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Helena Kääriäinen

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The University of Tartu has conferred the degree of Honorary Doctor of Clinical Genetics on Professor Helena Kääriäinen for her outstanding contribution to research and development in the field of clinical genetics and long-term productive cooperation with researchers of the University of Tartu.

Helena Kääriäinen was born on 23 July 1949 in Helsinki, Finland. She graduated from the University of Helsinki in 1975 with a degree in medical sciences and in 1986 in clinical genetics. In 1986 she also defended her doctoral dissertation at the University of Helsinki. She worked for a long time in the Department of Clinical Genetics at the Helsinki University Hospital and in Väestöliitto, the Family Federation of Finland. In her further career, she was the head of the Department of Clinical Genetics at the Turku University Hospital.

Professor Kääriäinen’s research in the field of clinical genetics has largely focused on rare diseases, characterising the clinical picture and discovering new rare diseases and their epidemiology. As the Finnish population is genetically exceptional in the world, her scientific activity while working at Väestöliitto primarily focused on the study of Finnish-origin rare diseases.

As part of her clinical work, Helena Kääriäinen has been particularly interested in dysmorphology syndromes and has organised seminars in this field in Finland, with many internationally renowned scientists, including clinical geneticists from Estonia, participating. Professor Kääriäinen has also paid special attention to the psychosocial consequences of genetic testing and to the study of public health in the aspect of genetics.

Helena Kääriäinen’s connections with colleagues working at the University of Tartu began about 30 years ago, when Estonian clinical geneticists first went to train at the Department of Clinical Genetics of the Helsinki University Hospital. In later years, Estonian clinical geneticists have regularly participated in seminars and discussions of rare cases organised by Finnish colleagues. This has developed a functional and effective cooperation between Estonian and Finnish clinical geneticists. In the last decade, Professor Kääriäinen opposed three doctoral theses and supervised several doctoral students at the University of Tartu. She was the main guest lecturer at the Estonian Doctors’ Days in 2019.

Internationally, Professor Kääriäinen has long been one of the leading figures at the European Society of Human Genetics, first as a board member, later as a long-term Secretary-General and finally as the President in 2014–2015. This also laid the foundation for her active cooperation with the Estonian Genome Centre of the University of Tartu in the field of testing and prevention of health issues of the general population.

In addition to numerous (158) peer-reviewed research articles, Professor Helena Kääriäinen has written books on genetics both for physicians and for the general public. Her book “Your Genes and Mine” (Sinisukk 2004) and a university textbook on medical genetics, edited by Kääriäinen, (Medicina 2010) have also been published in Estonian.  She is actively involved in various teaching projects, such as compiling online genetics courses for the Duodecim medical publishers.

As research professor of the Finnish Institute for Health and Welfare, Helena Kääriäinen currently participates in the P5 study, which examines whether people want to know their genetic health risks and whether they feel this knowledge is good for their health. The project also aims to increase the knowledge of healthcare professionals about genetic risk factors and diseases.

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