Department of Medical Genetics

Research

Research

We regard the research activity as a highly important task that in the case of our department directly serves our patients as well. The results of the studies conducted in numerous fields by our fellow physicians and biologists are published in national and international journals. As the two ends of the spectrum, the research topics include the studies on the susceptibility genes of more common diseases affecting large populations as well as studies on certain rare genetic disorders. Besides examinations of susceptibility genes involved in common disorders the research conducted on large populations includes special pharmaco-genetical testing that is a likely pioneer of the trends towards personalized medicine. In the field of rare diseases, our department is a national center as well. Our national and international grant applications contribute largely to our funding background. Our Ph.D. program is the basis for our research activities.

Our Department represents Hungary in the EUROSCA project, supported by the EU6 framework program, which includes 22 research groups from 9 countries. The primary goal of this study is the diagnosis and research of spinocerebellar ataxias (SCAs), and depending on the proceedings, it wishes to set up guidelines and to form proposals for research and diagnostics as well. The department is also involved in the ORPHANET project that creates a network of laboratories working in the field of rare diseases. In addition, we have joined the Eurobiobanks project supported by the EU7 framework program, since we operate a realtively big biobank in our institute.

Our research topics are primarily from the field of clinical genetics, involving mainly molecular methodology. Our studies are aimed to discover the cellular processes of the genetic disorders. Besides genetics, due to the functional association, we attempt to expand our research towards genomics-proteomics-metabolomics. The information gathered is used to assist prevention and early recognition of more common and rare, inherited disorders, and identification of their pathomechanism, therefore they might prove to be useful in developing novel therapies as well.

 

We would welcome any colleagues or students interested in the following topics we are currently working on:

Susceptibility genes in: cardiovascular diseases, stroke, coagulation disorders,                     inflammatory bowel disease

Molecular pharmacogenomics

Carnitine-metabolism

The role of transcription factors in clinical genetics

Chromosome-structure-aberrations and mosaicism

The genetic background of more common heritable disorders (Rett syndrome, SCA, lipid-metabolism)

Genetic background of asthma, metabolic syndrome, other autoimmune disorders

Disorders of the mithichondrial DNA