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.

Caffeine in sunscreens may protect from skin cancer: Study

Studies have revealed that drinking caffeinated beverages reduces one’s chances of developing some types of cancer, including UV-associated skin cancer. Now, researchers propose a possible mechanism for this observation—the inhibition of a DNA repair pathway that sensitizes cells to death after sun exposure.

15 Aug 2011

Jeffrey Modell Foundation opens new center for primary immunodeficiency

The Jeffrey Modell Foundation today announced the opening of a new center at Johns Hopkins Children's Center dedicated to the early diagnosis and appropriate treatment of children with primary immunodeficiency, a group of potentially fatal conditions in which the immune system malfunctions or is missing.

22 Apr 2011

Cancer-causing retrovirus prolongs survival of host cells

A cancer-causing retrovirus exploits key proteins in its host cells to extend the life of those cells, thereby prolonging its own survival and ability to spread, according to a new study by researchers at The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC - James) and Ohio State's College of Veterinary Medicine.

23 Feb 2011

Study reveals how MMSET gene enables disease-causing mutations to occur

For several decades, researchers have been linking genetic mutations to diseases ranging from cancer to developmental abnormalities. What hasn't been clear, however, is how the body's genome sustains such destructive glitches in the first place.

3 Feb 2011

Discovery reveals a new approach to target cancer

Researchers at the University of Pittsburgh Cancer Institute (UPCI) and the School of Medicine have discovered that inhibiting a key molecule in a DNA repair pathway could provide the means to make cancer cells more sensitive to radiation therapy while protecting healthy cells.

3 Jun 2010

Breast cancer survivors at increased risk of developing second cancer: Study

Certain rare mutations in the ataxia telangiectasia mutated gene, combined with radiation exposure, may increase a woman's risk of developing a second cancer in the opposite breast, according to a study published online March 19 in the Journal of the National Cancer Institute.

20 Mar 2010

Global Genes Project: World Rare Disease Day 2010, a tremendous success

The Global Genes Project, a worldwide rare disease awareness initiative, today announced the success from its World Rare Disease Day 2010 efforts and laid out plans for future rare disease awareness campaigns.

8 Mar 2010

ATM tumor-suppressor also recognizes damage caused by ROS and orders autophagy

ATM, a protein that reacts to DNA damage by ordering repairs or the suicide of the defective cell, plays a similar, previously unknown role in response to oxidative damage outside of the nucleus, researchers report this week in the online version of the Proceedings of the National Academy of Sciences.

19 Feb 2010

Gene modification of human embryonic stem cells may yield potential treatments for genetic diseases

Biologists have developed an efficient way to genetically modify human embryonic stem cells. Their approach, which uses bacterial artificial chromosomes to swap in defective copies of genes, will make possible the rapid development of stem cell lines that can both serve as models for human genetic diseases and as testbeds on which to screen potential treatments, they say.

8 Jan 2010

940nm wavelength laser is superior for treating facial spider veins: BUSM researchers

Researchers from Boston University School of Medicine (BUSM) have concluded that the 940nm wavelength laser is superior for treating facial spider veins (telangiectasias) as compared to the 532nm wavelength laser. The findings, which appear in the recent issue of Lasers in Surgery and Medicine, are the first time these lasers were tested against each other for superiority.

7 Oct 2009

UCLA discovery raises hope for curing genetic disorders caused by nonsense mutations

UCLA scientists have identified two chemicals that convince cells to ignore premature signals to stop producing important proteins. Published in the Sept. 28 edition of the Journal of Experimental Medicine, the findings could lead to new medications for genetic diseases, such as cancer and muscular dystrophy, that are sparked by missing proteins.

29 Sep 2009

Don't stress when the going gets tough - you'll go gray!

A study by Japanese researchers has revealed that a certain kind of stress damages the hair - they say "genotoxic stress" damages DNA by depleting the melanocyte stem cells (MSCs) within hair follicles that are responsible for making the pigment-producing cells.

14 Jun 2009

Genotoxic stress makes your hair go gray

Those pesky graying hairs that tend to crop up with age really are signs of stress, reveals a new report in the June 12 issue of Cell, a Cell Press publication.

12 Jun 2009

Discovery of gene involved in pancreatic cancer

Researchers from the University of Michigan Comprehensive Cancer Center have identified a gene that is overexpressed in 90 percent of pancreatic cancers, the most deadly type of cancer.

2 Mar 2009

Researchers identify biochemical switch required for nerve cells to respond to DNA damage

The finding, scheduled for advance online publication in Nature Cell Biology, illuminates a connection between proteins involved in neurodegenerative disease and in cells' response to DNA damage.

19 Jan 2009

Study shows how defective DNA repair triggers 2 neurological diseases

Scientists at St. Jude Children's Research Hospital have teased apart the biological details distinguishing two related neurological diseases-ataxia telangiectasia-like disease (ATLD) and Nijmegen breakage syndrome (NBS).

15 Jan 2009

Virtuoso cell engineering

University of Michigan researchers have discovered that a key protein in cells plays a critical role in not one, but two processes affecting the development of cancer.

6 Jan 2009

Breakthrough in cellular analysis

Like skilled assassins, many diseases seem to know exactly what types of cells to attack.

16 Nov 2008

Breakthrough in cell-type analysis offers new ways to study development and disease

Like skilled assassins, many diseases seem to know exactly what types of cells to attack. While decimating one cadre of cells, diseases will inexplicably spare a seemingly identical group of neighbors. What makes cells vulnerable or not depends largely on the kinds and amounts of proteins they produce - their 'translational profile,' in the lingo of molecular biology. For this reason, scientists have struggled to parse the subtle molecular differences among the hundreds of specialized cell types that are tangled together in tissues like the brain.

13 Nov 2008