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National Center for Medical Genomics

Medical genomics is a dynamically evolving scientific discipline that gathers and uses the genomic information of patients, their genetic relatives and even the entire population to identify the genetic, genomic and molecular basis of human health and disease.

NCMG is a distributed scientific infrastructure, which consists of following genomic laboratories: First and Second Faculty of Medicine and Faculty of Medicine in Pilsen, Charles University in Prague, General University Hospital in Prague, Motol University Hospital; BIOCEV - Biotechnology and Biomedicine Center of the Academy of Sciences and Charles University in Vestec; Department of Internal Medicine, Hematology and Oncology (IHOK) and Centre of molecular biology and gene therapy (CMBGT) at University Hospital Brno; Central European Institute of Technology (CEITEC) at Masaryk University at Brno; Institute of Molecular and Translational Medicine at Faculty of Medicine and Dentistry at Palacký University Olomouc; University Hospital in Pilsen.

The objective of NCMG is to provide for an operation of next generation sequencing platforms and subsequent technologies for analysis of human genomes and to allow qualified usage of these technologies in biomedical research and translational medicine in Czech Republic. Different localization and partially different specialization of individual laboratories guarantee expansion of genomics in CR , corresponding with global trends. NCMG laboratories are equipped with modern instruments and provide fundamental instrumental, methodical and experimental expertise, which is necessary for genomic sequencing, whole genome genotyping, cytogenetic analysis and analysis of genome, transcriptome and epigenome. NCMG is also equipped with corresponding computational and data storage resources and offers bioinformatics and statistics support for projects with focus on study of both complex and rare diseases and also oncological diseases.


News

We would like to invite you to attend and participate in the 2nd HVP Variant Effect Prediction Training Course that will be held from Monday 6 to Wednesday 8 November in the beautiful historic city of Prague, Czech Republic. More information and registration at http://vep.variome.org/

VEP

 

New publication supported by NCMG: Krsička D, Geryk J, Vlčková M, et al (2017) Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach. Autism Res. doi: 10.1002/aur.1780 - 5. 4. 2017

New publication supported by NCMG: Liskova P, Dudakova L, Krepelova A, et al (2017) Replication of SNP associations with keratoconus in a Czech cohort. PLoS One 12:e0172365. doi: 10.1371/journal.pone.0172365  - 21. 2. 2017

Two teams from NCMG have received Minister of Health of Czech Republic Awards for research and development in medicine for 2016. Team of doc. Ing. Stanislav Kmoch, CSc. was awarded for the project " Identification of the genetic and molecular basis of rare genetic disorders using novel genomic methods" and the team of prof. RNDr. Šárka Pospíšilová, Ph.D. for the project "Molecular characterization of B-cell receptors and its relation to the evolution of genetic changes in chronic lymphocytic leukemia." - 16. 12. 2016

We would like to introduce you our Scientific Advisory Board - 2. 12. 2016

New publication supported by NCMG: Mazurova S, Magner M, Kucerova-Vidrova V, et al (2016) Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. Cardiol Young 1–9. doi: 10.1017/S1047951116001876 - 21. 11. 2016

Please visit our new social networks profiles on Facebook and Twitter. - 4. 10. 2016


Key people

Doc. Ing. Stanislav Kmoch, CSc.
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For First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague; head of the research program Development of Diagnostic and Therapeutic Procedures at BIOCEV and head of the Genomics and Bioinformatics Laboratory at Institute for Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital. His main focus lies in the study of genetic, molecular, cellular and pathologic causes of rare and complex diseases.

 
Prof. MUDr. Milan Macek, DrSc., MHA
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for Second Faculty of Medicine, Charles University in Prague and University Hospital Motol; chairman of the largest academic medical/molecular genetics institution in the Czech Republic - Department of Biology and Medical Genetics; ÚBLG. He is also the past President of the European Society of Human Genetics (ESHG.org; 2011), past-board member of the European Cystic Fibrosis Society (ECFS.eu; 2007-2015 and of the European Society for Human Reproduction and Embryology (ESHRE.eu; 2012-2014). He also serves at the Commission Expert Group on Rare Diseases (formerly EUCERD.eu). ÚBLG was designated by the Czech Ministry of Health as a National Coordination centre for rare diseases (Bulletin 4/2012) which serves as a "clearing centre" for the dissemination of knowledge in rare disease-related genomics gathered within various international / European projects such as CF Thematic Network, EuroGentest, EuroCareCF, Techgene.eu, RD-connect.eu, Norway Grants or EU ESF funds. His main research and clinical interest is genomics of rare diseases, and how to translate such knowledge to clinical diagnostics and/or bedside. Prof. Macek is also the Czech National coordinator of Orpha.net and member of the Diagnostic Committee of the International Rare Disease Consortium (IRDIRC.org).

Prof. RNDr. Šárka Pospíšilová, Ph.D.
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For Masaryk University and University Hospital Brno; research groupleader of Medical Genomics, coordinator of Molecular Medicine program at CEITEC, and head of Centre of molecular biology and gene therapy of University Hospital Brno. Research projects focus primarily on study of p53 signalling pathway and other molecular markers of hemato-oncological diseases, mutational and functional analyses of immunoglobulin genes and microRNAs in lymphoproliferative disorders. The laboratory is also intensively on application of genomic approaches in diagnostics of hematologic and oncologic diseases (leukemias, lymphomas, breast cancer and other malignancies) in postnatal but also in prenatal and pre-implantation diagnostics.

 
prim. MUDr. Ivan Šubrt
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For the Faculty of Medicine in Pilsen, Charles University Prague and the University Hospital in Pilsen; head of the Department of Medical Genetics and of the research group Medical Genomics. Research projects are focused mainly on the study of molecular markers of disorders of human reproduction, susceptibility to infectious diseases, oncogenesis and on the utilization of genomic technologiesfor diagnosis of rare genetic diseases.

Assoc. Prof. Marian Hajduch, MD, PhD
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Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc. Director of the Institute of Molecular and Translational Medicine, head of the research program Chemical biology and experimental therapeutics. Research projects are focused on research into the molecular biology of cancer in particular, on research and development of new drugs and diagnostic methods and translational medicine.

 

Institutions


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Institute for Inherited Metabolic Disorders, First Faculty of Medicine at Charles University in Prague, General University Hospital and BIOCEV

The laboratory is focused on studying the molecular basis of rare genetically determined disorders. In its work combines latest techniques and methods of medical genomics, bioinformatics, metabolomics, molecular biology and biochemistry with detailed clinic-pathologic evaluation of the studied diseases. In recent years this approach led to identification of causal genes and characterization of molecular basis of more than a dozen of severe genetic diseases. The laboratory offers it's expertise to clinical centers both in the Czech Republic and abroad.




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Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol

Department of Biology and Medical Genetics is a clinical-diagnostic, academic and research institution. Main topics are diagnostics and further study of hereditary diseases in prenatal and postnatal phase of development by means of state of the art techniques of molecular genetics, molecular cytogenetics and next generation sequencing. By decision of Czech Ministry of Health a National coordination center for rare diseases was established at Department of Biology and Medical Genetics.




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Masaryk University - CEITEC

CEITEC MU was established as a part of scientific centre of excellence Central European Institute of Technology (CEITEC). Shared Core Facility Genomics and Laboratory of Medical Genomics are based in newly built premises University Campus that offers high-end equipment and optimal conditions to solve current issues of biomedical and clinical research (from genome analysis, mapping of key genetic defects, molecular genetic diagnostics to search for suitable targets for gene therapy). The portfolio of services of shared Genomics laboratory includes high throughput massively parallel sequencing, cell separation using FACS and MACS, real time PCR including microfluidic PCR, microarrays and other technologies. Scientists from the Czech and foreign universities and research institutes interested in using the services of Genomics Laboratory can apply for financial support from the Ministry of Education, Youth and Sports (MEYS).




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University Hospital Brno

Centre of molecular biology and gene therapy (CMBGT) forms a part of Department of Internal Medicine, Hematology and Oncology (IHOK) focused on research and development and is one of the key units of the University Hospital Brno. It deals with the molecular biological diagnostics in the field of haematooncology, solid tumors, inherited diseases and identification of pathogens in immunocompromised patients. It also applies cytometry and cytogenetic diagnostics in hematology and hematooncology an performs applied research in general field of human medicine.




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Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University Prague and the University Hospital in Pilsen

Research activities of the group focus on the study of molecular markers of disorders of human reproduction, susceptibility to infectious diseases, oncogenesis and on the clinical aspects of broad group of rare genetic diseases.




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Institute of Molecular and Translational Medicine,
Faculty of Medicine and Dentistry, Palacký University in Olomouc

The Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University in Olomouc is cutting-edge biomedical research institute in the Czech Republic. The IMTM’s mission is basic and translational biomedical research with the goal to understand the underlying causes of cancer and infectious diseases and to develop future human medicines and diagnostics.



Research teams

Institute for Inherited Metabolic Disorders, First Faculty of Medicine at Charles University in Prague, General University Hospital and BIOCEV

Head of the group:
Doc. Ing. Stanislav Kmoch, CSc.
stanislav.kmoch@lf1.cuni.cz
+420 22496 7016, +420 22496 7691

Molecular biology, genetics and NGS sequencing:
RNDr. Hana Hartmannová, Ph.D.
hana.hartmannova@lf1.cuni.cz
+420 22496 7052

Ing. Kateřina Hodaňová, Ph.D.
katerina.hodanova@lf1.cuni.cz
+420 22496 7668

Ing. Lenka Piherová
lenka.piherova@lf1.cuni.cz
+420 22496 7052

Ing. Ivana Jedličková
ivana.jedlickova@lf1.cuni.cz
+420 22496 7052

Bioinformatics and biostatistics:
Mgr. Viktor Stránecký, Ph.D.
viktor.stranecky@lf1.cuni.cz
+420 22496 7668

Mgr. et Mgr. Anna Přistoupilová
anna.pristoupilova@lf1.cuni.cz
+420 22496 7211

Mgr. Petra Zemánková (Boudová)
petra.boudova@lf1.cuni.cz
+420 22496 5829

Lab technician:
Miroslav Votruba
miroslav.votruba@lf1.cuni.cz
+420 22496 7062

Technical and administrative support:
Ing. Eva Oliveriusová
estar@lf1.cuni.cz
+420  22496 7680

Ethics:
Mgr. Věra Franková, Ph.D.
vera.frankova@lf1.cuni.cz
+420  22496 7224

Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol

Head of the research team:

Prof. MUDr. Milan Macek, DrSc., MHA
milan.macek.jr@lfmotol.cuni.cz
+420  224 433 500

Deputy head of the research team:

Prof. Ing. Zdeněk Sedláček, DrSc.
zdenek.sedlacek@lfmotol.cuni.cz
+420 257 296 153

Molecular genetics, next generation sequencing:

Mgr. Miroslava Hančárová, PhD.
miroslava.hancarova@lfmotol.cuni.cz
+420 257 296 152

Mgr. Darina Prchalová, PhD.
darina.prchalova@lfmotol.cuni.cz
+420 257 296 152

Mgr. Jana Paděrová
jana.paderova@lfmotol.cuni.cz
+420  224 433 529

Mgr. Jana Chrudimská
jana.chrudimska@fnmotol.cz
+420  224 433 545

Mgr. Patricia Norambuena, Ph.D.
patricia.norambuena@fnmotol.cz
+420  224 433 529

Mgr. Věra Pajkošová
vera.pajkosova@lfmotol.cuni.cz
+420  224 433 529

Ing. Lucie Winkovská, Ph.D.
lucie.winkowska@lfmotol.cuni.cz
+420  224 436 485

Bioinformatics:

Mgr. Jan Geryk, Ph.D.
jan.geryk@fnmotol.cz
+420  224 433 528

MUDr. Marek Turnovec
marek.turnovec@lfmotol.cuni.cz
+420  224 433 535

Molecular Medicine Program CEITEC MU – Genomics Core Facility and Research Group of Medical Genomics

Head of Molecular Medicine Program and Research Group of Medical Genomics:
prof. RNDr. Sarka Pospisilova, Ph.D.
sarka.pospisilova@ceitec.muni.cz
+420 532234622

Head of Genomics Core Facility:
MVDr. Boris Tichy, Ph.D.
boris.tichy@ceitec.muni.cz
+420 733141527

NGS, microarrays:
Mgr. Filip Pardy
filip.pardy@ceitec.muni.cz
+420 549498317

Mgr. Tereza Cermanova
tereza.cermanova@ceitec.muni.cz
+420 549497934

Biostatistics, bioinformatics:
Mgr. Lenka Radova, Ph.D.
lenka.radova@ceitec.muni.cz
+420 549497586

Mgr. Nikola Tom
nikola.tom@ceitec.muni.cz
+420 549495786

Mgr. Karol Pal
karol.pal@ceitec.muni.cz
+420 549495786

Technical and administrative support:
Mgr. Katerina Vagnerova – Core facilities manager CEITEC MU
katerina.vagnerova@ceitec.muni.cz
+420 549498039

Mgr. Lenka Adamkova-Humpolikova, Ph.D. - Lab manager of Molecular Medicine Program CEITEC MU
lenka.adamkova@ceitec.muni.cz
+420 549493878

Centre of Molecular Biology and Gene Therapy of University Hospital Brno (CMBGT)

Head of CMBGT:
prof. RNDr. Sarka Pospisilova, Ph.D.
sarka.pospisilova@fnbrno.cz
+420 532234622

Unit of congenital and genetic diseases:
doc. RNDr. Lenka Fajkusova, CSc.
lfajkusova@fnbrno.cz
+420 532234625

Unit of Cancer Genomics:
RNDr. Jitka Malcikova, Ph.D.
jmalcikova@fnbrno.cz
+420 532234396

Mgr. Karla Plevova, Ph.D.
kplevova@fnbrno.cz
+420 532234396

Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University Prague and the University Hospital in Pilsen

Head of the research team:
MUDr. Ivan Šubrt, Ph.D.
subrti@fnplzen.cz
+420 377 402 800

Molecular biology, genetics and NGS sequencing:
MUDr. Monika Černá, Ph.D.
cernam@fnplzen.cz
+420 377 402 810

Mgr. Markéta Hejnalová
hejnalovam@fnplzen.cz
+420 377 402 810

Mgr. Tomáš Zavoral
zavoralt@fnplzen.cz
+420 377 402 810

Laboratory technician:
Lucie Milichovská
milichovskal@fnplzen.cz
+420 377 402 874

Institute of Molecular and Translational Medicine

Leader of the research team:
Assoc. Prof. Marian Hajduch, MD, PhD
marian.hajduch@upol.cz
+420 585632082, +420 585632083

Molecular biology, genetics, NGS sequencing:
Josef Srovnal, MD, PhD
josef.srovnal@upol.cz
+420 585632137

Assoc. Prof. Jiri Drabek, PhD
jiri.drabek@upol.cz
+420 585632070

Radek Trojanec, PhD
radek.trojanec@upol.cz
+420 585632089

Bioinformatics, biostatistics:
Mgr. Jana Vrbková, Ph.D.
jana.vrbkova@upol.cz
+420 585632057


Our projects

Institute for Inherited Metabolic Disorders, First Faculty of Medicine at Charles University in Prague, General University Hospital and BIOCEV

NT13116 Identification of the genetic and molecular basis of rare genetic disorders using novel genomic methods, Grant provider: MZ0 - Ministry Of Health Of The Czech Republic, Main recipient: Charles University in Prague / First Faculty of Medicine, Period of research project: 2012-2015.

NT14025 Role of rare variants in genetic predisposition to statin myopathy, Grant provider: MZ0 - Ministry Of Health Of The Czech Republic, Main recipient: Institute for Clinical and Experimental Medicine, Period of research project: 2013-2015.

LH12015 Identification and characterization of genetic factors contributing to chronic kidney disease, Grant provider: The Ministry of Education, Youth and Sports (MEYS, MŠMT), Main recipient: Charles University in Prague / First Faculty of Medicine, Period of research project: 2012-2015.

GA14-21903S Genetic architecture of impulsive violence, Grant provider: GA0 - The Czech Science Foundation (GA CR), Main recipient: Charles University in Prague / First Faculty of Medicine, Period of research project: 2014-2016.

15-27682A Next generation sequencing for early diagnosis and individualized treatment of dilated cardiomyopathy and related forms of cardiomyopathy, Grant provider: MZ0 - Ministry Of Health Of The Czech Republic. Main recipient: Institute for Clinical and Experimental Medicine, Period of research project: 2015-2018.

15-28208A  Characterization of the molecular basis of rare genetic diseases of pediatric onset using new methods of genome analysis, Grant provider: MZ0 - Ministry Of Health Of The Czech Republic. Main recipient: Charles University in Prague / First Faculty of Medicine, Period of research project: 2015-2018.

GB14-36804G Center of mitochondrial biology and pathology (MITOCENTRUM), Grant provider: GA0 - The Czech Science Foundation (GA CR), Main recipient: Institute of Physiology CAS, Period of research project: 2014-2018.

17-29786A Identification and characterization of genetic factors contributing to inherited tubulointerstitial kidney disease, Grant provider: MZ0 - Ministry Of Health Of The Czech Republic. Main recipient: Institute for Clinical and Experimental Medicine and Charles University in Prague / First Faculty of Medicine, Period of research project: 2017-2020.

 

Second Faculty of Medicine at Charles University, Motol University Hospital

305444 RD-CONNECT, An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research, Grant provider: FP7. Period of research project: 2012-2018.

LD14073  Introduction of next generation sequencing into clinical diagnostics in the Czech Republic: ethical and clinical genetic indication criteria, Grant provider: COST. Period of research project: 2014-2017.

15-34904A  Next generation sequencing in early Diagnosis and individualised therapy of hypertrophic cardiomyopathies, Grant provider: AZV ČR. Period of research project: 2015-2018.

15-27682A Next generation sequencing for early diagnosis and individualized treatment of dilated cardiomyopathy and related forms of cardiomyopathy,Grant provider: MZ0 - Ministerstvo zdravotnictví (MZ). Hlavní příjemce: Institut klinické a experimentální medicíny. Period of research project: 2015-2018.

CZ.2.16/3.1.00/24022  Improvement of early Diagnosis, prevention and therapy of severe reproductive-, prenatal and postnatal developmental disorders in children and adults: sustainability period, Grant provider: Operační program Praha Konkurenceschopnost. Period of research project: 2013-2018.

NF-CZ11-PDP-3-003-2014 National Coordinating Centre for rare diseases at the Motol University Hospital, Grant provider: Norway Grants. Period of research project: 2014-2017.

 

Masaryk University – CEITEC

Projekt NGS-PTL (Next Generation Sequencing Platform for Targeted Personalized Therapy of Leukemia, FP7, číslo 306242) – the project goal is the application of the most modern approaches for genomics analysis for identification of novel diagnostics and prognostics biomarkers of leukemia and subsequent patient stratification and more effective application of therapeutical methodologies.

Projekt ALKATRAS (ALK activation as a target of translational science: break free from cancer, H2020, číslo 675712 ) – its main aim is to clarify yet unknown mechanisms of ALK-induced tumorigenesis and describe more specific role of oncogene ALK (anaplastic lymphoma kinase) in oncologic diseases like lymphomas, neuroblastomas and non-cell lung carcinoma (NSCLC).

 

University Hospital Brno

Project supported by Agency of biomedical research (AZV, number 15-30015A ) entitled as „Analysis of clonal heterogeneity of chronic lymphocytic leukemia using next-generation sequencing of B-cell receptor gene. National study.“ has an ambitious aim to establish technology for high throughput sequencing of immunoglobulin genes and perform national screening of newly diagnosed CLL patients.

New-generation sequencing is used as a tool within the project entitled „Generation and development of genetic defects in leukemia“ (AZV, number 15-10035S) for identification of genetic disorders contributing to clonal evolution of leukemia and for study of B-cell receptor mediated signalling that both play important role in cellular response to external stimuli and thus contribute to clonal evolution.

 

Institute of Molecular and Translational Medicine

ÚMTM addresses currently a number of international (EATRIS, FP7 INFLACARE, BBMRI etc.) and national grant projects (TACR, GACR, AZV etc.) focused on translational medicine, see more imtm.cz.


Resources

Institutes of First and Second Faculty of Medicine at Charles University in Prague

  • Robotic workstation Tecan Freedom EVO® 150
  • Massive parallel sequencers Illumina HiSeq1500 a SOLiD4 + equipment for sample preparation and bioinformatics data analysis
  • Capillary sequencers ABI 3500xL, ABI3100 Avant a ABI PRISM 7000
  • System for DNA microarrays (Affymetrix, Agilent)
  • Quantitative PCR 7900HT Fast Real-Time PCR Applied Biosystem
  • LightCycler 480 Roche
  • Software specialists and bioinformaticians necessary for the operation of infrastructure

CEITEC MU Brno

  • Massive paralel sequencers (Illumina MiSeq and Illumina NextSeq 500)
  • Systems for preparation of amplicon sequencing libraries (Wafergen SmartChip, Fluidigm AccessArray)
  • Capillary sequencer
  • System for DNA microarrays (Affymetrix, Agilent)
  • rReal-time qPCR and digital PCR (Life Technologies QuantStudio 12k, Life Technologies QuantStudio 3D, BioRad QX200, Wafergen SmartCycler)
  • System for RNA/DNA amplification from individual cells (Fluidigm C1)
  • Data storage 300TB and computational servers
  • Flow cytometer and sorter (BD FACS Aria Fusion and BD FACS Verse)
  • Fluorescent microscopes (Olympus ScanR, Incucyte ZOOM)
  • Magnetic cell separator (Milteniy AutoMACS)
  • Laser microdissection

University Hospital Brno

  • Capillary sequencer (LifeTechnologies)
  • System for DNA microarrays (Affymetrix)
  • Real-time qPCR (Life Technologies, Qiagen)
  • System for RNA/DNA amplification
  • Cell sorter (BD FACS Arial II)
  • Flow cytometer (BD FACS Canto II)

Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University Prague and the University Hospital in Pilsen

  • Massive parallel sequencers (Life Technologies IonTorrent, Illumina MiSeq)
  • Capillary sequencers (Life Technologies)
  • DNA microarray systems (Agilent, Innopsys)
  • Real-time qPCR (Corbett Research, Qiagen)
  • Fluorescent mikroscopes (Olympus)
  • Data storage and computational servers
  • DNA/RNA amplification systems

Institute of Molecular and Translational Medicine

  • Massively parallel sequencers (Illumina MiSeq and HiSeq Illumina, Qiagen PyroMark Q96, Roche GS Junior, Sequenom)
  • Systems for automated preparation of sequencing libraries (Illumina Neoprep)
  • Robotic system for nucleic acid isolation (Roche MagNA Pure 96 MagCore)
  • Microarray system (Affymetrix)
  • Real-Time qPCR (Roche LC 480, LC 1536, Cobas 4800, Eppendorf, BioRad CFX96)
  • Data storage and computer servers
  • The flow cytometer and sorter (BD FACS Aria Fusion II)
  • Fluorescence microscope (Olympus BX60)
  • Laser microdissection

NCMG Scientific Advisory Board

Dr. Robert Ivánek
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Robert Ivánek received his doctoral degree in Molecular Biology and Genetics from the Charles University, Prague, Czech Republic in 2009. During last two years of his PhD studies he was running the Genomics Core facility at the Institute of Molecular Genetics, Prague, Czech Republic. From 2009 till 2012 he trained as postdoctoral fellow at Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland. In 2012 he became Head of Bioinformatics Core Facility at Department of Biomedicine (DBM), University of Basel, Basel Switzerland. In his scientific career he contributed to identification of molecular basis for several human rare diseases by applying novel combination of genomic tools and bioinformatic approaches. He also investigate the effect of sequence variation on transcription factor binding, DNA methylation and chromatin structure. His team at DBM provides bioinformatic expertise and training for analysis of high-throughput genomic data in biomedical field.

Dr. Jacek Majewski
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Dr. Jacek Majewski obtained his Bachelor’s degree in physics and Master’s degree in electrical engineering from Stanford University, Palo Alto, USA in 1991. Following a short adventure in the real world, he returned to academics and in 1999 received a PhD. in Biological Sciences from Wesleyan University, USA. His post-doctoral training with Dr. Jurg Ott at the Rockefeller University in New York focused on statistical genetics and methodologies for identifying variants underlying human genetic disease. At the onset of the human genome era, his combined background in quantitative sciences, biology and statistics opened new venues into the field of genome sequence analysis. He is currently an Associate Professor at the Department of Human Genetics, McGill University, Montreal, Canada, Medical Scientist at the McGill University Health Centre, and Scientist at the Shriners Hospital. His research centers on the analysis of next generation sequencing data, with specific applications to human genetic disease and cancer research. He holds grants from major Canadian and US funding agencies and has co-authored over 220 publications.

Dr. Vladimír Beneš
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Vladimír Beneš, Head of GeneCore, studied in Prague, the Czech Republic. He has been at EMBL since 1994 when he came as a postdoc to Ansorge group in the Biochemical Instrumentation Unit. Vladimir worked on development of methodology supporting genome-wide high-throughput sequencing, mainly in the sample processing part. In 2001 he was appointed to build EMBL Genomics Core Facility, a technology orientated service laboratory founded to assist researchers with functional genomics projects. This facility is currently utilizing mainly massively parallel sequencing & microarray technologies as well as qPCR. Among Vladimir’s tasks belong also assessment of new technologies and functional genomics applications, in particular their suitability for implementation in the environment of core facilities. He is also strongly involved in teaching of methods applied in this field.

Dr. Jiří Zavadil
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Jiří Zavadil received his doctoral degree in Biomedicine/Molecular Genetics in 1998 from the Charles University, Prague, Czech Republic. From 1998 to 2003, he trained as postdoctoral fellow at Mount Sinai School of Medicine and at Albert Einstein College of Medicine, in New York. Between 2003 and 2012 he was Assistant/Associate Professor of Pathology, Director of the NYU Genome Technology Center and Faculty Member of the NYU Center for Health Informatics and Bioinformatics at the New York University Langone Medical Center, New York. In 2012, he became Head of the Molecular Mechanisms and Biomarkers Group at the WHO International Agency for Research on Cancer (IARC), Lyon, France. In his scientific career he has studied human pathologies including cancer, using innovative workflows and methodologies in genomics and bioinformatics. His work has been documented by dozens (of 110+ total) lead-authored or co-authored publications. His team at IARC focuses on deciphering molecular mechanisms of carcinogenesis, with a particular emphasis on understanding the effects of environmental causes of cancer, and on the impact of carcinogens on critical genome alterations leading to cancer cell phenotype outcomes.

 

Publications

Publications with the support of NCMG for the year 2017

Publications with the support of NCMG for the year 2016

Institute for Inherited Metabolic Disorders, First Faculty of Medicine at Charles University in Prague, General University Hospital and BIOCEV

  • Baresova V, Krijt M, Skopova V, et al (2016) CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation. Mol Genet Metab 119:270–277. doi: 10.1016/j.ymgme.2016.08.004
  • Stránecký V, Neřoldová M, Hodaňová K, et al (2016) Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci.
  • Hartmannová H, Piherová L, Tauchmannová K, et al (2016) Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. Hum Mol Genet. doi: 10.1093/hmg/ddw245
  • Ng YS, Alston CL, Diodato D, et al (2016) The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. J Med Genet. doi: 10.1136/jmedgenet-2016-103910
  • Berkovic SF, Staropoli JF, Carpenter S, et al (2016) Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology 87:579–84. doi: 10.1212/WNL.0000000000002943
  • Bolar NA, Golzio C, Živná M, et al (2016) Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. Am J Hum Genet 99:174–87. doi: 10.1016/j.ajhg.2016.05.028
  • Neřoldová M, Stránecký V, Hodaňová K, et al (2016) Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. Pharmacogenomics 17:1405–14. doi: 10.2217/pgs-2016-0071
  • Blumenstiel B, DeFelice M, Birsoy O, et al (2016) Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease. J Mol Diagn 18:566–71. doi: 10.1016/j.jmoldx.2016.03.003
  • Týcová I, Sulková SD, Štěpánková J, et al (2016) Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis. Am J Physiol Endocrinol Metab 311:E720–E729. doi: 10.1152/ajpendo.00517.2015
  • Hrubá P, Brabcová I, Gueler F, et al (2015) Molecular diagnostics identifies risks for graft dysfunction despite borderline histologic changes. Kidney Int 88:785–95. doi: 10.1038/ki.2015.211
  • Kousal B, Dudakova L, Gaillyova R, et al (2016) Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. Graefe’s Arch Clin Exp Ophthalmol 1–7. doi: 10.1007/s00417-016-3358-2
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  • Kmoch S, Majewski J, Ramamurthy V, et al (2015) Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nat Commun 6:5614. doi: 10.1038/ncomms6614
  • Neřoldová M, Fraňková S, Stránecký V, et al (2015) Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy. Clin Genet 87:96–98. doi: 10.1111/cge.12346
  • Vlckova M, Simandlova M, Zimmermann P, et al (2015) A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes. Eur J Med Genet 58:550–555. doi: 10.1016/j.ejmg.2015.09.004
  • García-Cazorla A, Oyarzabal A, Fort J, et al (2014) Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients. Hum Mutat 35:470–477. doi: 10.1002/humu.22513
  • Park EJ, Grabińska KA, Guan Z, et al (2014) Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. Cell Metab 20:448–457. doi: 10.1016/j.cmet.2014.06.016
  • Vondráčková A, Veselá K, Kratochvílová H, et al (2014) Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. Eur J Hum Genet 22:431–434. doi: 10.1038/ejhg.2013.148
  • Kolářová H, Tesařová M, Švecová Š, et al (2014) Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene. Folia Biol (Praha) 60:235–43.
  • Ehling R, Nosková L, Stránecký V, et al (2013) Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V. J Neurol Sci 326:75–82. doi: 10.1016/j.jns.2013.01.017
  • Kirby A, Gnirke A, Jaffe DB, et al (2013) Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 45:299–303. doi: 10.1038/ng.2543
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  • Stránecký V, Hoischen A, Hartmannová H, et al (2013) Mutations in ANTXR1 Cause GAPO Syndrome. Am J Hum Genet 92:792–799. doi: 10.1016/j.ajhg.2013.03.023
  • Hartmannova H, Kubanek M, Sramko M, et al (2013) Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene. Circ Cardiovasc Genet 6:543–551. doi: 10.1161/CIRCGENETICS.113.000245
  • van de Steeg E, Stránecký V, Hartmannová H, et al (2012) Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest 122:519–528. doi: 10.1172/JCI59526
  • Nosková L, Stránecký V, Hartmannová H, et al (2011) Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis. Am J Hum Genet 89:241–252. doi: 10.1016/j.ajhg.2011.07.003
  • Sip M, Bystricka D, Kmoch S, et al (2010) Detection of viral infections by an oligonucleotide microarray. J Virol Methods 165:64–70. doi: 10.1016/j.jviromet.2010.01.004
  • Živná M, Hůlková H, Matignon M, et al (2009) Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure. Am J Hum Genet 85:204–213. doi: 10.1016/j.ajhg.2009.07.010
  • Čížková A, Stránecký V, Ivánek R, et al (2008) Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. BMC Genomics 9:38. doi: 10.1186/1471-2164-9-38
  • Čížková A, Stránecký V, Mayr JA, et al (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40:1288–1290. doi: 10.1038/ng.246
  • Hervouet E, Cizkova A, Demont J, et al (2008) HIF and reactive oxygen species regulate oxidative phosphorylation in cancer. Carcinogenesis 29:1528–1537. doi: 10.1093/carcin/bgn125
  • Hřebíček M, Mrázová L, Seyrantepe V, et al (2006) Mutations in TMEM76* Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). Am J Hum Genet 79:807–819. doi: 10.1086/508294
  • Bystricka D, Lenz O, Mraz I, et al (2005) Oligonucleotide-based microarray: A new improvement in microarray detection of plant viruses. J Virol Methods 128:176–182. doi: 10.1016/j.jviromet.2005.04.009
  • Gwilliam R, Liskova P, Filipec M, et al (2005) Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes the VSX1 Gene. Investig Opthalmology Vis Sci 46:4480. doi: 10.1167/iovs.05-0269
  • Stibůrková B, Majewski J, Hodaňová K, et al (2003) Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes. Eur J Hum Genet 11:145–154. doi: 10.1038/sj.ejhg.5200937
  • Stibůrková B, Majewski J, Sebesta I, et al (2000) Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. Am J Hum Genet 66:1989–1994. doi: 10.1086/302936
  • Kmoch S, Brynda J, Asfaw B, et al (2000) Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. Hum Mol Genet 9:1779–1786. doi: 10.1111/j.1523-1755.2005.00560.x
  • Kmoch S, Hartmannová H, Stibůrková B, et al (2000) Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. Hum Mol Genet 9:1501–1513.
  • Kmoch S, Brynda J, Asfaw B, et al (2000) Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. Hum Mol Genet 9:1779–1786. doi: 10.1111/j.1523-1755.2005.00560.x

Second Faculty of Medicine at Charles University, Motol University Hospital

  • Weidler S, Stopsack KH, Hammermann J, et al (2016) A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening. J Cyst Fibros. doi: 10.1016/j.jcf.2016.07.002
  • Mizzi C, Dalabira E, Kumuthini J, et al (2016) A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLoS One 11:e0162866. doi: 10.1371/journal.pone.0162866
  • Svojgr K, Sumerauer D, Puchmajerova A, et al (2016) Fanconi anemia with biallelic FANCD1/BRCA2 mutations – Case report of a family with three affected children. Eur J Med Genet 59:152–157. doi: 10.1016/j.ejmg.2015.11.013
  • Nemcikova M, Vejvalkova S, Fencl F, et al (2016) A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation—a review of the literature. Eur J Pediatr 175:587–592. doi: 10.1007/s00431-015-2658-6
  • Hajduková L, Sobek O, Prchalová D, et al (2015) Biomarkers of Brain Damage: S100B and NSE Concentrations in Cerebrospinal Fluid—A Normative Study. Biomed Res Int 2015:1–7. doi: 10.1155/2015/379071
  • Kessler K, Wunderlich I, Uebe S, et al (2015) DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. Sci Rep 5:11649. doi: 10.1038/srep11649
  • Cordeddu V, Yin JC, Gunnarsson C, et al (2015) Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat 36:1080–1087. doi: 10.1002/humu.22834
  • Bulik-Sullivan BK, Loh P-R, Finucane HK, et al (2015) LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet 47:291–5. doi: 10.1038/ng.3211
  • Renton AE, Pliner HA, Provenzano C, et al (2015) A genome-wide association study of myasthenia gravis. JAMA Neurol 72:396–404. doi: 10.1001/jamaneurol.2014.4103
  • Vilhjálmsson BJ, Yang J, Finucane HK, et al (2015) Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Am J Hum Genet 97:576–592. doi: 10.1016/j.ajhg.2015.09.001
  • Paternoster L, Standl M, Waage J, et al (2015) Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. Nat Genet 47:1449–56. doi: 10.1038/ng.3424
  • Obeidova L, Seeman T, Elisakova V, et al (2015) Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. BMC Med Genet 16:116. doi: 10.1186/s12881-015-0261-3
  • Panagiotakaki E, De Grandis E, Stagnaro M, et al (2015) Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. Orphanet J Rare Dis 10:123. doi: 10.1186/s13023-015-0335-5
  • Dudakova L, Palos M, Jirsova K, et al (2015) Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent. Eur J Hum Genet 23:1581–1583. doi: 10.1038/ejhg.2015.28
  • Drabova J, Seemanova E, Hancarova M, et al (2015) Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8. Am J Med Genet A 167A:837–41. doi: 10.1002/ajmg.a.36957
  • Jolly LA, Nguyen LS, Domingo D, et al (2015) HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. Hum Mol Genet 24:3335–3347. doi: 10.1093/hmg/ddv083
  • Hancarova M, Krepelova A, Puchmajerova A, et al (2015) Hypophosphatasia due to uniparental disomy. Bone 81:765–766. doi: 10.1016/j.bone.2015.04.041
  • Basak A, Hancarova M, Ulirsch JC, et al (2015) BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. J Clin Invest 125:2363–2368. doi: 10.1172/JCI81163
  • Vlckova M, Simandlova M, Zimmermann P, et al (2015) A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes. Eur J Med Genet 58:550–555. doi: 10.1016/j.ejmg.2015.09.004
  • Sousa SB, Jenkins D, Chanudet E, et al (2014) Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet 46:70–6. doi: 10.1038/ng.2829

University Hospital Brno and Masaryk University - CEITEC

  • Réblová K, Kulhánek P, Fajkusová L (2015) Computational study of missense mutations in phenylalanine hydroxylase. J Mol Model 21:70. doi: 10.1007/s00894-015-2620-6
  • Baliakas P, Hadzidimitriou A, Agathangelidis A, et al (2015) Prognostic relevance of MYD88 mutations in CLL: the jury is still out. Blood 126:1043–4. doi: 10.1182/blood-2015-05-648634
  • Navrkalova V, Kafkova LR, Divoky V, Pospisilova S (2015) Oxidative stress as a therapeutic perspective for ATM-deficient chronic lymphocytic leukemia patients. Haematologica 100:994–6. doi: 10.3324/haematol.2015.130260
  • Baliakas P, Agathangelidis A, Hadzidimitriou A, et al (2015) Not all IGHV3-21 chronic lymphocytic leukemias are equal: prognostic considerations. Blood 125:856–9. doi: 10.1182/blood-2014-09-600874
  • Mansouri L, Sutton L-A, Ljungström V, et al (2015) Functional loss of IκBε leads to NF-κB deregulation in aggressive chronic lymphocytic leukemia. J Exp Med 212:833–43. doi: 10.1084/jem.20142009
  • Te Raa GD, Derks IAM, Navrkalova V, et al (2015) The impact of SF3B1 mutations in CLL on the DNA-damage response. Leukemia 29:1133–42. doi: 10.1038/leu.2014.318
  • Malcikova J, Stano-Kozubik K, Tichy B, et al (2015) Detailed analysis of therapy-driven clonal evolution of TP53 mutations in chronic lymphocytic leukemia. Leukemia 29:877–85. doi: 10.1038/leu.2014.297
  • Sutton L-A, Ljungström V, Mansouri L, et al (2015) Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting. Haematologica 100:370–6. doi: 10.3324/haematol.2014.109777
  • Kantorova B, Malcikova J, Smardova J, et al (2015) TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods. Tumour Biol 36:3371–80. doi: 10.1007/s13277-014-2971-0
  • Baliakas P, Hadzidimitriou A, Sutton L-A, et al (2015) Recurrent mutations refine prognosis in chronic lymphocytic leukemia. Leukemia 29:329–36. doi: 10.1038/leu.2014.196
  • Te Raa GD, Malčiková J, Mraz M, et al (2014) Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach. Br J Haematol 167:565–9. doi: 10.1111/bjh.13006
  • Shugay M, Britanova O V, Merzlyak EM, et al (2014) Towards error-free profiling of immune repertoires. Nat Methods 11:653–5. doi: 10.1038/nmeth.2960
  • Plevova K, Francova HS, Burckova K, et al (2014) Multiple productive immunoglobulin heavy chain gene rearrangements in chronic lymphocytic leukemia are mostly derived from independent clones. Haematologica 99:329–38. doi: 10.3324/haematol.2013.087593
  • Malcikova J, Pavlova S, Kozubik KS, Pospisilova S (2014) TP53 mutation analysis in clinical practice: lessons from chronic lymphocytic leukemia. Hum Mutat 35:663–71. doi: 10.1002/humu.22508
  • Malcikova J, Stalika E, Davis Z, et al (2014) The frequency of TP53 gene defects differs between chronic lymphocytic leukaemia subgroups harbouring distinct antigen receptors. Br J Haematol 166:621–5. doi: 10.1111/bjh.12893
  • Kminkova J, Mraz M, Zaprazna K, et al (2014) Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. Carcinogenesis 35:992–1002. doi: 10.1093/carcin/bgt396
  • Skálová D, Zídková J, Voháňka S, et al (2013) CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. PLoS One 8:e82549. doi: 10.1371/journal.pone.0082549
  • Strefford JC, Sutton L-A, Baliakas P, et al (2013) Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2. Leukemia 27:2196–9. doi: 10.1038/leu.2013.98
  • Kaucká M, Plevová K, Pavlová S, et al (2013) The planar cell polarity pathway drives pathogenesis of chronic lymphocytic leukemia by the regulation of B-lymphocyte migration. Cancer Res 73:1491–501. doi: 10.1158/0008-5472.CAN-12-1752
  • Dolezalova D, Mraz M, Barta T, et al (2012) MicroRNAs Regulate p21Waf1/Cip1 Protein Expression and the DNA Damage Response in Human Embryonic Stem Cells. Stem Cells 30:1362–1372. doi: 10.1002/stem.1108
  • Tichý L, Freiberger T, Zapletalová P, et al (2012) The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. Atherosclerosis 223:401–8. doi: 10.1016/j.atherosclerosis.2012.05.014
  • Agathangelidis A, Darzentas N, Hadzidimitriou A, et al (2012) Stereotyped B-cell receptors in one-third of chronic lymphocytic leukemia: a molecular classification with implications for targeted therapies. Blood 119:4467–75. doi: 10.1182/blood-2011-11-393694
  • Pospisilova S, Gonzalez D, Malcikova J, et al (2012) ERIC recommendations on TP53 mutation analysis in chronic lymphocytic leukemia. Leukemia 26:1458–61. doi: 10.1038/leu.2012.25
  • Mraz M, Dolezalova D, Plevova K, et al (2012) MicroRNA-650 expression is influenced by immunoglobulin gene rearrangement and affects the biology of chronic lymphocytic leukemia. Blood 119:2110–3. doi: 10.1182/blood-2011-11-394874
  • Dušková L, Kopečková L, Jansová E, et al (2011) An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. Atherosclerosis 216:139–45. doi: 10.1016/j.atherosclerosis.2011.01.023
  • Vrzalová Z, Hrubá Z, Hrabincová ES, et al (2011) Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia. Eur J Med Genet 54:112–117. doi: 10.1016/j.ejmg.2010.10.005
  • Trbusek M, Smardova J, Malcikova J, et al (2011) Missense mutations located in structural p53 DNA-binding motifs are associated with extremely poor survival in chronic lymphocytic leukemia. J Clin Oncol 29:2703–8. doi: 10.1200/JCO.2011.34.7872
  • Vargova K, Curik N, Burda P, et al (2011) MYB transcriptionally regulates the miR-155 host gene in chronic lymphocytic leukemia. Blood 117:3816–25. doi: 10.1182/blood-2010-05-285064
  • Jerábková B, Kopecková L, Bucková H, et al (2010) Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. J Dermatol Sci 59:136–40. doi: 10.1016/j.jdermsci.2010.05.007
  • Jerábková B, Marek J, Bucková H, et al (2010) Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure. Br J Dermatol 162:1004–13. doi: 10.1111/j.1365-2133.2009.09626.x
  • Zenz T, Vollmer D, Trbusek M, et al (2010) TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations. Leukemia 24:2072–9. doi: 10.1038/leu.2010.208
  • Hrncirova K, Lengerova M, Kocmanova I, et al (2010) Rapid detection and identification of mucormycetes from culture and tissue samples by use of high-resolution melt analysis. J Clin Microbiol 48:3392–4. doi: 10.1128/JCM.01109-10
  • Kotaskova J, Tichy B, Trbusek M, et al (2010) High Expression of Lymphocyte-Activation Gene 3 (LAG3) in Chronic Lymphocytic Leukemia Cells Is Associated with Unmutated Immunoglobulin Variable Heavy Chain Region (IGHV) Gene and Reduced Treatment-Free Survival. J Mol Diagnostics 12:328–334. doi: 10.2353/jmoldx.2010.090100
  • Malcikova J, Tichy B, Damborsky J, et al (2010) Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. Biol Chem 391:197–205. doi: 10.1515/bc.2010.027

Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University Prague and the University Hospital in Pilsen

  • Pomahačová R, Sýkora J, Zamboryová J, et al (2016) First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic. J Pediatr Endocrinol Metab 29:749–52. doi: 10.1515/jpem-2015-0255
  • Dvorak P, Lysak D, Vokurka S, et al (2015) Allogeneic stem cell transplantation can improve outcome of AML patients without complete cytogenetic response after induction and consolidation treatment. Neoplasma 62:140–5.
  • Hirmerova J, Seidlerova J, Subrt I (2014) The association of factor V Leiden with various clinical patterns of venous thromboembolism--the factor V Leiden paradox. QJM 107:715–720. doi: 10.1093/qjmed/hcu055
  • Dvorak P, Lysak D, Vokurka S, et al (2014) The translocation t(2;11)(p21;q23) without MLL gene rearrangement--a possible marker of good prognosis in myelodysplastic syndrome patients. Hematol Oncol 32:82–6. doi: 10.1002/hon.2089
  • Hruba M, Subrt I (2013) Multiclonal monoallelic 13q14 interstitial deletion in chronic lymphocytic leukemia. Leuk Lymphoma 54:413–6. doi: 10.3109/10428194.2012.702902
  • Hruba M, Dvorak P, Weberova L, Subrt I (2012) Independent coexistence of clones with 13q14 deletion at reciprocal translocation breakpoint and 13q14 interstitial deletion in chronic lymphocytic leukemia. Leuk Lymphoma 53:2054–62. doi: 10.3109/10428194.2012.668682
  • Brozková D, Mazanec R, Haberlová J, et al (2010) Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. Genet Test Mol Biomarkers 14:3–7. doi: 10.1089/gtmb.2009.0093
  • Novotný Z, Krízan J, Síma R, et al (2009) Leukaemia inhibitory factor (LIF) gene mutations in women diagnosed with unexplained infertility and endometriosis have a negative impact on the IVF outcome. A pilot study. Folia Biol (Praha) 55:92–7.
  • Hradecky L, Subrt I, Ulcova-Gallova Z (2009) Urgent termination of pregnancy in pre-eclampsia and panel of antiphospholipid antibodies. Am J Reprod Immunol 62:412–7. doi: 10.1111/j.1600-0897.2009.00759.x
  • Dvorak P, Hruba M, Subrt I (2009) Development of acute myeloid leukemia associated with Ph-negative clone with inv(3)(q21q26) during imatinib therapy for chronic myeloid leukemia. Leuk Res 33:860–1. doi: 10.1016/j.leukres.2008.09.021
  • Subrt I, Ulcova-Gallova Z, Bibkova K, et al (2008) Recurrent pregnancy loss and frequency of eight antiphospholipid antibodies and genetic thrombophilic factors in Czech women. Am J Reprod Immunol 59:193–200. doi: 10.1111/j.1600-0897.2007.00554.x
  • Pesta M, Topolcan O, Holubec L, et al (2007) Clinicopathological assessment and quantitative estimation of the matrix metalloproteinases MMP-2 and MMP-7 and the inhibitors TIMP-1 and TIMP-2 in colorectal carcinoma tissue samples. Anticancer Res 27:1863–7.
  • Sýkora J, Subrt I, Dìdek P, et al (2006) Cytokine tumor necrosis factor-alpha A promoter gene polymorphism at position -308 G-->A and pediatric inflammatory bowel disease: implications in ulcerative colitis and Crohn’s disease. J Pediatr Gastroenterol Nutr 42:479–87. doi: 10.1097/01.mpg.0000221917.80887.9e
  • Cerna M, Holubec L, Pesta M, et al (2006) Quantitative estimation of CEA and CK20 expression in tumour tissue of colorectal cancer and its liver metastases with reverse transcription and real-time PCR. Anticancer Res 26:803–8.
  • Mayer O, Simon J, Holubec L, et al (2003) Fenofibrate-induced hyperhomocysteinemia may be prevented by folate co-administration. Eur J Clin Pharmacol 59:367–71. doi: 10.1007/s00228-003-0616-0
  • Mayer O, Simon J, Rosolová H, et al (2002) The effects of folate supplementation on some coagulation parameters and oxidative status surrogates. Eur J Clin Pharmacol 58:1–5. doi: 10.1007/s00228-001-0421-6

Institute of Molecular and Translational Medicine

Publications by IMTM and supported NCLG in 2016, http://imtm.cz/publications

  • Koudelakova V, Trojanec R, Vrbkova J, et al (2016) Frequency of chromosome 17 polysomy in relation to CEP17 copy number in a large breast cancer cohort. Genes Chromosomes Cancer 55:409–17. doi: 10.1002/gcc.22337
  • Vojta P, Kokáš F, Husičková A, et al (2016) Whole transcriptome analysis of transgenic barley with altered cytokinin homeostasis and increased tolerance to drought stress. N Biotechnol 33:676–91. doi: 10.1016/j.nbt.2016.01.010
  • Jarosova M, Volejnikova J, Porizkova I, et al (2016) Chromosomal aberrations in childhood acute lymphoblastic leukemia: 15-year single center experience. Cancer Genet 209:340–347. doi: 10.1016/j.cancergen.2016.06.004
  • Kishore A, Žižková V, Kocourková L, et al (2016) Association Study for 26 Candidate Loci in Idiopathic Pulmonary Fibrosis Patients from Four European Populations. Front Immunol 7:274. doi: 10.3389/fimmu.2016.00274
  • Klaskova E, Drabek J, Hobzova M, et al (2016) Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. doi: 10.5507/bp.2016.038

Open Access

  • NCMG is a distributed multi-centered, nation-wide research infrastructure. The expertise and instrumentation available within NCMG can be used by the users from the Czech Republic and from abroad as well. It can be also used by the commercial sector.
  • NCMG provides transparent information to their (potential) users on the access rules.
  • NCMG through individual nodes (core facilities) support their users by providing an access to its instrumentation, analytical expertise, bioinformatic and statistical support, education and training and by providing an access to well defined cohorts of patients, control individuals and various clinical materials.
  • Users are obliged to acknowledge NCMG in any output (publications, patents, public presentations) that were created by using the NCMG instrumentation or expertise.
    • We acknowledge the CF [name of the CF] supported by the NCMG research infrastructure (LM2015091 funded by MEYS CR) for their support with obtaining scientific data presented in this paper.
  • Users have to adapt to the concrete access rules of the core facility they visit.