genetic disorders

New tool to identify DNA patterns of genetic disorders

harminka — Tue, 19 May 2009 12:00:44 -0500

A new tool will help researchers identify the minute changes in DNA patterns that lead to cancer, Huntington's disease and a host of other genetic disorders. The tool was developed at North Carolina State University and translates DNA sequences into graphic images, which allows researchers to distinguish genetic patterns more quickly and efficiently than was historically possible using computers.

Scientists explain genetic disease discovered in Quebec 24 years ago

harminka — Thu, 15 Jan 2009 02:40:52 -0600

Scientists at the MUHC and McGill University have identified a gene essential for the uptake of vitamin B12 in human cells. The discovery of this gene finally completes a 24 year-old hunt for the cause of an incredibly rare genetic disorder called, cblF combined homocystinuria and methylmalonic aciduria (cblF-Hcy-MMA), first documented in a Quebec infant in 1985.

Australia leads world first global effort to improve diagnosis of genetic disorders

harminka — Fri, 07 Nov 2008 12:24:24 -0600

An Australian-led global initiative to improve the diagnosis of genetic disorders and reduce errors in the reporting of genetic variations has been published today in the prestigious scientific journal Science.

Genetic disorder sheds light on enzyme's role in bone metabolism

harminka — Wed, 05 Nov 2008 08:04:51 -0600

Pycnodysostosis, a condition from which the painter Henri de Toulouse-Lautrec suffered, is a genetic disease characterized by short stature. This rare disease, surprisingly, provides a window into how joints are destroyed by arthritis.

Characteristics, treatment options for XXYY syndrome

harminka — Mon, 25 Aug 2008 07:37:45 -0500

Researchers at the UC Davis M.I.N.D. Institute and The Children's Hospital in Denver have conducted the largest study to date describing the medical and psychological characteristics of a rare genetic disorder in which males have two "X" and two "Y" chromosomes, rather than the normal one of each.

NIH researchers find that Rett syndrome gene is full of surprises

harminka — Thu, 29 May 2008 14:25:29 -0500

A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms.

Genetic mutation associated with increased risk of lung cancer

harminka — Tue, 27 May 2008 08:27:07 -0500

Carriers of a common genetic disorder previously linked to lung disease may have a 70-percent to 100-percent increased risk of lung cancer, according to a report in the May 26 issue of Archives of Internal Medicine, one of the JAMA/Archives journals.

Common gene disorder doubles risk of lung cancer

harminka — Tue, 27 May 2008 08:03:32 -0500

Mayo Clinic researchers have found that carrying a common genetic disorder doubles the risk of developing lung cancer in smokers and nonsmokers.

How personalized medicine will alter treatment of genetic disorders

harminka — Thu, 27 Dec 2007 08:18:17 -0600

One of the nation’s pre-eminent genetic researchers, Eric Hoffman, PhD, of Children’s Research Institute at Children’s National Medical Center, predicts that in relatively short order, medicine’s next innovation--individualized molecular therapies--will have the unprecedented ability to treat muscular dystrophies, and other disorders.

Brain Imaging Aids in Defense against Genetic Disease

harminka — Sat, 13 Oct 2007 10:31:18 -0500

Children born with a rare genetic disorder that can lead to debilitating and irreversible brain injury may find protection with the aid of brain imaging and a modified diet.

New light on diseases causing blood vessel breakdown

harminka — Mon, 30 Jul 2007 06:38:22 -0500

Twenty-one years after they first described a fatal genetic disorder in Missouri and Arkansas families, scientists at Washington University School of Medicine in St. Louis have linked the condition to mutations in a gene known as TREX1.

Researchers explore new method for early disease diagnosis

harminka — Wed, 18 Jul 2007 12:07:13 -0500

Purdue University researchers worked with the Indiana University School of Medicine to establish a technique that provides a new approach for detecting a number of genetic disorders found in infants and young children.