When the impossible became possible
Professor Leena Peltonen has played a pioneering role in the study of the genetic and biochemical basis of human disease. Appointed as Academician of Science in October 2009, she has been at the very forefront of research in this field ever since the first human gene was sequenced in 1978.
”It was fantastic. We had scientists visiting our laboratory to give talks on how it was now possible to sequence the human genome at the same level of accuracy as the fruit fly’s. Suddenly, our distant dream had become reality,” Leena Peltonen explains.
At the time she had just received her doctorate from the Academy’s Collagen Research Centre under Professor Kari Kivirikko and was starting as a post-doc at Rutgers Medical School, New York, headed by the legendary connective tissue expert, Dr Darwin Prockop. She subsequently shifted the focus of her research from proteins to genes, without any deliberate career planning – a move she has never had to regret.
The development of human genetics has been quite phenomenal. Rather than studying individual genes, the focus of research has now expanded to include the impact of the individual’s complete genome information on disease aetiology. This information is used in the prevention and treatment of a wide range of diseases, and the future prospects are just amazing:”Within the next year or two, the costs of sequencing an individual’s genome could be down to less than 1,000 US dollars.”
“I have been extremely fortunate to be involved in this process from its very earliest stages. I have been in the right place at the right time,” says Leena Peltonen, one of the world’s foremost and most respected experts in gene research.
Treasure trove for gene researcher
In her research, Professor Peltonen has made excellent use of the unique Finnish genotype.
”It’s been a real luxury to do research in Finland and with Finnish datasets. It’s not only our national gene pool that is unique in providing technical shortcuts in disease gene identification, but the same can be said of our national health care records that span decades, our biological sample collections and above all the altruistic willingness of Finnish people to take part in our studies.”
And the results speak for themselves: Leena Peltonen and her team have identified genetic mutations associated with dyslipidemias, lactose intolerance, MS disease, schizophrenia, obesity and heart diseases. They have also established how these mutations mechanistically lead to the actual onset of disease.
These efforts have paved the way to new diagnostic tests and to screenings for disease carriers.
The current hot topic in gene research is the ongoing effort to produce a more detailed characterization of the human genome. In the context of the 1,000 Genomes Project, an international research consortium is working to sequence the genomes of a thousand people from around the world; no less than 100 of these are from Finland.
Once we have this information at our disposal, we will also have a clearer understanding of how our genetic make-up and the environment communicate with each other and why some people have high cholesterol levels or why they get depressed.
Oases in the desert
”In a sense this is a doctor’s job: my aim is to find what goes wrong in cells and in tissue when people fall ill,” says Leena Peltonen, who originally wanted to be a paediatrician.
Nevertheless she has found that research is extremely rewarding. Unlike many other jobs it allows for the opportunity to really get to the bottom of things – even though everyday routines can sometimes be ‘pretty tedious and test your patience’.
The completion of a doctoral thesis is always an exciting milestone, an ‘oasis in the desert’. It is a concrete demonstration of all the effort invested by the young scientist over several years, says Professor Peltonen, who has trained and nurtured a whole generation of new gene researchers. All told, she has supervised some 70 doctoral dissertations in Finland and the United States.
”You get the same sense of achievement from the completion of any other major project, or from the discovery of a new gene or the cause of a disease.”
Professor Peltonen is particularly proud of one particular achievement, which is that scientists in Finland have successfully identified all genetic mutations in the Finnish disease heritage. This has not yet been done anywhere else in the world.
”A good example of more common diseases is the discovery by Finnish scientists of the genetic mutation for lactose intolerance, which was being traced all over the world. This is currently the most common of all diagnostic DNA tests.”
National and international research and impact
Professor Leena Peltonen has held several professorships and other significant positions at research organisations both at home and abroad. She was a Professor at the National Public Health Institute in 1991–1994 and at the National Public Health Institute and the University of Helsinki in 1995–1998 and again in 2002–2003. In 1998 she moved to the University of California Los Angeles (UCLA) to establish a major genetic research centre. After seven years in the United States, she was invited to become Head of Human Genetics at the Wellcome Trust Sanger Institute, Europe’s leading genome research centre. In addition to her work at the Sanger Institute in the UK, Professor Peltonen is currently Research Director at the Institute for Molecular Medicine Finland (FIMM) and at the National Institute for Health and Welfare as well as Visiting Professor at Broad Institute, Boston. She is also a member of the Scientific Council of the European Research Council (ERC) and a member of the US National Academy of Sciences, Institute of Medicine.
Professor Peltonen chaired the Academy of Finland’s Research Council for Health in 1995–1997, served as Academy Professor in 2003–2007 and was Director of the Centre of Excellence in Complex Disease Genetics in 2000–2007. She has been extraordinarily productive in terms of her scientific output.
Guided by intuition
Professor Peltonen’s team in Finland includes more than 30 and at the Sanger Institute some 20 scientists at different stages of their career.
As in any good team, this is a mixture of very different kinds of personalities. It is important to be hard working, but that alone is not enough. You need passion and courage. Creativity can only flourish in an environment where people are inspired by the work they are doing.
“There are always those who will want to try and suppress your imagination and excitement, but you just have to trust your own intuition. If you have real faith in your intentions and push forward with conviction, then you can make it happen.”
Professor Peltonen believes that teams are formed through their individuals, for researchers inspire and learn from one another. ”I’m convinced that people don’t come here during weekends and in the evenings just because they want to find that gene or because they want to finish that article. I would say most of them come here because it’s fun. This is also very much a social community.”
The role of the team leader is ‘to paint pictures in the sky, to persuade people that they can achieve the unachievable’.
Awards and appreciations
In recognition of her achievements Professor Peltonen has received numerous science awards, such as the Anders Jahre, Matti Äyräpää and Erik Fernström awards. She also holds several titles of Honorary Doctor and Honorary Professor at universities both at home and abroad.
She was granted the honorary title of Academician of Science in October 2009. ”That really did stop me in my tracks – to think that somebody had so much appreciation for the work I was doing. I would like to think of this as a thank you from the Finnish people, and for that I am very proud.”