Research Training Fellowship: Dr Ben Underwood
This research was completed on 30 September 2010
Published on 27 May 2007
Taking on Huntington's disease
Each year, Action Medical Research awards these prestigious grants to help the brightest and best doctors and scientists develop their career in medical research. Dr Underwood’s grant of £193,442 will fund his three-year search for new ways to tackle Huntington’s Disease.
Though still young, Dr Ben Underwood already has a long list of awards to his name. After being deeply moved by the plight of his first patients – elderly people with dementia – he is determined to find better ways to treat diseases of the brain. In this Fellowship, Dr Underwood is focusing on Huntington’s disease, a devastating inherited condition.
Typically, sufferers die in their middle age after enduring a heartbreaking, 15-year deterioration in their physical and mental well being. Dr Underwood is searching for ways to delay the onset of Huntington’s disease, under the supervision of a world-leading Cambridge Professor.
Huntington’s disease is a terrible condition – it is hard not to feel deep sympathy for every patient. I hope my studies will ultimately make a real difference to patients and their families, and would like to give Action Medical Research my grateful thanks for making this work possible.Dr Ben Underwood
Huntington’s disease can devastate people’s lives
The first symptoms of Huntington’s disease, which include subtle changes in personality or mood, and occasional jerks or spasms, normally begin at around 40 years of age. ‘People are afflicted just as they are reaching their prime, in both their working and family lives,’ explains Dr Underwood. Sufferers gradually become increasingly disabled, eventually having to give up work. They lose the ability to walk, abnormal movements increase and talking becomes difficult.
When dementia becomes more advanced, most need full-time care. The condition can also cause profound changes in behaviour – for example, sufferers can lack drive and seem irritable or depressed – which can put extreme pressure on relationships with loved ones. Huntington’s disease affects around 1 in 15,000 people.1 There is no cure and no treatment that can alter the disease progression.
Sadly, most people die within 15 to 20 years of noticing their first symptoms. ‘Particularly cruelly, Huntington’s disease runs in families,’ says Dr Underwood. ‘Many sufferers have seen a parent die of the same disease and have some idea of their own fate. Worse still, they have a 50:50 chance of passing the disease on to their own children. One can only imagine the distress that they endure.’
Could we slow down the disease process?
Researchers identified the faulty gene that causes Huntington’s disease in 1993. Almost everyone who has this faulty gene is expected to develop Huntington’s disease at some time in their life. It seems that other, currently unidentified genes may also affect how old people are when they first develop symptoms, how quickly their disease progresses and how severe it is.
Dr Underwood is trying to pinpoint these genes and find out how they work. He hopes to identify whether the genes, or their products, are suitable targets for drug treatment and perform preliminary laboratory studies of the affects of candidate drugs. ‘Helping to develop an effective treatment for Huntington’s disease would be fantastic,’ says Dr Underwood. ‘It would make my whole professional career worthwhile.’
|Project Leader||Dr B R Underwood|
|Location||Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge University and Addenbrooke's Hospital|
|Grant awarded||27 February 2007|
|Start date||1 October 2007|
|End date||30 September 2010|
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Towards new drugs for Huntington’s
Dr Underwood hopes to provide detailed information about the genetic factors that influence the progression of Huntington’s disease. This information could prove invaluable in the effort to develop treatments that slow down the disease process. ‘My research is in the early stages, with a huge amount of work needed before patients might directly benefit,’ explains Dr Underwood.
‘But ultimately, it may be possible to use a combination of drugs to delay the onset of Huntington’s disease by several decades – possibly even beyond the normal human lifespan. This would effectively provide a cure. An effective treatment would make a dramatic difference to patients’ lives. It would alleviate a huge physical, psychological and economic burden.
In some ways, Huntington’s disease is similar to other brain diseases, including other forms of dementia and Parkinson’s disease. Successful treatments may prove helpful for treating these illnesses as well. The Fellowship is also a vital first step in Dr Underwood’s plan to be an academic psychiatrist – combining day-to-day contact with patients with laboratory research in the battle to overcome disease.
‘The Research Training Fellowship from Action Medical Research is a fabulous boost to me professionally, says Dr Underwood. ‘I would not be able to research ways to reduce patient suffering without schemes such as this one.’
Huntington’s disease is an inherited condition, which causes progressive damage to the brain. A genetic test for the gene for Huntington’s disease is already available. Variations in this gene can explain some of the differences in how old people are when they notice their first symptoms – most are 35 to 40 years old, but a few are affected in childhood and others remain healthy until old age.
Other, currently unidentified factors – probably environmental and genetic – also seem to affect the age of onset, as well as the speed with which the disease progresses, and the severity and nature of the different symptoms. So, in his Fellowship Dr Underwood is searching for other genes that have an influence on Huntington’s disease. He will be supervised by Professor David Rubinsztein of Cambridge University.
‘I am enthused by the opportunity to work with the Rubinsztein group as they are world leaders in the field of Huntington’s disease. The project design is exceptionally good and the laboratory is well set up to provide first-class training for me. I am determined to succeed,’ says Dr Underwood.
I am determined to succeedDr Ben Underwood
1. McCusker EA, Casse RF, Graham SJ, Williams DB and Lazarus R. Prevalance of Huntington’s Disease in New South Wales in 1996. Med J Aust. 2000. Aug 21;173(4):187-90