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.

Neurocutaneous disorders affect skin, nervous system

One of the most common genetic disorders is a condition called neurofibromatosis, which causes brown spots on the skin and benign tumors on the brain, spinal cord and other parts of the nervous system.

25 Jan 2016

Sanford Research scientists develop animal model to study neurodegenerative disease

Sanford Research scientists have developed a pig model for a neurodegenerative disease that could help better treat the disorder and other physiological conditions. The findings of the project are published in Human Molecular Genetics.

4 Nov 2015

Research provides insights into the ability of FL118 to overcome treatment resistance

The latest research from the team that discovered the novel anticancer agent FL118 highlights distinctive characteristics of this small-molecule compound and provides insights into its ability to overcome the persistent problem of treatment resistance. In findings reported in Molecular Cancer, Fengzhi Li, PhD, of Roswell Park Cancer Institute, and colleagues provide new evidence that FL118 may be more effective than two structurally similar injectable drugs and, additionally, may be effective as an oral agent.

30 Apr 2015

Researchers show importance of DNA damage in fine tuning of innate immune system

For the first time scientists from Umeå University show the importance of DNA damage in fine tuning of our innate immune system and hence the ability to mount the optimal inflammatory response to infections and other biological dangers.

18 Feb 2015

TAU's Yosef Shiloh receives Olav Thon Foundation's first international research award

Norway's largest charitable organization, the Olav Thon Foundation, which invests heavily in medical research, awarded its first international research award in the medical and natural sciences to Tel Aviv University's Prof. Yosef Shiloh and Prof. Judith Campisi of the Buck Institute for Research on Aging, California.

22 Jan 2015

FL118 agent shows efficacy as personalized, targeted therapy for certain cancer tumors

A team led by Fengzhi Li, PhD, and Xinjiang Wang, PhD, of Roswell Park Cancer Institute has reported new findings regarding therapeutic targets of the novel anticancer agent FL118. Previous studies from these researchers have showed that FL118 induces cancer cell death, or apoptosis, by inhibiting expression of multiple cell-survival proteins (survivin, Mcl-1, XIAP or cIAP2).

15 Dec 2014

Study of rare childhood neurodegenerative diseases identifies new source of DNA damage

St. Jude Children's Research Hospital scientists studying two rare, inherited childhood neurodegenerative disorders have identified a new, possibly common source of DNA damage that may play a role in other neurodegenerative diseases, cancer and aging.

12 May 2014

Scientists discover why cerebellar granule cell neurons in A-T patients fail to repair DNA damage

A team of scientists, led by Stuart Lipton, M.D., Ph.D., professor and director of the Neuroscience and Aging Research Center at Sanford-Burnham Medical Research Institute, recently discovered why cerebellar granule cell neurons in patients suffering from ataxia-telangiectasia (A-T) were unable to repair DNA damage and thus died.

26 Mar 2014

Merck and CNIO sign agreement to collaborate in area of cancer drug development

The Spanish National Cancer Research Centre (CNIO) and the German chemical and pharmaceutical company Merck today signed an agreement in Madrid to collaborate in the area of cancer drug development.

19 Dec 2013

Merck signs license agreement with CNIO for cancer drug development

Merck Serono, the biopharmaceutical division of Merck, today announced that a license agreement has been signed with the Spanish National Cancer Research Centre in Madrid in the area of cancer drug development. The global agreement will build upon CNIO research discoveries to encourage the development and commercialization of new compounds in the field of oncology.

18 Dec 2013

Specific types of intestinal bacteria are major contributors to lymphoma

Researchers from UCLA's Jonsson Comprehensive Cancer Center (JCCC) have discovered that specific types of bacteria that live in the gut are major contributors to lymphoma, a cancer of the white blood cells that are part of the human immune system.

16 Jul 2013

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.

15 May 2013

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.

13 May 2013

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.

8 May 2013

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.

29 Nov 2012

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.

6 Jul 2012

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.

20 Jun 2012

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.

24 Apr 2012

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.

12 Mar 2012

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.

14 Dec 2011