Genetic Predisposition to Disease
Conditions
Keywords
genomic profile, disease phenotype, proteomic profile, metabolomic profile, transcriptomic profile
Brief summary
This study will determine reference genomic, transcriptomic, proteomic and metabolomic profiles in Czech population and will evaluate its correlation with the disease phenotype.
Detailed description
This study will determine reference genomic, transcriptomic, proteomic and metabolomic profiles in Czech population. Initially, there will be 1000 healthy volunteers, with the planned expansion to 10.000 participants (healthy volunteers and patients with different types of disease). Formation of the reference database of healthy volunteers and their parameters will allow a correct interpretation of the potential pathological findings in patients. It is very important to obtain healthy controls from the region of the Czech Republic, Central Europe respectively; since it is not possible to reliably compere ethnically and geographically diverse populations, which have generated in a different context and where the diseases manifest with other etiology ad phenotype. Although, in the limited measure, the similar molecular data exist in foreign databases, these are not compiled from the inhabitants of the Czech Republic, Central Europe not even from Slavic population. Study participants may volunteer for archiving of remaining biological materials for future studies.
Interventions
GENETICBlood sample analysis
Nucleic acids sequencing, presence of proteins and metabolites.
OTHERHealth status
Health status will be examined by a physician and subject will complete a health status questionnaire.
OTHERRace and ethnicity
Subject will complete race and ethnicity questionnaire to make sure subjects are from the Czech population.
Sponsors
The Institute of Molecular and Translational Medicine, Czech Republic
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 68 Years
Healthy volunteers
Yes
Inclusion criteria
* age 18 - 68 years * (for the first 1100 subjects): * healthy volunteers without genetically dependent disease and without such a disease in a family * healthy volunteer without the preliminary evidence of civilizational diseases such as hypertension, diabetes, autoimmune and tumor diseases or acute infectional diseases; clinically manifesting cardiovascular or pulmonary disability. * subject without permanent of long-term medication in the time of biological sampling.
Exclusion criteria
* not complying with inclusion criteria
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Whole Genome (Exom) Sequencing of the Healthy Volunteers - establishment of the HEALTHY VOLUNTEER REFERENCE GENOME (min. 1000 individuals) | 72 months | Establishment of the Healthy Volunteers Whole Genome (Exom) Reference Database typical for the population of the Czech Republic/Central Europe. |
| Whole Genome (Exom) Sequencing of the patient groups with different diseases and their comparison to the HEALTHY VOLUNTEER REFERENCE GENOME | 72 months | Whole Genome (Exom) Sequencing of the patient populations presenting various diseases. Based on the comparison with the HEALTHY VOLUNTEER REFERENCE GENOME - determination of various genetic polymorphisms (single nucleotide polymorphisms, insertions, deletions, inversions, copy-number variations etc.) and giving these into correlation with disease phenotypes. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Evaluation of the correlation with the disease phenotype | 72 months | Based on the reference database of healthy volunteers in the Czech Republic a potential correlations will be evaluated among genomic, proteomic and metabolomic profiles of patients and the disease phenotypes. |
Countries
Czechia
Contacts
CONTACTMarian Hajduch, MD, PhD.
CONTACTMichaela Bendova, MSc.
STUDY_DIRECTORMarian Hajduch, MD, PhD.
IMTM, Palacky University in Olomouc, Faculty of Medicine and Dentistry
Outcome results
None listed