Joni Turunen is Appointed Research Group Leader and His Ambitions are High - Folkhälsan
17 November 2020

Joni Turunen is Appointed Research Group Leader and His Ambitions are High

The Board of the Research Center has decided to grant Docent Joni Turunen group leader status in the Genetics Research Program at the Folkhälsan Research Center.

Joni Turunen is an ophthalmologist at HUS and he also has a clinical lecturer position at the University of Helsinki. For several years he has been building up his own group and his own line of research on genetic eye disorders. He is currently supervising four PhD theses and two undergraduate theses.

Turunen’s research team has focused extensively on the study of hereditary eye diseases:

– Even though the eye is a small area anatomically, ophthalmology is a very broad field of medicine and research.

– As a largely transparent tissue, the eye offers excellent opportunities for the detection and classification of diseases and there can be several hundred or even thousands of different genetic diseases in the human eye. Finland's partially isolated population history creates favourable starting points for the study of hereditary diseases as Finland has become enriched with various genetic diseases, Joni explains.

Turunen did his dissertation for Academician Leena Palotie on the genetic causes of schizophrenia. When he started to specialize in eye diseases in 2012 he found that patients had a lot of non-genetically diagnosed eye diseases. Due to his background, Turunen became interested in these and resumed his research work after doing mainly clinical work for some time following the completion of his dissertation.

– I think all patients, if they so wish, deserve an explanation for their disease, which an accurate genetic diagnosis can provide. This also allows for family genetic counselling and risk mapping. Nor can the development of treatments succeed without knowledge of the exact molecular biological mechanisms of the disease, says Turunen.

At present, diagnostic genetic tests are usually available in clinical work in the form of gene panels. However, these explain only some of the patients’ hereditary eye diseases. Through research, Turunen and his research group aims to find out the exact cause of their illness in the remaining patients as well. In addition to the genetic cause, they are also working to better understand the disease and, if possible, develop treatments.

– I would like to expand our field of research into, not only identifying the underlying genetics for disorders and making advancements within diagnostics but also into exploring possibilities for gene therapies through in vitro cell model experiments and CRISPR-Cas9 based therapies. So, I would say our ambitions are quite high, Turunen concludes.

Simon Granroth, Science Communicator