Universitas Helsingiensis

It's in the genes

It's in the genesIn addition to Finnish genetic research, Finnish genes themselves are highly rated in the world today. Finland’s homogenous population, comprehensive registers, and people who take a positive attitude towards science are a unique combination.

We live, grow up and grow old dictated by our genes. Yet we are more than the sum of our genetic make-up: our genes and the environment are in constant interaction throughout our lives. Thanks to today’s genetic research, we have the ability to learn about diseases with a level of accuracy that as recently as ten years ago would have been unimaginable.

“Finnish genetic research started with the research into the 37 rare diseases that belong to the Finnish disease heritage. Today, we know the genetic mutations behind all these diseases, save one. Further, more recently the first predisposing gene variants for common public health problems have also been identified. For example, the discovery of risk genes behind asthma and the high lipid levels in blood, hyperlipidemia, provide us with new insight into how these diseases emerge and progress,” says Academy Professor Leena Peltonen-Palotie.

The field of biomedicine that the University of Helsinki excels in is research into the basic mechanisms of disease genetics, mitochondrial diseases and cancer. Peltonen-Palotie holds an Academy Professorship in the University of Helsinki and the National Public Health Institute in Biomedicum Helsinki, a centre for medical research and training on the Meilahti campus. She currently directs both the Finnish and Nordic Centres of Excellence in Complex Disease Genetics and an extensive European twin study that aims to unravel the genetics of national diseases and their links with diet and lifestyle.

Mother Nature’s testing ground

The genetic research carried out at the University of Helsinki in collaboration with its Finnish partners is of considerable international renown. Peltonen-Palotie thinks this is not necessarily due to the high quality of researchers but also to that of the research data available in Finland. We can also thank Mother Nature for making Finland a perfect testing ground for genetic research: the Finnish population originates from a small group of ancient settlers, whose descendants have faithfully lived by the same lakes and forests as their forebears, and relatively small number of immigrants has moved into the country over the centuries. The population has remained homogeneous and isolated.

“The history of Finland’s settlement is the reason for the unique Finnish disease heritage and therefore our population provides exceptionally good material for studying the biological background of diseases. Deviations are easier to identify in Finnish genes since there is less variation than usual and signal for disease genes are easier to identify from the background variations between individuals. For ex-ample, autism and hyperlipidemia are not exclusively a Finnish problem, but technically the predisposing genes are easier to spot in the Finnish population,” Peltonen-Palotie says.

“For common public health problems, the comprehensive records that Finland has kept of its citizens are an advantage. The personal identity code that has been in use for decades, the public healthcare system and various electronic records that can be made accessible to researchers provide valuable research infrastructure. And the homogeneity of Finns is not

only restricted to genes, our lifestyles and diets are also relatively similar throughout the country. What’s more, epidemiologists have gathered data related to them for decades,” Peltonen-Palotie adds.

Faith in science

Finns have a high respect for science and thereby genetic research, too. The majority of Finns are willing to participate in studies. This is notable, since in many countries people can be quite reluctant to give DNA samples, even for research purposes.

“My foreign colleagues often point this out. My view is that thanks to the high standard of education in Finland, Finns have a positive attitude towards research and a strong belief in the benefits of science for their children and grandchildren. I would also presume that the doctors of previous generations did a good job, because Finns seem to have confidence in our medical research and in our public health-care system,” the professor says.

Using Finnish study samples Peltonen-Palotie’s research group has identified, for example, the DNA variant that prevents the normal breakdown of lactose in intestinal cells after weaning period, thus causing lactose intolerance. Finding the DNA variant has enabled the development of a simple laboratory test that can be used for the diagnosis of lactose intolerance instead of earlier cumbersome intestinal tests.

“Interestingly, the so-called ‘mutation’ we have identified actually is the original form of the gene in human species. In fact, humans are not intended to drink milk after infancy, but in the harsh conditions of Northern hemisphere, milk has been an important source of protein. As many as 80 per cent of Finnish adults can drink milk without adverse symptoms, whereas among African Americans and Asians, nearly 90 per cent may have lactose intolerance. The gene mutation has perhaps been beneficial in conditions where the crops were often destroyed by frost and food was scarce. Those who tolerated milk had a slight advantage, they survived and passed on their genes. Even with a small estimated selective advantage per generation, during the history lactose tolerance became a characteristic of the majority.”

Global contacts

Professor Leena Peltonen-Palotie is one of the Finnish scientists who are recognised by the public when walking in the street and whose face and name most laypeople connect with genetics. Finns know her from magazines and television, where she has often been interviewed concerning her field of research. Publicly promoting genetics is important, because providing accurate information on genetic research will help avoid unnecessary misconceptions and fears.

Holding the reins of several research projects is possible only in an efficient working community. The internationally highly acclaimed scientist, Peltonen-Palotie travels a lot. Every six weeks, her work at Boston’s Broad Institute, where she holds 18 per cent of a professorship, takes her to the United States. She makes use of the Finnish data also in her research in the United States.

Constant travel is to her like making a jigsaw puzzle. “Organising my family life is easier now that my two children are almost adults. I have always had a strong network to support me, which has allowed me to concentrate on my research. I have also picked my husband well: he is a scientist too and completely understands the importance of my work. Outside work, I spend nearly all of my time with my family,” Peltonen-Palotie says.

A white coat hangs from the coat rack in Peltonen-Palotie’s office, but in reality, it has been years since she was last spotted pipetting in the lab. Most of her time is spent at various meetings. Finnish data attract much international interest and Peltonen-Palotie’s unit regularly hosts international scientists. “Foreign scientists want to come and learn of the Finnish setting and test their hypotheses on the Finnish study samples. This is a wonderful acknowledgment of Finnish genetics, and also provides a great opportunity to maintain contacts with researchers in the field. We aim to excel in the narrow specialist area of our own and provide an attractive research environment for foreign researchers,” says Peltonen-Palotie.

She received three notable academic acknowledgements in October. The Erik K. Fernström Foundation’s Nordic Prize, the European science prize for biomedical research, Prix van Gysel, and she was elected a Foreign Associate of the Institute of Medicine (IOM) of the National Academies USA. The IOM membership is a particularly prestigious recognition and she is so far the only Finn to receive the honour.

“It feels amazing to receive acknowledgement for one’s work. Bear in mind, however, that what really was awarded was the entire body of Finnish genetic research – this is teamwork, after all,” Peltonen-Palotie says.

Arja-Leena Paavola