The International A-T Workshops have been held every few years since 1980. The meeting is unique in that it focuses comprehensively on the various facets of A-T, the disease, and ATM function. Meetings have been located in different parts of the world and organized by volunteers from those locations. This serves to recognize their leadership in A-T/ATM research and allows local young investigators to attend and participate who might otherwise not have that opportunity.
Thursday 17th May
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Sussex, England, USA
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5-7 November 1980
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Solvang, California, USA
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16-20 January 1984
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Newport Beach, California, USA
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22-24 February 1987
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Newport Beach, California, USA
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21-24 May 1989
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Newport Beach, California, USA
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17-20 May 1992
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Birmingham, England
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22-25 March 1994
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Clermont-Ferrand, France
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22-24 November 1997
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Las Vegas, Nevada, USA
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14-17 February 1999
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Fraser Island, Queensland, Australia
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10-14 September 2003
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Belgirate, Lago Maggiore, Italy
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8-11 June 2005
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Banff, Alberta, Canada
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8-12 September 2006
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Kyoto, Japan
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22-26 April 2008
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Redondo Beach, California, USA
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11-14 April 2010
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Delhi, India
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7 to 11 February 2012
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Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder that affects approximately 1 in 300,000 live births. A-T is characterized by progressive cerebellar ataxia, telangiectasia, immunodeficiency, chromosomal instability, radiation sensitivity and increased incidence of malignancies, particularly leukaemia and lymphoma. The disease affects different ethnic groups. Symptoms of A-T usually manifest in the first few years of life when children exhibit a wobbly gait, but by teenage, progressive loss of neuromuscular control typically leads to confinement to a wheel chair. A-T patients usually succumb to infection, pulmonary failure, and/or lymphoid cancer. There are currently no established treatments for the disorder. It has been estimated that 0.5% of the general population carries mutations in one allele of the ATM (ataxia-telangiectasia mutated) gene and that these ATM heterozygotes also have an increased risk of developing breast cancer.
In addition, inactivation of the ATM gene may occur in general population later in life in haemopoietic cells and represents a frequent feature of malignancies such as chronic lymphocytic leukaemia, mantle cell lymphoma and T cell prolymphocytic leukaemia. The ATM gene encodes a large (370 kDa) serine/threonine kinase, with hundreds of phosphorylation substrates. Cells that lack ATM are highly sensitive to agents, such as ionizing radiation (IR) that produce DNA double strand breaks and are defective in the activation of multiple cell cycle checkpoints in response to such DNA damage. However, ATM null blood cancers tend to have reduced response to chemotherapy as ATM protein is also required for DNA damaged induced programmed cell death. Many other cellular processes are affected as well as the development and differentiation of haemopoietic and neural cells. Since the identification of the gene in 1995, it has become apparent that ATM plays a critical role in regulating the cellular response to some other DNA damaging agents besides ionizing radiation. ATM has a number of partners, such as Mre11, Rad50 and Nbs1, that can also be associated with human disease giving rise to clinical features similar to ataxia telangiectasia. Therefore, It is also now clear that the A-T syndrome provides a prototypic phenotype for diseases of DNA processing and repair of double strand breaks- i.e., such patients share the common features of neurological problems, cancer predisposition, immunodeficiency, and radiosensitivity.