It is amazing to see how few persons still carry the flame of enlightenment and buck the fossilized system with their success. One of these men is prof. Ivailo Tarnev. With his achievements in science he has gained acknowledgement across the world while at home he shares the common fate of researchers denied even basic conditions and funding to do science.

A discoverer of 13 rare hereditary diseases prof. Ivailo Tarnev received the medical Oscar (from the National Medical Awards 2018) for lifetime achievement. The director of the Clinic of Neurology at Alexandrovska Hospital in Sofia has accepted the award as a token of recognition of his efforts as a doctor and scientist but also of his dedicated work in the area of public health.

“A great part of these thirteen diseases are of the neuromuscular type and affect peripheral nerves and muscles; others affect structures of the central nervous system,” prof. Ivailo Tarnev explains. “The path from discovering a disease to finding treatment for it however is rather long. After the identification of a genetic defect the physiology and functions of the gene are studied. Then an animal model of the disease is created and only after that clinical trials on humans begin. We are so far at the stage of animal models and have not found the treatment of any of them.”

All diseases have been found first in Bulgarian populations – among Bulgarians, Roma and Turks, but have been later found in other ethnic communities and countries. According to prof. Ivailo Tarnev hereditary diseases exceed 7000.

„The human genome has about 22,000 genes and these are subject of mutations. Most of these mutations date back to the dawn of mankind and are handed down from generation to generation in all ethnic groups and nations. For example, 10% of mankind carries a genetic defect predisposing to early heart and brain stokes. Other mutations emerged much later and still others quite recently in separate families. Environmental factors can sometimes modify genetic defects – by either strengthening or weakening them, but they are not dominant in the pathogenesis of hereditary diseases. Genetic defects play the dominant role.”

Owing to his discoveries prof. Ivailo Tarnev enjoys a remarkable international reputation. He has worked with the greatest luminaries in his field and his motivation today comes from the young scientists who have decided to stay in his team despite generous offers from European centers.

“In the recent years there has been no adequate climate for doing science. Science has grown into something of a hobby, a pastime occupation,” prof. Ivailo Tarnev notes. “In the European countries there is enough time for research coupled with robust financing of science while in Bulgaria funding is meagre. We rely on external donors because grants provided by the Medical University and by the Ministry of Education and Science are negligible. Pathway medicine kills creativity, the creative thinking of the clinician – with all these financial restrictions. We did a lot in the past, but it is impossible to do anything on this scale today. However, I am happy to have had the chance of working in other times when we had the freedom of doing science. To sum up: we are now living through a period of great hardship – thinking much more about financing than of discoveries in science. In this sense, it is a great challenge to maintain a decent level of science in Bulgaria.”

The workday of the professor begins and ends in the dark hours because he has turned his job into a cause and believes that climbing high summits – beyond the limits of national achievement – requires plenty of passion and dedication.

English Daniela Konstantinova