What is your name, nationality, current function, and department?
My name is Tom Tomkiewicz. I was born in Poland but I grew up in Ireland. I am in the 4th year of my PhD. I work in the department of Human Genetics at Radboudumc in the group of Rob Collin and Alex Garanto. My project is about developing molecular therapy for inherited retina disease known as Stargardt disease.
What is the topic of your PhD project and what does your work look like in practice?
My topic is Stargardt disease. It is a form of inherited blindness caused by the ABCA4 gene. Stargardt disease has juvenile onset and the progression of blindness gets worse with time. Significant proportion of pathogenic variants in ABCA4 alters pre-mRNA splicing and it is my job to correct some of the more recurrent splicing-affecting variants. In my project I try to develop splice modulating therapy using antisense oligonucleotide. These are short synthetically produced RNA sequences that can attach themselves to the pre-mRNA and restore correct splicing. My work involves studying RNA splicing dynamics and testing antisense oligonucleotides in cell models that express retina phenotype.
What did you want to be when you were younger?
I wanted to be a fire-fighter and then I wanted to be a historian and archaeologist.
What has your career path been so far and how did you come to your current position?
I always liked biology. After I completed my BSc in Medical Science I got a job in a diagnostics laboratory but I quickly realised that I wasn’t really excited about that type of work. When I entered my MSc degree I really became invested in genetics and started thinking about it as a possible career path. Before the end of my MSc in Molecular Medicine from Trinity College Dublin in Ireland I was already looking for a PhD project. Thanks to the series of lectures at Trinity, on gene therapy development for retinitis pigmentosa, the field of inherited retina disease was already on my radar and when I saw job opening in the group of Rob Collin and Alex Garanto I decided to take my chance and I’ve never regretted this decision.
What excites you about working in science?
I like working in the sciences because the field forces you to ‘think the right way’. I think this is a very useful skill that can be used outside of the scientific world and applied to everyday situations, not to say that scientists are completely immune to logical fallacies.
Working on a project focused on therapy development is also very rewarding. When I feel down and unmotivated, I always try to remind myself that my work down the line will help young people affected by blindness. It is a great motivator to get me out of bed even on a rainy day.
What aspect of your job is or has been a challenge for you?
I think dealing with negative data and negative results have been the most challenging for me. I think it is because we invest a lot of time developing and optimizing the therapeutic molecules and then testing them. This creates a strong emotional attachment and when things don’t go as planned it is hard to accept it sometimes.
What is your favourite book and why?
I enjoyed a series of books written by Carlos Ruiz Zafon, where the story is set in Barcelona during the 1920s and 1930s. I also enjoyed Plato’s republic. I noticed that with time I drifted away from novels and read more history and social science books.
What is the most important advice you want to share with Donders PhD candidates?
I would place an emphasis on ‘it is not the end of the world if things don’t go as planned’. It is all about the ability to adapt and not giving up when facing disappointment.
What are you looking forward to in life?
Right now, definitely getting my PhD. Afterwards, I hope I will be able to come back home to Ireland for a break before starting my next adventure. Maybe squeeze some travelling before starting a postdoc…I’d like to visit Romania and parts of the Eurasian steppe.