Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Disparities in infant mortality more to do with racism than with race

The cause of low birth weights among African-American women has more to do with racism than with race, according to a report by an associate professor of pediatrics at the University of Illinois at Chicago.

1 Aug 2007

New understanding of Sly Syndrome

The scientist who discovered “Sly Syndrome” nearly four decades ago and a team of colleagues at Saint Louis University are a step closer to finding an approach to treat the rare genetic disease.

26 Jul 2007

Combination of blood pressure-lowering drugs stops loss of kidney function in rare genetic disease

A combination of two types of blood pressure-lowering drugs, an angiotensin-converting enzyme inhibitor (ACEI) plus an angiotensin-receptor blocker (ARB), added to enzyme replacement therapy (ERT) with agalsidase-beta (Fabrazyme, Genzyme Corporation, Cambridge, MA) is the first treatment shown to stop progressive loss of kidney function in patients with severe kidney involvement due to the rare genetic disorder Fabry disease, reports a study in the September Journal of the American Society of Nephrology.

26 Jul 2007

New model for understanding how autism is acquired

A new model for understanding how autism is acquired has been developed by a team of researchers led by Cold Spring Harbor Laboratory (CSHL) and Albert Einstein College of Medicine.

25 Jul 2007

Implantable cardioverter-defibrillator effective in preventing sudden cardiac death in patients with hypertrophic cardiomyopathy

High-risk patients with hypertrophic cardiomyopathy appear to have reduced risk of sudden cardiac death with an implantable cardioverter-defibrillator that terminates dangerous heart rhythm disorders, according to a study in the July 25 issue of JAMA.

25 Jul 2007

Nanotechnology to test food quality

Researchers have created two tiny instruments capable of detecting a range of contaminants, from molecules to whole bacteria, in food and water, according to an article in the August issue of Microbiology Today.

23 Jul 2007

Study reveals surge in male-factor infertility technique

A national study reveals that the use of intracytoplasmic sperm injection or ICSI -- an assisted reproductive technology used to treat male-factor infertility -- has increased dramatically in the United States since 1995, while the proportion of patients receiving treatment for male-factor infertility has remained stable.

18 Jul 2007

Genetic variation linked to premenstrual depression

A specific genetic variation may be tied to an increased risk for severe premenstrual depression, scientists at the University of North Carolina at Chapel Hill and the National Institute of Mental Health have found.

18 Jul 2007

New method for early disease diagnosis

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.

18 Jul 2007

Simple blood test for newborns would save lives

The president of the March of Dimes Dr. Jennifer Howse says a simple blood test could save many newborns from premature death or mental retardation.

12 Jul 2007

FDA designates Carbaglu for treatment of NAGS deficiency as a Fast Track product

The Food and Drug Administration (FDA) in the USA has concluded that Carbaglu (carglumic acid) for treatment of N-acetylglutamate synthase (NAGS) deficiency meets the criteria for fast track designation.

10 Jul 2007

Ownership of genetic information

We all share our genetic make up with relatives, but should we also share ownership of the results of DNA analysis or should this knowledge be considered private?

9 Jul 2007

Hearing loss and von Hippel-Lindau disease

Patients with the genetic disorder von Hippel-Lindau disease may suddenly experience hearing loss because of a tumor-associated hemorrhage in the inner ear, according to a study in the July 4 issue of JAMA.

4 Jul 2007

New type of mouse embryonic stem cell discovered

Scientists have discovered a new type of mouse embryonic stem cell that is the closest counterpart yet to human embryonic stem (ES) cells, the National Institutes of Health (NIH) have announced.

28 Jun 2007

New genetic test advances detection and diagnosis of muscular dystrophy

A new genetic test targeting the most common types of muscular dystrophy--those caused by mutations in the dystrophin gene--is far quicker with greater accuracy and sensitivity than existing tests.

28 Jun 2007

New insight into the mechanism by which glial cells recognize and myelinate axons

In a host of neurological diseases, including multiple sclerosis (MS) and several neuropathies, the protective covering surrounding the nerves - an insulating material called myelin - is damaged.

27 Jun 2007

Cilia research may help find cure for inherited eye diseases

Researchers at the University of Pennsylvania School of Medicine have identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases.

23 Jun 2007

Mushrooms show promise for creation of new drugs

Mushrooms might serve as biofactories for the production of various beneficial human drugs, according to plant pathologists who have inserted new genes into mushrooms.

23 Jun 2007

40 percent of parents willing to have their child's DNA stored in a government biobank

Genetic testing holds great promise for the future. Information generated by genetic testing may provide information that leads to new treatments for common diseases such as heart disease and diabetes.

23 Jun 2007