Here we learn more about Dr. Stefánsson’s inspiration:
What inspired you to study human genetics?
As John Lennon said, “Life is what happens to you while you’re busy making other plans.” After many years studying neurology, I suddenly found that human genetics had become my principle focus. Our attributes are rooted in the information that lies within our DNA, and I began to realise that we could systematically study pathogenesis if we approached it from the perspective of the genome.
At that time, the main concept was to develop animal models and then transfer what you learned in animals to humans. But soon after I started to work full time on human genetics, I realised that studying human diversity directly could also unlock important information about why some people were more susceptible to certain diseases than others. We have since been able to expand our study of human diversity into transcriptomics, proteomics and metabolomics to look even deeper into human diseases.
What are your main career achievements to date?
deCODE was set up to mine the unique genetic make-up of the Icelandic population. We wanted to gather as much information as possible about this one population and collect data that are independent of the questions we would ask. I’m proud to have established this paradigm and to have shown that it works. And our population-based model has served as a template for other countries – there are now many national genome projects around the world providing further information on genetic disposition and the development of disease.
What opportunities lie ahead?
Since single nucleotide polymorphism chips were discovered, we have been able to perform hypothesis-independent searches for genome variances associated with disease. But there is a gap to fill – the gap between the genome and the clinical phenotype. A key part of this gap lies at the level of proteins. It is extremely important to be able to study proteomics in the same hypothesis-independent manner as we are doing for genomics. Current technology is beginning to allow us to do this; it is my prediction that advances in proteomics will lead to another explosion in discoveries related to diseases and their development.
What advice would you give to young researchers?
When you are working your way from a question to an answer in science, you are going to pass several crossroads where wishful thinking can pull you in different directions. I think it is incredibly important to be honest with yourself, your colleagues and the field in general. Honesty is one attribute that a good scientist cannot be without.
What motivates you?
I am motivated by curiosity and the desire to know, and of course, if the work you are doing could potentially benefit humanity through improved healthcare, then that is an amazing bonus.