Genetic Disorder News and Research

RSS

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

Adult stem cell changes underlie Hutchinson-Gilford Progeria syndrome associated with accelerated aging

Adult stem cells may provide an explanation for the cause of a Hutchinson-Gilford Progeria Syndrome (HGPS), a rare disease that causes premature aging in children, according to researchers at the National Cancer Institute (NCI), part of the National Institutes of Health (NIH).

3 Mar 2008

Decline in cystic fibrosis since introduction of prenatal carrier screening

A brief report in the February 28, 2008, New England Journal of Medicine, led by researchers at the New England Newborn Screening Program (NENSP) of the University of Massachusetts Medical School (UMMS), indicates a declining incidence of a genetic disease, providing what may be the first demonstration of a link between two independent population-based screening programs.

28 Feb 2008

Tonsillectomy and adenoidectomy surgery improves quality of life for children with sleep apnea

For children who suffer from obstructive sleep apnea (OSA), a tonsillectomy and adenoidectomy can provide dramatic relief and is successful in solving sleep problems for 80 to 90 percent of children, a Saint Louis University study found.

13 Feb 2008

New approach to genetic diagnosis in autism

A practical, stepwise approach to diagnosing genetic causes of autism and related disorders is proposed in the January issue of Genetics in Medicine, official journal of the American College of Medical Genetics (ACMG), published by Lippincott Williams & Wilkins.

7 Feb 2008

Europe's most common genetic disease is a liver disorder

Much less widely known than the dangerous consequences of iron deficiencies is the fact that too much iron can also cause problems.

7 Feb 2008

Experimental drug shows promise for cystic fibrosis

An experimental drug that has proven effective in treating muscular dystrophy also works for cystic fibrosis, according to researchers at the University of Alabama at Birmingham (UAB).

5 Feb 2008

Mental and physical stimulation delays dementia in Huntington's disease

Scientists at Melbourne's Howard Florey Institute have discovered that mental and physical stimulation delays the onset of dementia in the fatal genetic disease, Huntington's disease.

25 Jan 2008

Johns Hopkins to participate in 1000 Genomes Project

Researchers at the McKusick-Nathans Institute of Genetic Medicine (IGM) at Johns Hopkins will join other national and international scientists in the 1000 Genomes Project, an ambitious effort that will involve sequencing the genomes of numerous people from around the world to create the most detailed and medically useful picture to date of human genetic variation.

23 Jan 2008

Stem cell therapy restores muscle function in mice with muscular dystrophy

Scientists in Texas have been able to restore muscle function in mice with muscular dystrophy by using embryonic stem cells.

21 Jan 2008

Minute genetic differences have major consequences

A study led by McGill University researchers has demonstrated that small differences between individuals at the DNA level can lead to dramatic differences in the way genes produce proteins.

21 Jan 2008

Surgeons remove 11-pound desmoid tumor, transplant bowel back into patient

Surgeons at the University of Illinois Medical Center at Chicago removed an 11-pound desmoid tumor from the abdominal cavity of an Arkansas man and performed a transplant using a segment of his own small intestine rescued during surgery, preserving his ability to eat and digest food.

21 Jan 2008

Genetic diversity of European Americans and disease gene mapping

Labels such as "European American", "white", or "Caucasian" are often viewed as representing a homogeneous category in gene mapping studies and census reports, but each of these labels actually groups together multiple populations, which have diverse origins due to the complex history of European immigration to the United States.

21 Jan 2008

Case researcher in RNA biology makes waves by challenging current thinking

In the January 18th issue of Molecular Cell, Case Western Reserve University School of Medicine researcher Kristian E. Baker, Ph.D. challenges molecular biology's established body of evidence and widely-accepted model for nonsense-mediated messenger ribonucleic acid (mRNA) decay.

21 Jan 2008

British scientists given go-ahead for human-animal embryo research

Scientists in Britain have been given the go-ahead to create human-animal hybrid embryos for research.

20 Jan 2008

New genetic variations associated with lipid levels, risk for coronary artery disease

Environmental and genetic factors influence a person's blood fat, or lipid levels, important risk factors for coronary artery disease (CAD). While there is some understanding of the environmental contribution, the role of genetics has been less defined.

14 Jan 2008

New method to identify genetic determinants of Alzheimer's

A rapid and accurate DHPLC assay for determination of apolipoprotein E genotypes has been developed by researchers from the Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.

14 Jan 2008

Chemical first found on Easter Island could treat tuberous sclerosis

A new study has shown promising results in fighting a severe genetic disorder which can create tumours throughout the body.

11 Jan 2008

New research links autism to genetic disorder

New research from the United States suggests that autism may be caused by a genetic disorder.

10 Jan 2008

Wisconsin now screens all newborns for severe combined immune deficiency

Wisconsin became the first state in the nation to screen all newborns for Severe Combined Immune Deficiency (SCID).

4 Jan 2008

New hope for Batten disease sufferers

Investigators at the University of Rochester Medical Center have uncovered a promising drug therapy that offers a ray of hope for children with Batten disease – a rare neurodegenerative disease that strikes seemingly healthy kids, progressively robs them of their abilities to see, reason and move, and ultimately kills them in their young twenties.

3 Jan 2008