What are your research topics?
I am a professor of medical genetics investigating the causes of epilepsy. Founding our research on genetics means that our primary aim is to identify genes and the related defects underlying epilepsy.
In addition to genetic research, we are looking into the disease mechanisms of a rare hereditary epileptic disease that is part of the Finnish disease heritage, with the aim of developing novel forms of treatment.
Where and how does the topic of your research have an impact?
Epilepsy is often a severe disease that is difficult to treat. By carrying out genetic research to identify defective genes that cause epilepsy, we gain information that can be quickly applied to patient care. Thanks to genetic research, patients receive an accurate diagnosis.
Often, genetic discoveries are important, among other things, for family planning. For instance, it has been found that in the case of many severe and progressive epileptic syndromes that appear in early childhood, the disease is caused by what is known as a de novo mutation. In such cases, the parents of the patient are not carriers of a defective gene, which makes the risk of recurrence in subsequent pregnancies in the same family infinitesimal.
In certain cases, a genetic finding may also influence the choice of drugs used in treating epilepsy. Identifying a new disease gene is always key to unlocking the mechanisms of any particular disease. New research findings make it possible to develop new therapies and help patients.
What is particularly inspiring in your field right now?
I am inspired by the immense technological strides that have been taken for a long time already and are still being taken in the field. They improve our ability to both identify more and more disease genes and delve into the evolution of diseases. In my work, I am currently inspired by the recent advances taken by my research group in understanding the disease mechanisms of a hereditary epileptic syndrome. We have taken several steps forward, although we are still quite far from the main goal.
Anna-Elina Lehesjoki is the professor of medical genetics at the Faculty of Medicine.