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.

Hope on the horizon for hereditary angioedema sufferers

Although there is currently no treatment approved by the Federal Drug Administration (FDA) for acute attacks of hereditary angioedema (HAE) - a genetic disease causing swelling of extremities, face and internal organs that can be life-threatening - hope is on the horizon according to a team of experts presenting the latest research at the Annual Meeting of the American College of Allergy, Asthma and Immunology (ACAAI) in Dallas.

14 Nov 2007

Carnegie Mellon researchers to develop new stem cell-based drug delivery therapy

Carnegie Mellon University's Stefan F. Zappe is using adult neural stem cells to develop a new stem cell-based drug delivery therapy that may ultimately help treat a variety of inherited genetic disorders like Hunter syndrome.

5 Nov 2007

Family history of bipolar affects decision to have children

One in three people with a strong family history of bipolar disorder (manic depression) are reluctant to have children due to the hereditary nature of the illness and its perceived social stigma, new research from the University of New South Wales (UNSW) has found.

4 Nov 2007

The role of growth factor in vertebrae formation

The Stowers Institute's Pourquié Lab has demonstrated the role of fibroblast growth factor (FGF) in the embryonic process of somitogenesis, an event required for vertebrae formation, in a paper posted to the Web site of the journal Development.

31 Oct 2007

Not just humans benefit from animal biotechnology

Laboratory animals are the source of major discoveries and breakthroughs in biology, not just in tackling disease but also unravelling fundamental molecular processes.

25 Oct 2007

Stem cells to treat damaged eyes and a rare skin disorder

Doctors and scientists in Italy have shown how stem cells can be used to treat damaged eyes and, in combination with gene therapy, a rare and debilitating skin disease.

22 Oct 2007

Experts warn women about experimental fertility options

The American Society for Reproductive Medicine (ASRM) has warned women that two experimental fertility procedures currently being offered remain unproven.

22 Oct 2007

Oral medication restores missing protein in boys with muscular dystrophy

PTC124, an oral medication that changes the way muscle cells interpret genetic information, holds promise as a treatment for some patients with Duchenne muscular dystrophy (DMD), the Muscular Dystrophy Association ( http://www.mda.org/ ) announced today.

19 Oct 2007

Study identifies pathway required for normal reproductive development

Massachusetts General Hospital (MGH) clinical researchers, in collaboration with basic scientists from the University of California, Irvine (UC Irvine) have identified a new molecular pathway required for normal development of the reproductive, olfactory and circadian systems in both humans and mice.

17 Oct 2007

New technique to probe the dynamics of the Holliday junction

The Holliday junction is a four-stranded DNA structure that forms during a process known as homologous recombination, which occurs when damaged DNA is repaired. Understanding how DNA repairs itself is an essential step in ultimately developing therapies for genetic disorders.

17 Oct 2007

Discovery of protein that plays a key role in the recycling of iron from blood

Scientists working in the only lab at MIT doing hematology research have uncovered a protein that plays a key role in the recycling of iron from blood. Their work, described in the October 11 Journal of Clinical Investigation, could lead to new therapies for certain inherited blood disorders such as beta-thalassemia, a condition that causes chronic anemia.

12 Oct 2007

One injection of gene therapy spreads through brain in animal study

By targeting a site in a mouse brain well connected to other areas, researchers successfully delivered a beneficial gene to the entire brain - after one injection of gene therapy.

9 Oct 2007

Worm study sheds light on how the human body ages

Microscopic worms used for scientific research are living longer despite cellular defects, a discovery that is shedding light on how the human body ages and how doctors could one day limit or reverse genetic mutations that cause inherited diseases, according to a new University of Colorado at Boulder study.

2 Oct 2007

New view of what causes greatest genetic variability among individuals

A study by Yale researchers offers a new view of what causes the greatest genetic variability among individuals - suggesting that it is due less to single point mutations than to the presence of structural changes that cause extended segments of the human genome to be missing, rearranged, or present in extra copies.

27 Sep 2007

Scientists produce equivalent of test-tube inner ear hair cells

Birds, fish and amphibians can do something that humans and other mammals generally cannot: re-grow damaged or lost inner ear hair cells.

27 Sep 2007

Biologists link Huntington's disease to health benefits in young

For years researchers in neurology have believed that people with Huntington's disease have more children than the general population because of behavioral changes associated with the disease that lead to sexual promiscuity.

26 Sep 2007

Noninvasive prenatal testing by analyzing mother's blood

Currently, prenatal diagnosis of genetic diseases and genetic monitoring of fetal development require invasive procedures.

21 Sep 2007

Researchers question genetic screening programs

The study by a team at Shaare Zedek Medical Centre in Jerusalem, is the first to examine what couples actually did when they learned their unborn child had a condition called Gaucher disease, an inherited condition which can be effectively treated.

20 Sep 2007

Study examines implications of genetic screening for disease that can be less serious, treatable

Some couples in Israel whose fetus screened positive for Gaucher disease, which can range from being mild and treatable to being a severe disease, decided to have the pregnancy terminated, raising questions concerning the appropriateness of certain types of genetic screenings, according to a study in the September 19 issue of JAMA.

18 Sep 2007

Powerful new discovery method speeds up gene discovery

Scientists will be able to pinpoint genetic causes of human diseases faster than ever thanks to a powerful new discovery method unveiled by the Southwest Foundation for Biomedical Research (SFBR) and an international team of researchers.

17 Sep 2007