Assesment of Multiomics Profiles in Health and Disease - Corelation With the Disease Phenotype.
概览
- 阶段
- 不适用
- 干预措施
- Blood sample analysis
- 疾病 / 适应症
- Genetic Predisposition to Disease
- 发起方
- The Institute of Molecular and Translational Medicine, Czech Republic
- 入组人数
- 1100
- 试验地点
- 1
- 主要终点
- Whole Genome (Exom) Sequencing of the Healthy Volunteers - establishment of the HEALTHY VOLUNTEER REFERENCE GENOME (min. 1000 individuals)
- 状态
- 招募中
- 最后更新
- 2个月前
概览
简要总结
This study will determine reference genomic, transcriptomic, proteomic and metabolomic profiles in Czech population and will evaluate its correlation with the disease phenotype.
详细描述
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.
研究者
入排标准
入选标准
- •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.
排除标准
- •not complying with inclusion criteria
研究组 & 干预措施
Genomic, transcriptomic, proteomic, metabolomic profiles
Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects.
干预措施: Blood sample analysis
Genomic, transcriptomic, proteomic, metabolomic profiles
Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects.
干预措施: Health status
Genomic, transcriptomic, proteomic, metabolomic profiles
Determination of genomic, transcriptomic, proteomic, metabolomic profiles in subjects.
干预措施: Race and ethnicity
结局指标
主要结局
Whole Genome (Exom) Sequencing of the Healthy Volunteers - establishment of the HEALTHY VOLUNTEER REFERENCE GENOME (min. 1000 individuals)
时间窗: 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
时间窗: 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.
次要结局
- Evaluation of the correlation with the disease phenotype(72 months)