Ataxia Telangiectasia News and Research

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Ataxia-telangiectasia (A-T) is a primary immunodeficiency disease which affects a number of different organs in the body. An immunodeficiency disease is one that causes the immune system to break down, making the body susceptible to diseases. It is a rare, recessive genetic disorder of childhood that occurs in between 1 out of 40,000 and 1 out of 100,000 persons worldwide. The ailment is progressive. Patients with A-T are frequently wheelchair-bound by their teens, and the disease is generally fatal to patients by the time they reach their twenties.

Gene study sheds new light on lung cancer

A multi-institution team, funded by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH), today reported results of the largest effort to date to chart the genetic changes involved in the most common form of lung cancer, lung adenocarcinoma. The findings should help pave the way for more individualized approaches for detecting and treating the nation's leading cause of cancer deaths.

22 Oct 2008

New insight into the pathogenesis of neurodegeneration in Ataxia telangiectasia

An upcoming paper from Dr. David Wassarman (University of Wisconsin School of Medicine and Public Health) in the May 1 issue of G&D lends new insight into the pathogenesis of neurodegeneration in Ataxia telangiectasia.

15 Apr 2008

Scientists discover role of ataxia telangiectasia mutated protein in DNA repair

Scientists from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Cancer Institute (NCI), and Integrative Bioinformatics Inc. have made an important discovery about the role of an enzyme called ataxia telangiectasia mutated protein (ATM) in the body's ability to repair damaged DNA.

28 Jun 2007

Scientists unravel breast cancer risk gene mystery

The risk of developing breast cancer is doubled in women who inherit a damaged version of a gene called ATM, according to a study published by Cancer Research UK funded scientists and collaborators in Nature Genetics.

10 Jul 2006

New diagnostic approach for carriers of recessive genetic disorders

Scientists Vivian Cheung and Warren Ewens from the University of Pennsylvania have developed a new approach for the diagnosis of medical disorders that are inherited in a recessive manner.

3 Jul 2006

Scientists describe elaborate system of gene control triggered by chemical damage to DNA

Scientists describe for the first time a web of inter-related responses that cells use to avoid becoming diseased or cancerous after being exposed to a powerful mutagen.

7 Jun 2006

Mutations in the gene, called PIG-A may help identify individuals at high risk for cancer

A new study to detect an elevated rate of mutations in a gene on the X chromosome holds promise for developing a test that could identify individuals at risk for developing cancer.

26 Sep 2005

New understanding of DNA repair processes may pave way to cancer treatments

A Burnham Institute study has found that a protein known for its role in gene regulation has another important function, that of initiating DNA repair. The study, published in the May 27th edition of Molecular Cell, points to new targets for treatment of cancer.

30 May 2005

Scientists have devised a novel way to repair one of the genetic mutations that causes ataxia-telangiectasia

UCLA scientists have devised a novel way to repair one of the genetic mutations that causes ataxia-telangiectasia, (A-T), a life-shortening disorder that devastates the neurological and immune systems of one in 40,000 young children.

19 Oct 2004

Researcher looks for clues to degenerative, deadly disease called Ataxia-telangiectasia

Few have heard of the degenerative, deadly disease called Ataxia-telangiectasia (A-T) but a University of Alberta researcher is hoping to provide clues to this mysterious disorder.

23 Sep 2004