By Dr Roland Zauner

My name is Dr Roland Zauner. I’m a post-doctoral researcher in the working group of Assistant Prof Dr Verena Wally at the EB House Austria in Salzburg.

 

Which aspect of EB are you most interested in?

The skin tumours that form early in the lives of people living with recessive dystrophic EB (RDEB) are hard to detect in time to provide effective, life-saving treatment. This, coupled with the fact that limited treatment options are available, has driven us to explore new ways to identify drugs that can be repurposed for the treatment of EB cancer. To achieve this goal we are employing new methods that use our understanding of what causes tumour growth at the level of genes and proteins within individual cells. This allows us to identify weaknesses of tumours that can be targeted by already known drugs, in order to slow or stop the growth of tumours.

 

What difference will your work make to people living with EB?

Our goal is to test whether we can use existing drugs called statins, to slow tumour growth. Statins are commonly used to treat high cholesterol levels in people at risk of heart attacks and strokes. We have already been able to show that repurposing statins to target cancer cells grown in our laboratory is a promising approach. Next, it’s crucial to better understand how the drug actually interferes with tumour-related genes and proteins inside the cells, and how well our approach works in more complex tumour models. Certainly, obtaining this additional evidence is an important step before a potential clinical trial for people living with RDEB skin cancer in the future.

The advantage of testing established drugs for a new condition, a strategy known as drug repurposing, is that these drugs have already been extensively tested for safety and may be widely available and cheap to produce. Testing to determine safe doses and any side effects is the first step in clinical trials of any brand-new drug. This happens in healthy volunteers before a trial to find out if it can actually reduce patients’ symptoms. This first phase of safety testing can take years but is skipped when repurposing drugs. Therefore, EB patients would benefit from a much quicker development process and, in the case of statins, a cost-effective treatment option.

 

Who/what inspired you to work on EB?

I already had the opportunity to work on topics related to tumour development in EB during my Master's thesis and continued to do so during my PhD, inspired by Associate Prof Dr Verena Wally. What particularly impressed me was the opportunity to work in a field where you can make a meaningful contribution to improving patients’ lives through research. It is extremely motivating to work closely with people living with EB, their families, and the physicians and nurses on a daily basis at the EB House Austria.

 

What does the funding from DEBRA UK mean to you?

We are very grateful for the opportunity provided by DEBRA UK to further investigate the potentially beneficial effect of using a cholesterol drug (statin) to treat EB tumours. Especially in the case of rare diseases, it’s a challenge to identify new possibilities for therapy. This makes the support of patient organisations such as DEBRA UK all the more important, in order to be able to test new approaches for EB tumour therapy.

 

What does a day in your life as an EB researcher look like?

In addition to the lab work, I’m mainly involved in bioinformatic data analysis. This means using computers to compare gene sequences and information about which proteins are being made by which cells at what time. With modern technology, we can generate huge amounts of information from tiny patient samples and the cells we grow in the lab. It’s both fascinating and challenging to gain new insights into how these genes and proteins contribute to tumour development. Crucially, these are the insights that we can use to develop and establish new therapies. Of course, there are daily challenges to overcome and problems to solve, whether in experiments or in interpreting data and results. This makes it vital to have an inspiring environment and a motivated team, and to have the chance to exchange ideas with international experts and stakeholders.

 

Who’s on your team and what do they do to support your EB research?

My role in this project focuses on bioinformatic data analysis, data interpretation and reporting of results. A new researcher will join our team to carry out the experimental laboratory work for this project. I’ll be supervising the project with the support of highly experienced co-supervisors Dr Christina Guttmann-Gruber and A/Prof Dr Verena Wally. They both have a long-standing interest in EB research and specific valuable knowledge of tumour biology and models, as well as drug repurposing.

 

How do you relax when you’re not working on EB?

I love traveling and exploring different countries and cultures, and I'm a big fan of Australia and New Zealand. Salzburg offers beautiful recreational opportunities in the mountains and surrounding lakes and I am currently working on my sailing skills.

 

What these words mean:

Data = recorded observations that can be studied and analysed.

Statin = medicine currently used in the UK to reduce cholesterol levels and decrease risk of heart attack and stroke.

Cholesterol = a natural fatty substance in blood that can stick to the insides of blood vessels and cause narrowing and blockages.

Tumour = cancer cells that continue to grow and divide when they shouldn’t.

Bioinformatics = using computers to compare biological information such as gene sequences.

 

An explanation of bioinformatics:

  

 

Full glossary of scientific terms