I focus on the diagnosis and treatment of Gaucher disease. One of the three types of the disease has the highest prevalence (1:500) in the Ashkenazi Jewish population. The underlying cause of this genetic disease, which is associated with fat storage problems, is the lack of an enzyme (glucocerebrosidase) in the lysosome. The lysosome breaks down substances not needed in cells. The lack of the enzyme glucocerebrosidase results in an imperfect breakdown of a certain type of fat in the body, leading to various tissue, nervous, liver, spleen and bone disorders. Gaucher's disease can be prevented in the prenatal period if we know whether the parents carry the gene that causes the disease or whether the foetus carries the gene at the time of conception.
Education
I graduated in 2012 from the Faculty of General Medicine of the University of Debrecen, Centre of Medical and Health Sciences.
I qualified in haematology in November 2017.
Job experience
In 2012, I joined the Department of Hematology and Stem Cell Transplantation at the National Institute of Hematology and Infectology, South-Pest Central Hospital, where I have been working full-time ever since.
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