Research Training Fellowship: Dr Rachel Cooney | Children's Charity

Research Training Fellowship: Dr Rachel Cooney

This research was completed on 31 March 2009

Published on 27 May 2007

Hunting for genes for Crohn’s disease and ulcerative colitis

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 Cooney’s grant of £129,012 will fund her two-year study into the causes of Crohn’s disease and ulcerative colitis.

Introduction

When Dr Rachel Cooney specialised in gastroenterology, she was shocked to discover the dearth of treatment options available to people who suffer from the two main inflammatory bowel diseases – Crohn’s disease and ulcerative colitis. Many of her patients suffered debilitating symptoms, which can have devastating effects on their whole lives.

In this Fellowship, dedicated Dr Cooney aims to boost our understanding of the causes of inflammatory bowel disease by looking for faulty genes. She hopes that her findings will help in future efforts to develop better, more specific or even curative treatments.

I am thrilled that Action Medical Research has awarded me this Fellowship. I hope that my research will help unravel the causes of Crohn’s disease and ulcerative colitis, so that we can go on to develop better treatments for these awful diseases.

Dr Rachel Cooney

The problem

Debilitating symptoms that go on and on

‘Crohn’s disease and ulcerative colitis cause chronic inflammation of the gut and can make life truly miserable for the one in 400 people affected in the UK,’ explains Dr Cooney.1 Many people endure debilitating and embarrassing symptoms.

It’s common for sufferers to have intense abdominal pain, fever, exhaustion, joint pains and severe diarrhoea, even passing blood. They must also cope with the negative effects that their poor state of health can have on their professional and family lives.

Most people are between 15 and 25 years of age when they develop inflammatory bowel disease, with a second smaller peak between 50 and 80 years.2 Sufferers do normally experience periods of remission, when symptoms ease, though symptoms can return unpredictably. And even when people are in remission, they often feel fatigued, suffer occasional bouts of diarrhoea and pain, and have to be cautious about what they eat.

‘Sadly, there is no known cure for Crohn’s disease, and major surgery to remove the bowel is the only curative hope for people with ulcerative colitis,’ explains Dr Cooney. ‘Many people therefore have to take long-term medication, with all its associated problems, to help manage flares and try to keep them in remission

The research

The gene hunt

Close relatives of people with inflammatory bowel disease are at increased risk of developing the illness themselves, which suggests that genes play a role in the disease process. Indeed, researchers have recently discovered that a gene called NOD2 is associated with some cases of Crohn’s disease.

Dr Cooney is eager to expand on the recent advances in understanding. ‘I hope to detect more of the specific genes that can cause inflammatory bowel disease, and to understand the role that these genes have in the disease process,’ she says.

Dr Cooney is performing sophisticated laboratory analyses of DNA from 600 people who have Crohn’s disease, 650 people with ulcerative colitis and 1,100 healthy volunteers.

Project LeaderDr R M Cooney
LocationWellcome Trust Centre of Medicine, Nuffield Department of Clinical Medicine, John Radcliffe Hospital
Grant awarded27 February 2007
Start date1 April 2007
End date31 March 2009
Grant amount£129,012.00
Grant codeRTF1278

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Who benefits

Revealing information of fundamental importance

If Dr Cooney is successful in her search for faulty genes that can cause inflammatory bowel disease, then everyone who has developed Crohn’s disease or ulcerative colitis because of those genes stands to benefit in the future. Dr Cooney hopes her findings will help to guide further studies. It’s too early to say exactly what benefits may come of these studies, but they may help to improve diagnosis, allow us to predict how each person’s disease is likely to develop, facilitate the development of new drugs and allow treatments to be tailored for each individual.

Onwards and upwards

On a more personal level, Dr Cooney is delighted by the opportunities that her Fellowship is bringing. ‘I’d love to continue working as a clinician-scientist, striving to answer the many questions that still face us about inflammatory bowel disease,’ says Dr Cooney. ‘I am very humbled to think that my work may ultimately help to alleviate.

More details

It’s long been thought that a person’s genetic make-up can influence their chances of developing inflammatory bowel disease, as well as how old they are when they develop their illness and how severe their symptoms are. In 2001 came the important discovery that faults in a gene called NOD2, or CARD15, can increase a person’s susceptibility to Crohn’s disease.

It’s likely that many other genes are also important, so Dr Cooney is trying to identify more of these genes. Her work is taking place at prestigious centres within Oxford University, under the supervision of leading Professors. ‘Working in Oxford gives me every opportunity for success,’ says Dr Cooney. ‘The breadth of expertise and the facilities available to me are amazing.’

Preliminary studies at Oxford, of DNA from patients with Crohn’s disease and ulcerative colitis, suggest that variations in three genes on Chromosome 19 – known as EMR1, EMR3 and CD97 – may be important. Dr Cooney is performing a much bigger study, of DNA from 2350 people, to clarify whether faults in these genes can lead to disease, and identify the mutations that are important. She is also trying to determine how the normal, and faulty, versions of these genes function.

I am thrilled that Action Medical Research has enabled me to work towards new treatments for inflammatory bowel disease, so that one day sufferers of this miserable disease may have a better quality of life, free from their disabling symptoms.

Dr Rachel Cooney

References

  1. Carter MJ, Lobo AJ, Travis SP; IBD Section, British Society of Gastroenterology. Guidelines for the management of inflammatory bowel disease in adults. Gut. 2004 Sep;53 Suppl 5:V1-16.
  2. Loftus EV Jr, Silverstein MD, Sandborn Wj et al : Crohn’s disease in Olmsted County, Minnesota, 1940-93: Incidence , prevalence, and survival. Gastroenterology 1998;114:1161.
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