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…

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…

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.

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