"10001 Dalmatians:" Croatia launches its national biobank.

摘要: In 2006, the Croatian Ministry of Science, Education, and Sports has completed review process more than 3000 research proposals for new 5-year funding cycle (2007-2011). The grant submission was similar to procedure used by European Commission (Framework Programmes, FP). program encouraged formation national-level consortia, which linked several projects from different institutions into greater efficient programs, favored with international collaboration. It also ensured attention ethical aspects submitted (1). Aside some persisting problems such as excessive length process, took 10 months, high overall success rate, over 70% after first call, nevertheless represented a substantial improvement previous practices in terms transparency, supporting web-based technology, it paid proposed research. most interesting outcome this were few rare genuine attempts synchronize coordinate within country larger “research programs.” Such clusters groups aim become competitive at level join successful consortia FP7. There is hope that they could serve examples increase impact scientific production, heavily affected during war years (1991-1995). One best “The National Biobank,” consortium now linking 20 projects, either awarded or presently under review, all four Medical Schools Croatia, teaching hospitals, public health institutes. coordinated recently founded Centre Global Health, based University Split School Medicine (2). its infancy, national Biobank will rely on 3 large resources should ensure maintain competitiveness: 1) “10 001 Dalmatians” study island isolates; 2) hospital-based DNA bank thousands cases common complex diseases; 3) cohort general population control sample. The resource an internationally already recognized genetic environmental determinants disease genetic-isolate populations Dalmatia, Croatia. This effort, aiming recruit 10 001 examinees, developed recent years, collaboration mainly scientists Scotland, but Sweden, Netherlands, Italy, Germany. period 2001-2007, received Government, FP6, UK Research Council, Royal Society, Wellcome Trust, US Institutes British Council. “flagship” post-war science had publications one leading journals field genetics, Nature Genetics (3-5) articles other high-impact genetics (6-13). project contributed characterization two indigenous Mendelian disorders (14,15). Journal devoted theme issue, 17 articles, results arising (16,17). The second resource, planned important building block Biobank, network registries patients specific diseases. project, approval ethics committee Sisters Mercy Hospital Zagreb, aims create up 20 000 chronic diseases 2011. To achieve this, participating hospitals institutes form unknown etiology without preventable risk factors, amyotrophic lateral sclerosis, multiple diabetes type 1, early-onset cancers, spectrum childhood illnesses. addition, diseases, greatest share burden population, be collected: myocardial infarction; cerebral stroke; breast, lung, colorectal cancer; 2 diabetes; depression; schizophrenia; renal stones gallstones; gout; eye Parkinson Alzheimer osteoporosis; rheumatoid arthritis; others. Finally, representative sample individuals collected many described above. “targeted sample,” correspond closely demographic characteristics population. DNA-based. sample, information lifestyle, habits, exposure risks, attitudes, medical history documented using standard validated questionnaires. The main discover illuminate nature relationships between: genomic sequence sophisticated circulating metabolites; metabolites quantitative biological traits relevance human disease; etiology. take consideration 4 levels complexity involved development diseases: genomics level; “metabolomics” (including proteomics, glycomics, lipidomics); intermediate (eg, blood pressure, forced expiratory capacity, cholesterol levels, etc.); 4) endpoint phenotype. probably easier demonstrate explore associations between “neighboring” complexity, while across likely weak relatively small effect size. At each these modifiers environmental, cultural, socio-economic, psychological influences can play role. interactions those “outside” factors studied. Figure 1 shows structure presenting contributing resources. central databank examinees Health Split, healthy genome scanning performed (using dense genome-wide scans hundreds markers), followed sequencing. measured plasma individuals, high-throughput technologies mass-spectrometry high-performance liquid chromatography. involve lipidomics measurements (“metabolomics”). Genetic variants structural then associated changes individual effects metabolite assessed. Eventually, identified testing, potentially represent markers, significant risks assessed collections diseased controls approached recruited through collaborating (such Institute Public parts Croatia) (Figure 1). Figure 1 Schematic representation contribute future. HPLC – chromatography. More 150 researchers variety backgrounds disciplines continuously seek expand their collaborations. sustainable growth lasting competitiveness. We substantially visibility productivity biomedical 21st century.