Ataxia telangiectasia News and Research RSS Feed - Ataxia telangiectasia News and Research

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.

A-T is characterized by neurological problems, particularly abnormalities of balance, recurrent sinus and respiratory infections, and dilated blood vessels in the eyes and on the surface of the skin. Patients usually have immune system abnormalities and are very sensitive to the effects of radiation treatments.

In the United States, where recurrent infections typical of the disorder are usually controlled by antibiotics, patients are at high risk of developing and dying of cancer, particularly leukemias and lymphomas.
Novel drug may increase the effectiveness of radiation therapy for brain cancer

Novel drug may increase the effectiveness of radiation therapy for brain cancer

A novel drug may help increase the effectiveness of radiation therapy for the most deadly form of brain cancer, report scientists at Virginia Commonwealth University Massey Cancer Center. In mouse models of human glioblastoma multiforme (GBM), the new drug helped significantly extend survival when used in combination with radiation therapy. [More]
Disease-in-a-dish models show promise for treating ataxia telangiectasia

Disease-in-a-dish models show promise for treating ataxia telangiectasia

Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia. [More]
Research discovery may lead to effective new treatments for neurodegenerative disease

Research discovery may lead to effective new treatments for neurodegenerative disease

UCLA researchers led by Drs. Peiyee Lee and Richard Gatti at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells to advance disease-in-a-dish modeling of a rare genetic disorder, Ataxia Telangiectasia. [More]
DLKI-DIO3 miRNA cluster suppresses spread of cancer from its primary site

DLKI-DIO3 miRNA cluster suppresses spread of cancer from its primary site

Scientists from the Florida campus of The Scripps Research Institute (TSRI) have uncovered a group of what have been considered relatively minor regulators in the body that band together to suppress the spread of cancer from its primary site. [More]
Scientists discover new signalling pathway that controls both obesity and atherosclerosis

Scientists discover new signalling pathway that controls both obesity and atherosclerosis

A*STAR scientists from the Institute of Molecular and Cell Biology (IMCB) and the Singapore Bioimaging Consortium (SBIC) have discovered a new signalling pathway that controls both obesity and atherosclerosis. [More]

Researchers determine structure of MRN complex

Double-stranded breaks in cellular DNA can trigger tumorigenesis. Researchers from Ludwig-Maximilians-Universitaet (LMU) in Munich have now determined the structure of a protein involved in the repair and signaling of DNA double-strand breaks. The work throws new light on the origins of neurodegenerative diseases and certain tumor types. [More]
TopBP1 protein prevents early brain cells from DNA damage

TopBP1 protein prevents early brain cells from DNA damage

St. Jude Children's Research Hospital scientists have rewritten the job description of the protein TopBP1 after demonstrating that it guards early brain cells from DNA damage. Such damage might foreshadow later problems, including cancer. [More]
Human diseases with Drosophila counterparts discussed at annual conference

Human diseases with Drosophila counterparts discussed at annual conference

More than two-thirds of human genes have counterparts in the well-studied fruit fly, Drosophila melanogaster, so although it may seem that humans don't have much in common with flies, the correspondence of our genetic instructions is astonishing. In fact, there are hundreds of inherited diseases in humans that have Drosophila counterparts. [More]
NYUCI experts present latest research findings about hematologic cancers at 53rd ASH meeting

NYUCI experts present latest research findings about hematologic cancers at 53rd ASH meeting

Experts from the NYU Cancer Institute, an NCI-designated cancer center at NYU Langone Medical Center, presented their latest research findings about hematologic cancers at the 53rd ASH Annual Meeting and Exposition held December 10-13, 2011 in San Diego, California. [More]
Caffeine in sunscreens may protect from skin cancer: Study

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. [More]

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. [More]
Cancer-causing retrovirus prolongs survival of host cells

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. [More]

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. [More]
Discovery reveals a new approach to target cancer

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. [More]

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. [More]

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. [More]
ATM tumor-suppressor also recognizes damage caused by ROS and orders autophagy

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. [More]
Gene modification of human embryonic stem cells may yield potential treatments for genetic diseases

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. [More]

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. [More]

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. [More]