Members
- Agnes Szilágyi, PhD, Senior Research Fellow
- Dorottya Csuka, PhD, Senior Research Fellow
- Katalin Marossy, MSc
- János Miklós, MSc, Laboratory Analyst
- Edina Szabó, BSc, Laboratory Analyst
- Beáta Takács, MSc, Laboratory Analyst
- Noémi Janszky, PhD Student
- Simon Péter Nagy, PhD Student
Profile of the working group
Genetic studies within the Research Laboratory started in parallel with the establishment of the laboratory, initially focusing on the genetic basis of diseases treated in the Department of Internal Medicine (cardiovascular and autoimmune diseases, diabetes) by performing genetic association studies.
The Complement Genetics Working Group is currently working on the identification and functional characterization of common and rare genetic factors underlying complement-mediated diseases. Beside research projects, our group is also involved in the diagnostic work of the Research Laboratory, which includes the detection of known pathogenic variants, as well as the identification and classification of potentially disease-causing variants in various rare diseases (atypical hemolytic uremic syndrome, C3-glomerulopathies, complement deficiencies, hereditary angioedema, Upshaw-Schulman syndrome, transthyretin amyloidosis).
Method used: Our group applies polymerase chain reaction (PCR)-based techniques, including PCR-RFLP, allele-specific PCR, long-range PCR, multiplex ligation-dependent probe amplification, as well as quantitative and qualitative real-time PCR, to analyse a variety of genetic alterations from single base changes to structural variants. Many research projects and diagnostic workflows require the analysis of the complete sequence of selected regions or whole genes of interest, which we perform using Sanger sequencing or next-generation sequencing with the help of an external service provider.