"Genetics is the only way to systematically study human nature. So we came to the conclusion that the way to study human diseases and other aspects of human nature would be to study human diversity", says Kári Stefánsson, who, when asked what he is most excited about in his ongoing research, responds, "always my latest discovery."
One pivotal moment in his scientific journey occured 28 years ago when he returned to Iceland with a new vision. Instead of focusing on a specific group of individuals with a certain disease, Kári Stefánsson changed the approach by gathering data from the whole population. This decision proved to be a transformative one.
"In the end, this approach allowed us to look at whatever disease we were interested in."
All depends on proteins
Human diversity might begin with variations and diversity in the DNA sequences, but it certainly does not end there.
"Basically, the environmental influences, they are all expressed via protein. The influence of the genome on our phenotype – on who we are – all depends on proteins."
Therefore, recent research has focused on studying how protein levels vary among different individuals and groups.
"We are looking at the level of proteins in blood, how they correlate with disease, with progression of disease and with regression upon treatment. We are weaving the study of genetics, proteomics, and transcriptomics, in an attempt to develop full understanding of human diversity and all kinds of diseases."
You have made countless scientific contributions, including the first high-resolution genome map, and your strategy for population studies is being implemented globally. What are you most proud of, so far?
"I take pride in the decision we made as we went back to Iceland and decided to use a population approach to human genetics. All of the big names in the field told me that we would never succeed. Now, others are emulating what we do. So I am very proud of the fact that we were smart enough to take this approach."
Discoveries translate into new treatment methods
This research has also led to significant discoveries of genes associated with risk for conditions such as heart attack, schizophrenia, and autism, among ohers. Kári Stefánsson notes that these discoveries are beginning to be translated into new treatment methods, with several drugs in development, based on the discoveries.
"Having started out as a neurologist and pathologist, I am very pleased to see our discovery being turned into methods to diagnose and treat diseases."
The group has shed light on the generational new sequence diversity that began with the first high-resolution genetic map, which is another thing that Kári Stefánsson is proud of.
"We have a paper coming out in a few weeks where we believe we have the final combination map of the human genome, after having worked on it for over 20 years. "
When you began your journey, did you envision this path?
"I never intended to pursue a career in science or medicine. I was always determined to become a writer of fiction. However, one summer morning in early 1970, my class mate at the gymnasium Stefan Karlsson, who later became a professor at the Faculty of Medicine in Lund, was going to register for medical school. He asked me to go with him. And I did.
"The problem with success is that it makes it difficult to quit. Hence, for a young man like me – I am only 75 – I have to continue."
But do you enjoy it?
"Yes! I am working with spectacular young, talented people. I have an opportunity to be part of all kinds of discoveries. Not just about diseases, but also about the nature of man. And I think that is a privilege!"
What would you like a non-scientist to understand about human genetics?
"I can learn much more about who you are by sitting here, talking to you for 5-10 minutes, than spending a whole month studying your genome. You are a person asking me questions who has a nice presence. I would never be able to get that information from your genome."
That is somewhat comforting to hear!
"Genetics and science in general has significant limitations. There are certain questions you can answer with science. But most of the important questions, at least to me, are very difficult to approach with science. Science has created some interesting tools, but they are not enough to answer all questions about man."
How much do we want to know about the information in our genes?
"It has always been considered a virtue in Western culture, to learn as much about yourself as you can. And genetics is only one of the ways to do that. I personally would like to know anything I can know about myself. The question is just how you deal with it. We all have limitations, we all are going to die. That is for certain."
There is about 340 000 scientific papers that cite your work – that is high praise!
"I have no respect for this numerical assessment of science. Some of my work that is highly cited, I am not particularly fond of. And I have written papers that are extremely important, that have hardly ever been cited."