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.

Specialists work to overcome Huntington's disease

The Huntington's Disease Society of America (HDSA) recognizes the Huntington's Disease Clinic and Research Group at University of Iowa Hospitals and Clinics as one of only 17 national Huntington's Disease Centers of Excellence.

25 May 2004

Discovery of the gene for Cornelia de Lange syndrome

An international team of researchers has discovered the gene for Cornelia de Lange syndrome, a disabling, multisystem genetic disease that affects an estimated one in 10,000 children. The finding is expected to lead to a genetic test, enabling rapid and definitive diagnosis of the syndrome, as well as prenatal testing for families who already have one child with the disease.

17 May 2004

Researchers identify new genes that control the formation of cilia found throughout the human body

Howard Hughes Medical Institute researchers have used a combination of brainpower and computer power to identify a multitude of new genes that control the formation of tiny, hair-like cilia that stipple the surfaces of many organs in a wide variety of creatures.

14 May 2004

New research center created by leading blood and marrow transplant organizations

In their mission to improve transplant access and outcomes for patients, the National Marrow Donor Program® (NMDP) and the Medical College of Wisconsin’s International Bone Marrow Transplant Registry and Autologous Blood and Marrow Transplant Registry (IBMTR/ABMTR) have created the Center for International Blood and Marrow Transplant Research (CIBMTR.)

11 May 2004

Embryo testing could produce babies who might aid sick siblings

Parents with a child requiring stem cell transplantation can have genetic testing done on embryos prior to implantation to determine if the tissue type matches and the ensuing offspring could potentially serve as a donor to the affected child, according to a study in the May 5 issue of The Journal of the American Medical Association (JAMA).

5 May 2004

FDA requires pancreatic extract manufacturers to get approval to remain on the market

The Food and Drug Administration (FDA) today formally notified manufacturers of pancreatic insufficiency products that these drugs must get approval by FDA within the next four years in order to remain on the market.

28 Apr 2004

FDA mandates approval for all pancreatic enzyme replacements

The Cystic Fibrosis Foundation has announced its support of the Food and Drug Administration's (FDA) requirement that manufacturers of pancreatic enzyme replacements obtain FDA approval for their products within the next four years.

27 Apr 2004

Discovery shows how single genetic mutation can cause complex disorders

Bardet-Biedl syndrome (BBS), characterized by obesity, learning disabilities and eye and kidney problems, is caused by genetic mutations in the BBS family of genes. Now, researchers who've long studied the condition have discovered that genetic mutations in one of those genes, called BBS4, lead to cell death by disrupting the cells' internal "highway" system.

25 Apr 2004

Spice turmeric corrects the cystic fibrosis defect

Scientists at The Hospital for Sick Children (Sick Kids) and Yale University School of Medicine have found that a compound in the spice turmeric corrects the cystic fibrosis defect in mice. This research is reported in the April 23, 2004 issue of the journal Science.

24 Apr 2004

Japanese scientists have created a viable mouse derived from two genetic mothers with no contribution by a male animal

Japanese scientists have created a viable mouse derived from two genetic mothers with no contribution by a male animal.

23 Apr 2004

Turmeric corrects the cystic fibrosis defect

22 Apr 2004

Gene discovery could improve anemia treatment in patients

Patients with inflammatory diseases such as arthritis, chronic infections and some types of cancer, often become anemic – a condition called anemia of chronic disease (ACD). While ACD rarely kills patients, it can make their lives miserable.

18 Apr 2004

New tool for study of carbohydrates could aid drug research

While many dieters are trying to cut carbs, a University of New Hampshire (UNH) biochemist has invented a way to capture them so scientists can more easily study their structure.

13 Apr 2004

Oxford Biomedica to win Department of Health gene funding

Oxford spinout Oxford Biomedica was yesterday awarded £0.5 million by the Department of Health to conduct the first British gene therapy haemophilia trial.

31 Mar 2004

£1.6m for research into a possible cure for muscular dystrophy

A consortium which includes Oxford researchers has won £1.6m in government funding for ground-breaking research into a possible cure for muscular dystrophy.

30 Mar 2004

Air pollution effects Cystic Fibrosis Sufferers

University of Washington (UW) researchers have shown for the first time that air pollution has adverse effects on people with cystic fibrosis (CF). The research results are published in the April 1 edition of the American Journal of Respiratory and Critical Care Medicine.

29 Mar 2004

Discovery of new gene sheds light on human brain development

With the identification of the gene responsible for a newly recognized type of mental retardation, researchers at Beth Israel Deaconess Medical Center (BIDMC) have also discovered what appears to be the key target in the evolution of the frontal lobes of the brain's cerebral cortex. The findings offer a key insight into the complex puzzle of human brain development - and the evolution of human behavior.

25 Mar 2004

Oregon Stem Cell Center Hunt for Human Disease Therapies

Oregon Health & Science University's fast-growing stem cell research program, which already has made significant strides in the hunt for human disease therapies, now has a place to call home.

23 Mar 2004