Genomics and Bioinformatics Laboratory

Head of the laboratory:

assoc. prof. Stanislav Kmoch, Ph.D.

Laboratory members:

Veronika Barešová, Ph.D. Viktor Stránecký, MSc.
Hana Hartmannová, Ph.D. Václava Škopová, MSc.
Kateřina Hodaňová, PhD Lenka Piherová, MSc.
Helena Hůlková, MD, Ph.D. Anna Přistoupilová, MSc.
Lenka Nosková, Ph.D. Miroslav Votruba
Alena Vrbacká-Čížková, Ph.D. Jana Sovová
Petr Vyleťal, Ph.D. Irena Knesplová
Marie Zikánová, Ph.D. Marie Kolářová
Mgr. Martina Živná, Ph.D . Lenka Kryšpínová

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, molecular biology and biochemistry with detailed clinic-pathologic evaluation of the studied diseases. The laboratory cooperates with multiple clinical centers both in the Czech Republic and abroad. In recent years this form of cooperation has led to series of important discoveries – e.g. determining of molecular basis of adenylosuccinate lyase deficiency (Kmoch et al, Hum.Mol.Gen, 2000), crystalline cataract (Kmoch et al, Hum.Mol.Gen, 2000), mucopolysaccharidosis type III (Hrebicek et al, Am J Hum Gen, 2006), mitochondrial encephalopathy (Čížková et al, Nature Genetics, 2008), group of familial nefropathies (Vyleťal et al, Kidney.Int., 2006, Živná et al, Am.J.Hum.Gent, 2009, Kirby et al, Nature Genetics, 2008), neurodegenerative diseases (Noskova et al Am.J.Hum.Genet, 2011; Ehling et al, J.Neurol.Sci., 2013), Rotor syndrome (van de Steeg et al. J.Clin.Invest., 2012), GAPO syndrome (Stránecký et al, Am.J.Hum.Genet, 2013), familial cardiomyopathy (Hartmann et al, Circ.Genetics, 2013) and disorders of Glycosylation (Park et al, Cell Metab., 2014). Research groups of the laboratory published> 80 articles that were> 1500 times cited.

Active solving of research projects gradually led to the concentration and organization of extensive international cooperation, collecting a unique set of patients with rare diseases and developing in house expertise, which, through a series of publications, were reflected in the overall quality of undergraduate and postgraduate studies. The work of our students has been regularly awarded in recent years, for example by Czech head and Bolzano prices, Arnold Beckmann prize or special prize of Society of Medical Genetics.

Research Group of Purine Metabolism Disorders

Group leader: Marie Zikánová, Ph.D.

The group studies the physiology and pathology of de novo purine synthesis (DNPS). Currently research is carried out in the framework of two projects. The aim of the first project is to establish methods for determining intermediates of DNPS and capturing new, yet undescribed DNPS disorders in patients with neurological impairments, which have not yet been precisely diagnosed. The second project focuses on research of purinosome, a multi-enzyme complex of DNPS enzymes. The goal of the project is to identify the essential components of purinosome and describe biochemical and molecular changes associated with its formation. Furthermore, the research focuses on the effect of mutations on purinosome function in cells deficient in individual stages of DNPS and also on the effects of chemotherapeutics. Detailed understanding of the physiology and pathology of purinosome formation will contribute to identification of novel pharmacological targets for therapeutic intervention in disease conditions associated with dysfunctional DNPS.

In the past, the group was interested in the deficiency of adenylosuccinate lyase (ADSL), a rare inherited metabolic disorder of DNPS and purine-nucleotide cycle. During investigations of patients, the group researches identified full ADSL coding sequence and its isoforms and put together unique set of patients with this disease. Further, the group described a new, previously unpublished, neonatal form of ADSL and carried out functional studies describing the relationship between genotype and phenotype in patients.

Research Group of Histopathology of Inborn Errors of Metabolism and Rare Diseases

Group leader: Helena Hůlková, MD, Ph.D.

Our aim is studying the morphological correlate of inherited metabolic disorders and other rare diseases in collaboration with all research and diagnostic teams at the institute with a special emphasis on lysosomal and mitochondrial pathology (see a list of publications Elleder, Sikora, Hůlková).

We participate in diagnosis of inherited metabolic disorders and some other rare diseases using bioptic and autoptic tissue samples.

Study of mechanisms of these disorders is performed on tissue and organ level using electron and light microscopy including confocal analyses.

Pathology on human diseases is extending to animal models.

We intensely collaborate on characterization of a phenotype of rare diseases identified on a molecular level in Laboratory of Genomics and Bioinformatics. We perform in situ analysis of relevant proteins in tissues of patients and in cultured fibroblasts.

Grant support:


Genetic architecture of impulsive violence

GAČR (2014-2016)


Center of mitochondrial biology and pathology (MITOCENTRUM)

GAČR (2014-2018)


Identification and characterization of genetic factors contributing to chronic kidney disease

MŠMT (2012-2015)

NS9759 *


Genetic causes of mitochondrial diseases due to deficiency of ATP synthase

IGA MZ(2009-2012)

NT14054 *

Targeted NEXT-GEN sequencing as a tool for identification of the new breast cancer susceptibility genes in high-risk patients

IGA MZ (2013-2015)


Identification of the genetic and molecular basis of rare genetic disorders using novel genomic methods

IGA MZ (2012-2015)

NT14025 *


Role of rare variants in genetic predisposition to statin myopathy

IGA MZ (2013-2015)


Molecular aspects of purinosome formation in physiological and pathological states

GA ČR (2012-2014)



New screening system of genetic defects of the de novo purines synthesis and its application in differential diagnosis of patients with psychomotor retardation of unknown etiology

MŠMT (2011-2013)



Characterization of the first mouse model of mucopolysaccharidosis type IIIC

IGA MZ (2012-2014)

Projects marked with an * are carried out in collaboration with main investigators from other institutions.