Eosinophilic oesophagitis: Maynooth researcher gets to grips with rare disease

20 Nov 2019

Dr Joanne Masterson, Maynooth University. Image: Daniel Balteanu

Dr Joanne Masterson of Maynooth University is currently researching eosinophilic oesophagitis, a rare disease that’s getting less rare.

Dr Joanne Masterson completed an undergraduate degree in biology and maths at Maynooth University. This was followed by a research internship at Proctor and Gamble in the UK, and later stints at labs in Dublin and the University of California, Davis.

She then obtained a PhD for her work in investigating proliferation and differentiation processes in lung epithelial cells, which saw her take up postdoctoral training at the University of Colorado.

After 10 years in the US, she joined Maynooth University to build a research programme investigating allergic diseases. She is also a member of the Kathleen Lonsdale Institute for Human Health Research to study key determinants of human health, accounting for environmental, psychological, behavioural and biological factors.

‘Because it is a rare disease, you often get the opinion that it doesn’t really affect very many people so therefore it is not a significant problem. That is not the case’

What inspired you to become a researcher?

Growing up, I was always intrigued by human health and the sad and almost inevitability of human disease. Three of my grandparents passed away before I was born due to diseases that we now can treat much more effectively.

I was always a “but why?” and a “but how?” child. I couldn’t understand why they were not with us. I always wanted to know more and this drew me to the sciences.

Through the support of a Health Research Board Summer Studentship award, I spent an undergraduate summer under the mentorship of two wonderful professors, Dr Derek Doherty, an immunology lecturer in Maynooth at the time, and Prof Cliona O’Farrelly, then at the Education Research Centre at St Vincent’s Hospital.

That experience was transformative for me. I was ‘bitten by the bug’ and focused on developing a career in academic research.

Can you tell us about the research you’re currently working on?

My current research is focused on a rare and emerging disease called eosinophilic oesophagitis (EoE). It is a food allergy with symptoms involving the oesophagus.

This research focus began when I went to Denver and I was introduced to a paediatric gastroenterologist who cared for patients with this disease. After spending an hour with him, asking him “but why?” and “but how?”, I realised there was an almost blank canvas upon which science and research needed to be ‘painted’.

It became clear that patients with EoE, and their families, had a very poor quality of life with limited treatment options. I felt it was a very important area where more research could benefit people’s everyday lives.

In your opinion, why is your research important?

This is a rare disorder that has not been widely investigated. This research is also very important as there are a relatively limited number of treatments available and advances need to be made in addressing the issues at the bedside for patients.

Importantly, as the broken epithelial barrier has a major role in all allergic diseases of the gut, skin and lungs, our mechanistic research has major translational potential to uncover new therapeutic drug targets in a medical field where patients have limited options.

What commercial applications do you foresee for your research?

Currently, there is only one European Medicines Agency-approved drug available to patients and that is steroid based. There is an emergent need for new knowledge relating to the pathophysiologic mechanisms of this disease.

That knowledge will bring opportunities for new drug therapies, and also the repurposing of existing drugs which are currently being used to treat other diseases. In that vein, a number of drugs are emerging in the hypoxia/oxygen sensing pathway that could eventually translate to EoE.

What are some of the biggest challenges you face as a researcher in your field?

I think because it is a rare disease, you often get the opinion that it doesn’t really affect very many people so therefore it is not a significant problem. That is not the case. One of my challenges has been to engage both doctors and patients, and actively get them involved in the research so together we can make more meaningful advances.

Funding can also be a challenge, as you might expect, when looking to develop research that might only impact a relatively small population of patients.

Are there any common misconceptions about this area of research?

The most common misconception is that EoE is not a big problem, when really it is and it is continuing to increase in prevalence. While it’s currently classified as a rare disease, the rates of diagnosis are increasing worldwide and at levels comparable to more common diseases such as Crohn’s disease.

The greatest way we can address those misconceptions is through increasing scientific and clinical knowledge of the disease. This can be done through research and disseminating this to the public, which is exactly what we are doing now by engaging with patients, society and doctors.

What are some of the areas of research you’d like to see tackled in the years ahead?

I think the area of allergy in its entirety is an important focus for future research. EoE is part of that allergic disease cluster.

Patients who are diagnosed with EoE will often have been previously diagnosed with other atopic diseases such as asthma and dermatitis. Current clinical trials are largely focused on targeting the immune system, but we are looking at this disease through the lens of the broken epithelial barrier, be that of the lung, the skin or the oesophagus.

By knowing more about the interrelating mechanisms of allergic diseases such as barrier dysfunction, we are likely going to be able to help the broader atopic population.

Are you a researcher with an interesting project to share? Let us know by emailing editorial@siliconrepublic.com with the subject line ‘Science Uncovered’.