témavezető: Melegh Béla
helyszín (magyar oldal): PTE ÁOK Pécs, Szigeti u. 12. helyszín rövidítés: ÁOK
A kutatási téma leírása:
The PhD program combines two main complementary directions: investigations of „Rare Diseases”, which includes mainly monogenic diseases and studying polygenic diseases affecting larger populations. The research activity involves collaboration works among universities, national and European partners. In both areas it is notable that the Department has a remarkable Biobank, with numerous samples from these diseases. Our Biobank is part of the European network (BBMRI), the collection of the rare disease Biobank contains over 10000 samples. Neuromuscular diseases is part of the laboratories original research field. Our Biobank enables research on diseases which affect larger populations, such as inflammatory bowel disease, stroke, autoimmune diseases, metabolic syndrome, polygenic variants of coronary disease. As a related area our research work is spread on the investigation of pharmacogenetically and pharmacogenomically important polymorphisms as part of personalized medicine. Part of this course is the research of enzymes and transporters, which take part in drug metabolism. OCTN2, which plays a role in carnitine transport is also part of the course, because other than resulting in systemic carnitine deficiency it can lead to several diseases. The study of the carnitine system as part of mitochondrial studies is a traditional field of research in our department and as such is part of the PhD program.
felvehető hallgatók száma: 1
Jelentkezési határidő: 2020-05-15
2024. IV. 17. ODT ülés Az ODT következő ülésére 2024. június 14-én, pénteken 10.00 órakor kerül sor a Semmelweis Egyetem Szenátusi termében (Bp. Üllői út 26. I. emelet).
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