Our mission is simple, we aim to speed up the process of identifying a cure for A-T or treatments that delay or prevent the disabling effects of this devastating childhood condition. We do this by promoting, seeking and funding high quality peer-reviewed medical research both in the UK and around the world.
Health
WHAT IS ATAXIA TELANGIECTASIA (A-T) A-T is a rare, neurodegenerative, inherited disease which affects many parts of the body and causes severe disability. Ataxia means poor co-ordination and the Telangiectasia are extra blood vessels which can be seen, especially on the whites of the eyes. A-T is progressive and affects the cerebellum (the body's motor control centre) and, in about 70% of cases, weakens the immune system as well, leading to respiratory disorders. The condition first shows itself in early childhood, i.e. the toddler stage. The symptoms are lack of balance, slurred speech and perhaps a more than normal number of infections. All children at this age take a little while to develop good walking skills, coherent speech and an effective immune system so it may be some years before A-T is properly diagnosed. On top of the severe physical disabilities children with A-T must face, 1 in 4 children with A-T will develop cancer or sever lung disease and more than half will die before they are out of their teens. Although rare, researchers such as Professor Steve Jackson at the Gurdon Institute, Cambridge University believe that studying diseases like A-T offers the potential to open up health care improvements for more prevalent conditions such as cancer, lung disorders and Alzheimer’s. PREVELANCE It is estimated that 1 in 100 people carry the defective ATM gene known to be responsible for causing A-T. This translates to 1 in 400,000 children having the condition. A-T respects no gender, race or geographic boundaries and although global statistics are currently unavailable, there are 170 known cases of the condition in the UK. It is estimated that there are several thousand children worldwide with the condition. These children would all benefit from any medical advancement that came about as a result of any A-T related research. ABOUT ACTION FOR A-T – www.actionforAT.org Action for A-T is a Surrey based charity which was established in 2012 by parents whose daughter was diagnosed with the rare condition Ataxia Telangiectasia (A-T). Our mission is simple, we aim to speed up the process of identifying a cure for A-T or treatments that delay or prevent the disabling effects of this devastating childhood condition. We do this by promoting, seeking and funding high quality peer-reviewed medical research both in the UK and around the world. Since 2012 we have funded or co-funded 16 A-T related research projects around the world and established our own highly qualified multi-disciplinary medical advisory and peer review panel. Our grant management and application process has led us to achieving certification with the national Association of Medical Research Charities (AMRC) and we actively seek out research funding opportunities from within the A-T research community.
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