american journal of human genetics
Scientists identify susceptibility factor for bipolar disorder
A new study provides fascinating insight into the genetic basis of bipolar disorder, a highly heritable mood disorder characterized by recurrent episodes of mania and depression. The research, published by Cell Press online February 24 in the Americ…
New gene test offers personalized treatment for inherited neuromuscular disorder
The gene, GFPT1, has been identified by researchers at Newcastle University working with international colleagues, as crucial in causing a variation of Congenital Myasthenic Syndrome (CMS).
The condition came to prominence in recent times in the U…
CHOP-led study detects dozens of genes for adult height
As much as 90 percent of variation in adult height may be caused by genetic inheritance, but a multitude of genes are involved. Most of these have yet to be discovered.
Now a new meta-analysis of data from more than 100,000 people has identified …
Faulty gene linked to disorders of sexual development
Scientists have discovered that the alteration of a single gene could cause some male embryos to develop as females.
The breakthrough will improve diagnosis and clinical management of patients with disorders of sex development (DSD). These conditi…
UTHealth discoveries shed more light on deadly thoracic aortic disease
HOUSTON — (Nov. 18, 2010) — Discovery of a fifth gene defect and the identification of 47 DNA regions linked to thoracic aortic disease are the subject of studies released this month involving researchers at The University of Texas Health Scienc…
New insight into the cause of common dementia found by researchers at Mayo Clinic
JACKSONVILLE, Fla. — Researchers at the Mayo Clinic campus in Florida have found a clue as to how some people develop a form of dementia that affects the brain areas associated with personality, behavior, and language.
In the Nov. 17 online is…
Genetic defect found to cause severe epilepsy and mental retardation
BEER-SHEVA, Israel, October 12, 2010 — A research team at Ben-Gurion University of the Negev and Soroka University Medical Center in Beer-Sheva, Israel has detected a genetic mutation resulting in a progressive disease of severe mental retardatio…
Genetic Risk Factor for Parkinson's Disease Discovered
Inherited variations in proteins that produce energy for the body may provide protection from developing Parkinson’s disease, according to a new study by scientists at Duke University Medical Center. Furthermore, the inherited gene variations seem particularly to protect white women, which may help explain why Parkinson’s disease is seen more often in men.
Research points to chance as cause of genetic diseases in Ashkenazi Jews
A population of Jewish people known as the Ashkenazi Jews have an unusually high risk of several genetic diseases, and up until now, no one has understood why. Was it random chance that made mutations so common or did evolution play a role in keeping mutations around? The answer to this question, said researchers at Stanford University Medical Center, appears to be chance. Their findings appear in the March online issue of the American Journal of Human Genetics and in the journal’s April print edition.
New Genetic 'Fishing Net' Harvests Elusive Autism Gene
Researchers have developed a new statistical genetic “fishing net” that they have cast into a sea of complex genetic data on autistic children to harvest an elusive autism gene.
Moreover, the researchers said that the success of the approach will be broadly applicable to studying genetic risk factors for other complex genetic diseases, such as hypertension, diabetes and multiple sclerosis. In this case, the gene, which encodes part of a brain neurotransmitter docking station called the gamma-Aminobutyric Acid Receptor beta3-subunit (GABRB3), has been implicated in autism previously, but never positively linked to the disease. Their findings will be published in the March 2003 issue of the American Journal of Human Genetics.
Researchers find genetic link to bulimia nervosa
A team of researchers has linked an area of chromosome 10p to families with a history of bulimia nervosa, providing strong evidence that genes play a determining role in who is susceptible to developing the eating disorder. The finding, gleaned from blood studies of 316 patients with bulimia and their family members, is the result of the first multinational collaborative genome-wide linkage scan to look exclusively at bulimia. Earlier this year, another linkage scan found evidence of genes for the eating disorder anorexia nervosa on chromosome 1.