics
Feb 02, 2012 |
4.6 / 5 (15) |
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Genome sequencing finds unknown cause of epilepsy
Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction.
Genetics
Feb 23, 2012 |
4.6 / 5 (7) |
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Gene regulator in brain's executive hub tracked across lifespan
For the first time, scientists have tracked the activity, across the lifespan, of an environmentally responsive regulatory mechanism that turns genes on and off in the brain's executive hub. Among key findings ...
Autism spectrum disorders
Feb 02, 2012 |
5 / 5 (3) |
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Where chromosomes agree, researchers find signatures of human migrations and marriage practices
(Medical Xpress) -- Your genome is a window onto your heritage – or, more precisely, several windows. There are the marks left by human evolution, the traces of ancient human migrations out of Africa ...
Genetics
Aug 15, 2012 |
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Breakthrough in deafness and ovarian failure syndrome
(Medical Xpress)—Researchers from Manchester Biomedical Research Centre at Saint Mary's Hospital and the University of Manchester have identified a new gene, which increases our understanding of the rare ...
Genetics
Mar 29, 2013 |
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Genetic error linked to rare disease that causes chronic respiratory infections
(Medical Xpress)—Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, primary ciliary dyskinesia.
Genetics
Oct 16, 2012 |
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New gene discovery unlocks mystery to epilepsy in infants
(Medical Xpress) -- A team of Australian researchers has come a step closer to unlocking a mystery that causes epileptic seizures in babies.
Genetics
Jan 16, 2012 |
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