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162

I S S U E S E V E N

H O R I Z O N 2 0 2 0 P R O J E C T S : P O R TA L

www.horizon2020projects.com

P R O F I L E

M E TA B O L I C D I S E A S E S

T

he Laboratory of Metabolomics is a joint facility of the

Institute of Molecular and Translational Medicine at Palacky

University, Olomouc. Professor Tomas Adam is the research

team leader. He has a wealth of experience in diagnosing

metabolic diseases, as well as in the development of diagnostic

biochemical methods based on modern separation and mass

spectrometry techniques, for which the laboratory is well equipped

with a range of instruments for the analysis of complex biological

samples. Adam heads a multidisciplinary team of biochemists,

analytical chemists, biologists and statisticians working on

metabolomic studies for human biomedical applications.

Besides research projects, a part of the team diagnoses in-born

errors of the metabolism and performs newborn screening for the

region of Moravia, which has approximately three million inhabitants.

For all infants born in Czech Republic, laboratory screening for ten

inherited metabolic diseases is performed by tandem mass

spectrometry. Each sample is taken by using the dried blood spot

method. The aim of newborn screening is the rapid diagnosis and

early treatment of infants with these diseases. Our screening

centre wants to serve this goal, as do all other interested clinics,

doctors, birth attendants and paediatric outpatient departments.

Collaboration

The laboratory collaborates with academic institutions,

pharmaceutical companies, analytical platforms and scientific

software developers. Its main research topics pertain to the field

of clinical applications of targeted and untargeted metabolomics

of plasma, cells, tissues and urine, to therapeutic drug monitoring

and drug metabolisation studies, and to the analysis of small

molecules by the use of profiling separation methods coupled

with mass spectrometry detection.

The most important past projects of the laboratory include:

n

Biomedicine for Regional Development and Human Resources.

In collaboration with the Institute of Organic Chemistry and

Biochemistry AS CR, v.v.i., Prague, Czech Republic and the

Institute of Chemical Technology, Prague, Czech Republic;

n

Diagnostic tools for inherited diseases of the purine and

pyrimidine metabolism. In collaboration with Dr A H Simmonds

(Purine Research Laboratory, Guy’s Hospital, London, UK);

n

Defects of

de novo

synthesis of purines – metabolic study. In

collaboration with David A Patterson (Department of Biological

Sciences, University of Denver, USA);

n

Development of the treatment of Diamond-Blackfan anaemia

patients. In collaboration with Professor D Pospisilova

(Department of Paediatrics, Olomouc University Hospital, Faculty

of Medicine and Dentistry, Palacky University, Czech Republic);

n

Diagnosing inherited metabolic disorders by metabolomic

approaches. In collaboration with Professor P Bruheim (NTNU,

Trondheim, Norway) and SINTEF (Oslo, Norway) and Dr Silas

Villas-Boas (University of Auckland, New Zeland);

n

Personalised treatment of chronic myeloproliferative disorders

and myelodysplastic syndrome – a cellular metabolomics

study. In collaboration with Novartis International AG and

Professor E Faber (Department of Haemato-Oncology,

Olomouc University Hospital, Faculty of Medicine and Dentistry,

Palacky University, Czech Republic);

n

Studies of genes and molecular mechanisms in treatment of

patients with chronic myeloid leukaemia. In collaboration with

Professor K Indrak (Department of Haemato-Oncology, Palacky

University, Czech Republic) and Dr V Divoky (Department of

Biology, Palacky University, Czech Republic);

n

Novel biochemical markers for various types of cancer. In

collaboration with Professor B Melichar (Department of

Oncology, Olomouc University Hospital, Faculty of Medicine

and Dentistry, Palacky University, Czech Republic);

n

Disease mechanism of adenylosuccinase deficient

patients; and

n

Molecular and biochemical cystinuria study. In collaboration

with Dr L Kozak, (Faculty Hospital, Brno, Czech Republic) and

Dr S Stastna (Institute for Inherited Metabolic Diseases,

Charles University in Prague, Czech Republic).

Methods

In the past, many methods for diagnosing nucleotide and thiol

metabolism disorders on an extracellular level have been

developed. Another field of interest has been drug metabolism –

and the development of new methods for the detection of genetic

changes causing adverse reactions.

Currently, our laboratory is focused on the targeted and

untargeted metabolomic analysis of body fluids (urine, blood,

etc.), tissues and cell extracts in order to study the changes in

metabolic pathways in patients suffering from different diseases.

We have developed multi-component analytical methods (using

comprehensive 2D gas chromatography and ultra-high-

performance liquid chromatography coupled with advanced mass

spectrometers) to detect a huge amount of metabolites. Our

research is also focused on the field of the development of new

methods for therapeutic drug monitoring using liquid

chromatography coupled with mass spectrometry.

The Laboratory of Metabolomics at the Institute of Molecular andTranslational

Medicine at Palacky University, Olomouc, is researching and screening to aid in

the diagnosis of metabolic disorders

Metabolomics for health