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Press release

  • 3 September 2008

Wellcome funding to aid research into genetic diseases

MRI scan showing brain shrinkage caused by genetic disease

MRI scan showing brain shrinkage caused by genetic disease

A £650,000 grant from the Wellcome Trust will help fund genetic research at the University of Sussex that could lead to improved treatment for diseases that affect motor coordination in humans (eg hereditary ataxia) and perhaps normal human ageing.

The research, conducted by Dr Sherif El-Khamisy in the Sussex Centre for Genome Damage and Stability, will focus on proteins involved in the repair of faults in DNA - the genetic material in our cells and all other living organisms.

The most common fault to occur spontaneously in DNA is called Single Strand Breaks (DNA being composed of two twisted strands).

Failure to correct these breaks has been shown to lead to neurodegenerative disorders (those that attack the nervous system). This has been demonstrated in the case of two rare hereditary conditions of the nervous system, where a deficiency of certain proteins causes the repair mechanism to fail.

Dr El-Khamisy says: "By understanding DNA repair mechanisms, not only can we employ more effective treatments against disease but also improve the assessment of the risk factors that might lead to disease."

Recent work has led to the idea that the repair of SSBs is particularly important for neurons (nerve cells).

The proposed research will look at the cellular mechanisms that control SSB repairs in neurons and will determine the impact of the loss of these mechanisms on specific aspects of neurological function.

Dr El-Khamisy says: "Addressing these questions will not only determine the importance of SSB repair for preventing neurodegenerative disease but might also identify new markers for improved assessment and treatment of such diseases, and perhaps even normal human ageing."

Notes for editors

The Wellcome Trust is the largest charity in the UK. It funds innovative biomedical research, in the UK and internationally, spending over £600 million each year to support the brightest scientists with the best ideas. The Wellcome Trust supports public debate about biomedical research and its impact on health and wellbeing. See:


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