New technology could shed light on treatment of rare genetic condition

rare genetic condition MRI scanner
28 Nov 2013 14:05:27.900

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Three charities have joined forces with The University of Nottingham to secure funding for a study that will use new technologies to shed light on the life-shortening condition Ataxia Telangiectasia (A-T).

Dr Robert Dineen and Professor Dorothee Auer from the University are leading a team of experts who will use the latest techniques in MRI scanning to look at the brains of children with the rare genetic condition.

The two-year project, which is called the CATNAP study (the Children's Ataxia Telangiectasia Neuroimaging Assessment Project), is a collaboration between the University and the Nottingham Children's Hospitals, and was developed with the support of the UK A-T Society and is being funded by the ‘A-T Children’s Project’ and UK ‘Action for A-T’.

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A-T is a devastating disease of children and young adults, which progressively affects their co-ordination and ability to carry out normal everyday activities. Those with the condition have a high incidence of life threatening diseases, particularly cancer and lung disease. Many die before their mid-twenties and there is currently no cure.

The aim of the study is to develop biological markers which would measure the underlying disease process and help to assess whether new treatments work.

If the research team is successful in identifying these markers then they will have new diagnostic tools to assess the progression of the disease. These indicators can then be used to monitor children with A-T undergoing experimental treatments.

Dr Dineen, Clinical Associate Professor at The School of Medicine at the University said: “The challenge lies in the fact that A-T is a rare and poorly understood condition. However, the University is in a unique position in the UK to carry out this research. Although America has a much bigger population and therefore have more children suffering with A-T, these children are scattered all across the country.

“In the UK, and due to its National Clinic, Nottingham researchers are able to pull together more children with A-T to involve in the study than would be practically possible anywhere else, leading to the biggest study of its kind in the world.”

The A-T Society will help publicise the study, and help with recruitment and sending study information to members

William Davis from the A-T Society said: “The A-T Society welcomes this project very warmly. As with almost all neurodegenerative conditions, research to find a cure for A-T is held back by the fact that we do not yet understand what is happening in the brains of sufferers. This project brings together a highly skilled team, the latest technology and the clinical understanding of the world’s longest-established A-T clinic in Nottingham. It has the potential to make great strides forward in our understanding of the condition and to unlock possible ways forward to finding a cure.”

Nearly £100,000 was awarded by the charities. The University’s partnership with Nottingham Children’s Hospital, which hosts the UK National Children’s A-T Clinic, is one of the reasons the funders chose to support the University along with the expertise of its researchers in neuroimaging research and in the assessment of children with A-T.

Tania Wheeler, Action for A-T Researcher Co-ordinator said: “We are delighted to be co-funding this high quality UK research study with the A-T Children’s Project. It is hoped this research can address gaps in our understanding of the neurological symptoms associated with A-T and identify indicators to measure the presence and progress of this disease. It could also lead to more accuracy in future clinical trials.

“Action for A-T welcomes the opportunity to work with others. Collaboration and partnership along with the expertise of the doctors and scientists at Nottingham gives us the best chance to achieve maximum impact.”

This research project will recruit 30 patients from the UK National A-T clinic and 20 children without A-T who will all undergo advanced magnetic resonance imaging (MRI).

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Charlotte Anscombe – Media Relations Manager (Arts and Social Sciences)

Email:  Phone:+44 (0)115 74 84 417 Location: University Park

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