Sander Pajusalu studies how combinations of gene mutations cause hereditary diseases

Sander Pajusalu, Associate Professor of Clinical Genetics at the University of Tartu, has made a significant contribution to increasing the capacity of genetic diagnostics in Estonia. As Head of the Department of Genetics and Personalised Medicine at Tartu University Hospital he is proud that his work and knowledge has directly benefited both patients and their families. This interview was published in Estonian in full in a new joint section “Get to know the researcher” by Forte and universities in Estonia. 

Born into a family of researchers, Sander Pajusalu is involved in a number of exciting activities and research topics. He is currently leading a project funded by the Estonian Research Council with Villem Pata, Junior Research Fellow in Bioinformatics, to study the oligogenic mechanisms of hereditary diseases, i.e. the development of diseases due to a combination of various gene mutations. “The most common hereditary diseases are caused by changes in a single gene – in this case, it is a monogenic disease that can already be quite well identified in the clinic. However, it has been studied less and it is more difficult to detect when the disease is caused by an interaction of mutations in several different but biologically related genes," Pajusalu explained.

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In addition, Pajusalu contributes to a number of personalised medicine projects, such as the establishment of a personalised medicine centre in Estonia under the auspices of the University of Tartu and Tartu University Hospital. He is also involved in the establishment of the Estonian Cancer Centre at the University of Tartu Faculty of Medicine. The aim of the centre is to create a unified nationwide network bringing together cancer treatment, research, education and patient organisations and to facilitate participation in international projects.

According to Pajusalu, there has been a revolution in clinical genetics over the past 10–15 years since it has become possible to study all genes in parallel in a single analysis. Thanks to this, thousands of new genetic diseases have been discovered and a very large number of patients have received an accurate diagnosis. “At the Department of Genetics and Personalised Medicine at Tartu University Hospital, we are currently successfully diagnosing diseases that were not known or able to be diagnosed a decade ago. Treatments are already being developed for many of these diseases, giving hope to patients suffering from them," explained Pajusalu.

Pajusalu is fascinated by the opportunity to be part of innovation in science. “Science is always years ahead of practice, so doing research is like working in the future. And who wouldn't want to see the future?”

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Sander Pajusalu is Associate Professor of Clinical Genetics and Vice Dean for Development in the Faculty of Medicine at the University of Tartu, Head of the Department of Genetics and Personalised Medicine at Tartu University Hospital and senior doctor-lecturer in medical genetics. His main areas of expertise are clinical genetics, genomics, and personalised medicine. 

See also his profile in the Estonian Research Information System.