Spotting the Gene Defect

Lauri Aaltonen: The Centre of Excellence (CoE) in Cancer Genetics Research

– I guess my career has been downhill all the way since the doctoral thesis, Academy Professor Lauri Aaltonen sighs, none too convincingly.

Be that as it may, while working with the doctoral thesis Aaltonen made a discovery that is hard to beat.

– The genetic defect predisposing individuals to hereditary colon cancer was found on 13th March 1993, at about quarter to four on a Saturday afternoon, the professor recalls.

– We had already been working for a couple of years, and the search was on for the same gene defect all around the world. It was clear from the data – there it was. Five minutes earlier no one could have known what was about to turn up.

Quite apart from the sheer academic satisfaction, the discovery has also already saved many human lives. With the identification of the disease gene people predisposed to colon cancer can be identified, provided with clinical follow-up, and treated in time. Finnish studies prove that regular follow-up decreases both morbidity/the incidence of the disease and mortality. Knowledge on tumor genetics also facilitates drug development, to combat different types of cancer.

Following on the same trail is the Centre of Excellence (CoE) in Cancer Genetics Research led by Aaltonen. The group consisting of professionals representing a wide variety of fields is, according to Aaltonen, greater than the sum of its parts: no single group in the unit could accomplish alone what they can collectively.

Under the leadership of Eero Pukkala, Director of Statistics, statistically significant clusters of cancer from the Finnish Cancer Registry can be found that may be due to hereditary susceptibility to the disease. The Registry contains the records of one million Finnish cancer patients, which offers indispensible material for researchers.

Aaltonen’s own research team on tumour genomics selects the most promising lines of study and conducts gene analyses, while the group led by Veli Mäkinen, Professor of Computing Science, helps in the management and understanding of the data from these analyses, and the Medical and Statistical System Biology teams led by Academy Professor Jussi Taipale and Research Director Sampsa Hautaniemi help to solve which part of the genetic variation has led to tumor predisposition.

Aaltonen has encouraging words:

– Cancer is an awful disease, but I believe that it can be beaten. Even families with an inherited tendency to develop tumours can already reflect that things will be brighter for future generations. With the development of preventive and treatment regimens, it won’t be that big a deal.

Centre of Excellence (CoE) in Cancer Genetics Research

Text: Tuomo Tamminen
Photo: Linda Tammisto
Translation: first-year students of English, rev. John Calton