Roughly 6% of Finns have a rare hereditary disease

According to Minna Pöyhönen, professor of medical genetics, the study of rare diseases generates new targeted treatments that can help 300,000 Finns.

What are your research topics?

I study rare hereditary disorders, cancer susceptibility syndromes in particular. One important focus of my research is neurofibromatosis, a hereditary syndrome affecting the skin and nervous tissue, especially the heightened risk of cancer associated with it.

In the European Union, a disease is considered rare if it affects less than five people in 10,000. Many diseases are even rarer and affect, for example, only one in 10,000.

Where and how does the topic of your research have an impact?

All in all, there are some 8,000 rare diseases, most of which are genetic and, therefore, often hereditary as well. In Finland, rare diseases are estimated to affect approximately 300,000 individuals, or roughly 6% of the population. Research helps to treat them.

What is particularly inspiring in your field right now?

New research methods in molecular genetics and molecular pathology, which have opened new avenues in the development of diagnostics and targeted therapies.

Minna Pöyhönen is a professor of medical genetics at the Faculty of Medicine.

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