Bioinformatics student Rick de Reuver received a nomination for the HAN Studentprijs 2010 for his research on the causes of the Schinzel Giedion syndrome. In this interview, Rick elaborates on his research and his study. The group at the Radboud University where Rick worked discovered the genetic defect that causes the Schinzel Giedion syndrome. The results were published in Nature Genetics and Rick became a co-author.

Can you tell us something about the collaboration in your research group?

‘As a bioinformatician, you are always working in a multidisciplinary team. Therefore you are constantly learning from your colleagues and vice versa. By working this way all experiences add up and can be combined in a succesfull project. But we also met regularly after working hours to have lunch, play poker or grab a beer.’

What did you learn during your internship?

‘One thing I learned is that this kind of research can be very satisfactory. Small genetic defects can have a major effect on a persons health. Being confronted with patients suffering from the Schinzel Giedion syndrome was very impressive. Being able to contribute to the understanding of the disease, therapies can be developed and parents can be properly informed on the health risks for future children.’

How did your friends and family react to the results of your research?

‘To fully understand their reaction you should know something of my personal life. A few years ago I suffered from severe health problems. Because of some muscle malfunctions I was hardly able to walk or even breathe. It took three major operations and a few years of rehabilitation to overcome these problems. When I started my bioinformatics education, I wasn’t even sure if my health allowed me to complete it. It ended up very well. From the starting point, my grades were superb and all courses proved to be very interesting. Reflecting on my situation only six years ago, I’m so grateful for this opportunity and my results!’

What can we expect from you in the future?

‘Since the start of my education I knew wanted to do research on genetic defects. My final internship will take place next year in New York. There I will conduct research on newly found genes that are linked to dystonia, the syndrome from which I suffer myself. There are many forms of dystonia and although the gene that is the cause of my form is known, many others are still unknown. Looking further, I dream of leading my own research group. I realise that I still have a long way to go and that I will have to put all my effort in it. But first I need to work on my graduation!’