Medical Genomics Group

Group Leader:
prof. RNDr. Šárka Pospíšilová, Ph.D.

Contact:
Molecular Medicine Program
CEITEC
Masaryk University
Kamenice 753/5
Brno – Bohunice 625 00
Czech Republic
+420532234622
sarka.pospisilova@ceitec.muni.cz

Funding:
Ministry of Health of the Czech Republic
Ministry of Education, Youth and Sport of the Czech Republic
Ministry of Industry and Trade of the Czech Republic
European Union (FP7, H2020, Structural Funds)
Czech Science Foundation
Technology Agency of the Czech Republic

Description: Our main research aims are:
- Introduction of high-throughput analyses of human genomes (whole genome/exom sequencing, transcriptome profiling, microRNA detection, SNP analysis, etc.).
- Utilization of these technologies in medicine and development of diagnostic tests based on high-throughput methods
- Characterization of ALK role in pediatric tumours specifically in neuroblastoma and rhabdomyosarcoma.
- Study of neuroblastoma and other pediatric CNV (copy number variation) malignancies as epigenetic diseases with aim to better understand role of epigenome in ALK-induced malignities in general.
- Identification of potential therapeutical targets in relapsed or refractory pediatric malignancies applicable in clinical practice.

Collaborators: Prof. Jaroslav Sterba, Dr. Giannoula Lakka Klement, Prof. Michael Doubek, Prof. Trneny

Publications:
1. Malcikova J, Stano-Kozubik K, Tichy B, Kantorova B, Pavlova S, Tom N, Radova L, Smardova J, Pardy F, Doubek M, Brychtova Y, Mraz M, Plevova K, Diviskova E, Oltova A, Mayer J, Pospisilova S, Trbusek M. Detailed analysis of therapy-driven clonal evolution of TP53 mutations in chronic lymphocytic leukemia. Leukemia. 2014 Oct 28.
2. Plevova K, Francova HS, Burckova K, Brychtova Y, Doubek M, Pavlova S, Malcikova J, Mayer J, Tichy B, Pospisilova S. Multiple productive immunoglobulin heavy chain gene rearrangements in chronic lymphocytic leukemia are mostly derived from independent clones. Haematologica. 2014 Feb;99(2):329-38.
3. Mraz M, Dolezalova D, Plevova K, Stano Kozubik K, Mayerova V, Cerna K, Musilova K, Tichy B, Pavlova S, Borsky M, Verner J, Doubek M, Brychtova Y, Trbusek M, Hampl A, Mayer J, Pospisilova S. MicroRNA-650 expression is influenced by immunoglobulin gene rearrangement and affects the biology of chronic lymphocytic leukemia. Blood. 2012 Mar 1;119(9):2110-3.
4. Musilova K, Mraz M. MicroRNAs in B cell lymphomas: How a complex biology gets
more complex. Leukemia. 2014 Dec 26.
5. Northcott PA, Lee C, Zichner T, Stütz AM, Erkek S, Kawauchi D, Shih DJ, Hovestadt V, Zapatka M, Sturm D, Jones DT, Kool M, Remke M, Cavalli FM, Zuyderduyn S, Bader GD, VandenBerg S, Esparza LA, Ryzhova M, Wang W, Wittmann A, Stark S, Sieber L, Seker-Cin H, Linke L, Kratochwil F, Jäger N, Buchhalter I, Imbusch CD, Zipprich G, Raeder B, Schmidt S, Diessl N, Wolf S, Wiemann S, Brors B, Lawerenz C, Eils J, Warnatz HJ, Risch T, Yaspo ML, Weber UD, Bartholomae CC, von Kalle C, Turányi E, Hauser P, Sanden E, Darabi A, Siesjö P, Sterba J, Zitterbart K, Sumerauer D, van Sluis P, Versteeg R, Volckmann R, Koster J, Schuhmann MU, Ebinger M, Grimes HL, Robinson GW, Gajjar A, Mynarek M, von Hoff K, Rutkowski S, Pietsch T, Scheurlen W, Felsberg J, Reifenberger G, Kulozik AE, von Deimling A, Witt O, Eils R, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P,
Korbel JO, Wechsler-Reya RJ, Pfister SM. Enhancer hijacking activates GFI1 family
oncogenes in medulloblastoma. Nature. 2014 Jul 24;511(7510):428-34.
6. Procházka V, Pytlík R, Janíková A, Belada D, Sálek D, Papajík T, Campr V, Fürst T, Furstova J, Trn?ný M. A new prognostic score for elderly patients with diffuse large B-cell lymphoma treated with R-CHOP: the prognostic role of blood monocyte and lymphocyte counts is absent. PLoS One. 2014 Jul 24;9(7):e102594.
7. Janikova A, Bortlicek Z, Campr V, Kopalova N, Benesova K, Belada D, Prochazka V, Pytlik R, Vokurka S, Pirnos J, Duras J, Mocikova H, Mayer J, Trneny M. Radiotherapy with rituximab may be better than radiotherapy alone in first-line treatment of early-stage follicular lymphoma: is it time to change the standard strategy? Leuk Lymphoma. 2015 Jan 21:1-7.
8. Pospisilova S, Gonzalez D, Malcikova J, Trbusek M, Rossi D, Kater AP, Cymbalista F, Eichhorst B, Hallek M, Döhner H, Hillmen P, van Oers M, Gribben J, Ghia P, Montserrat E, Stilgenbauer S, Zenz T; European Research Initiative on CLL (ERIC). ERIC recommendations on TP53 mutation analysis in chronic lymphocytic leukemia. Leukemia. 2012 Jul;26(7):1458-61.

Weblinks:
http://www.ceitec.eu/ceitec-mu/medical-genomics/rg34

Techniques:
massive parallel DNA sequencing (next-generation high-throughput sequencing), SNP mapping (high resolution SNP microarrays), gene expression profiling (microarrays, QRT-PCR), FACS, bioinformatics