Revealing the earliest signs of oesophageal cancer
The team, led by Dr Diana Blaydon and Professor David Kelsell, are studying how a rare genetic disease causes the most common type of oesophageal cancer. They hope that revealing previously unknown early signs of the disease will help more patients be diagnosed and treated sooner.
Hope for the future
Oesophageal squamous cell carcinoma (OSCC) is an aggressive form of oesophageal cancer that is often diagnosed only once the cancer has already spread. This means survival rates for OSCC are much lower than some other cancers. Understanding the early stages of OSCC is important so that patients can be diagnosed and treated earlier than is currently possible.
Dr Blaydon, Professor Kelsell, and their team are studying a rare disease called tylosis with oesophageal cancer (TOC), which is linked with an increased risk of developing OSCC. By analysing how TOC causes OSCC, the researchers hope to identify early changes that can help us diagnose and treat OSCC patients sooner. This could mean more patients surviving longer as earlier treatments often work better.
Meet the scientist
Dr Diana Blaydon's first research job was in a genetics lab - she has studied rare, inherited conditions for many years. Knowing that the work she does can make a real difference to people's lives is very motivating to her, and she says "there's no better feeling than the answer to a question being revealed through your own experiments".
Outside of the lab, Dr Blaydon loves to travel and try new foods, both whilst travelling and through cooking at home - Korean rice bowls are currently a favourite, though she hasn't managed to visit Korea yet!
TOC is a rare disease caused by specific mutations to a gene called RHBDF2. A patient with TOC has a much higher chance of developing OSCC – by the age of 70, there is a 90% chance they will develop the disease. Some cancers caused by inherited genetic changes tend to happen earlier in life than if they had happened by chance in a patient without the mutation, however that is not the case for TOC – most patients who develop OSCC do so around the same age as other patients. This suggests it could be a good model for studying the earliest stages of OSCC.
Dr Blaydon, Professor Kelsell, and their team are using TOC to study the early stages of OSCC in two ways. First, they will use biopsies from patients with TOC to study how OSCC first appears in human tissue. They will look for biomarkers that might be important for the earliest stages of OSCC. Second, they will use mice with TOC and study how cancer first appears in this case, including any early-stage markers they can find that could then be used as new ways to detect or diagnose OSCC.
The funding from Worldwide Cancer Research allows us to carry out very important experiments that will give us lots of data on the early processes involved in the development of oesophageal squamous cell carcinoma (OSCC). The hope is that this project will reveal novel biomarkers that can eventually be translated into clinical practice to allow early detection of OSCC.Dr Diana Blaydon
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