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.

New insight into mechanism of DNA-break repair

A new UC Davis study that explains the actions of a gene mutation that causes early onset cancer provides a fundamental insight into the mechanism of DNA-break repair.

6 Aug 2007

Key signs of appendicitis

A 5-year-old with abdominal pain, nausea and fever may have appendicitis or any of a number of other problems.

3 Aug 2007

Discovery of molecular pathway that detects and eliminates defective messenger RNAs from red blood cells

Other such pathways - known as surveillance pathways - operate in a more general way, in many cell types. Knowing how this specific surveillance system works can help researchers better understand hereditary diseases, in this case, thalassemia, a form of anemia, which is the most common genetic disorder worldwide.

3 Aug 2007

Colon cancer may benefit from hormone replacement therapy

Researchers at the Kimmel Cancer Center at Jefferson in Philadelphia have found new evidence suggesting that colon cancer is actually a disease of missing hormones that could potentially be treated by hormone replacement therapy.

2 Aug 2007

New risk genes for multiple sclerosis

Two new large-scale genomic studies have honed in on the main genetic pathway associated with multiple sclerosis (MS), while also uncovering new genetic variations in the disease and suggesting a possible link between MS and other autoimmune diseases.

1 Aug 2007

Genomics study provides insight into the evolution of unique human traits

Researchers from the University of Colorado Health Sciences Center, along with colleagues from Stanford University, report the results of a large-scale, genome-wide study to investigate gene copy number differences among ten primate species, including humans.

1 Aug 2007

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