One Minute Insight
To try and understand diseases such as liver disease and inflammatory bowel disease, Professor Arthur Kaser discusses how our researchers are investigating what causes them to occur so they can develop novel treatments to help people.
IBS affects around 1 in 10 people and causing symptoms such as abdominal pain, bloating and bowel dysfunction that can significantly affect people’s lives. Causes of IBS are not well understood but researchers have now identified several genes that provide clues into the origins of IBS.
In a large international study of more than 50,000 people with IBS, research teams from more than 40 institutions looked at genetic data from people who suffer with IBS and compared them to people without IBS (controls). The findings were repeated with de-identified data from people who have consented to research, again, people with IBS to those without.
The results showed that overall, heritability of IBS (how much your genes influence the likelihood of developing a particular condition) is quite low, indicating the importance of environmental factors such as diet, stress and patterns of behaviour that may also be shared in the family environment.
However, 6 genetic differences were more common in people with IBS than in controls. Researchers found most of the altered genes appear to have more clear-cut roles in the brain and possibly the nerves which supply the gut, rather than the gut itself.
The team also looked for overlap between susceptibility to IBS and other physical and mental health conditions. They found that the same genetic make-up that puts people at increased risk of IBS also increases the risk for common mood and anxiety disorders such as anxiety, depression, and neuroticism, as well as insomnia. However, this doesn’t mean that anxiety causes IBS symptoms or vice versa.
Read the full press release from November 2021.
IBD is a term used to describe two conditions, Crohn’s disease and Ulcerative Colitis. These lifelong illnesses mostly affect young adults and flare at intervals, producing debilitating symptoms including cramping abdominal pains, anaemia, weight loss and diarrhoea.
Previous Cambridge research showed that studying an immune cell called a CD8 T-cell could help doctors to identify which patients would go on to experience more aggressive disease and which patients would have a better outcome. This initial technical approach, however, is too complicated to be performed in routine clinical use.
Looking at nearly 70 people with the condition, the team developed a simpler blood test – using a method that is widely available in the NHS called qPCR – to identify the same patient subgroups as were found using the more complicated CD8 T-cell test.
They found the test was able to predict the strength of the condition in the patient and a patient’s likely outcome. This research can now help newly diagnosed people with IBD to identify the strength of their disease and enable their doctors to provide a personalised treatment plan – ensuring they receive the medication that is right for them, rather than a ‘one size fits all’ approach.
The research has been so successful that the test has been licenced by Cambridge Enterprise to a company, PredictImmune Ltd, who are making it available to patients in the UK to provide better outcomes, while in parallel it is being assessed by NICE to determine whether they recommend it can be used in the NHS.
Identifying those at risk from liver failure
Primary biliary cirrhosis (PBC) is an autoimmune disease of the liver. When something doesn’t work properly in the immune system it attacks healthy tissue instead of protecting the body from infection. Patients diagnosed with PBC have cells that target the liver scarring it, therefore causing serious problems.
Researchers from Cambridge wanted to understand PBC, how it affects patients and whether they would be able to predict those who would be at risk of liver failure.
Working alongside the NIHR BioResource – a resource of thousands of volunteers who wish to take part in research, researchers looked at a group of 2,000 patients with PBC who use ursodeoxycholic acid (UDCA) to help with their condition.
From studying this large group of people and samples given, they were able to identify high-risk patients who could go on to develop liver failure and would need a liver transplant within the next 15 years.
After further investigations, researchers created an accurate scoring tool to identify patients at risk. Clinicians can now recognise patients who need to be closely monitored, or who may need extra therapies and identify those who are appearing as low risk.
The Risk Score Calculator has been adopted as part of national guidance from the Advisory Committee for the Safety of Blood Tissues and Organs and many hospitals are now using the tool.