The European Special Populations Research Network: quantifying and harnessing genetic variation for gene discovery (EUROSPAN)   


The EUROSPAN project investigates 5 genetically isolated populations throughout Europe that represent a unique resource for genomic research. It quantifies genetic variation in genes known to be involved in health and disease and will harness the genetic uniformity within populations and diversity between populations to identify novel variants influencing complex diseases. The project builds on the achievements of substantial existing investment in these special populations and will pool expertise across Europe in phenotyping, genotyping, statistical genetics and social and ethical aspects of genomic research. A common database of health and disease-related phenotypes is being established and cores of expertise are being established in the major project areas. This will create the largest database of phenotypic and genotypic data from genetic isolate populations and thus will improve European competitiveness in gene discovery. The project will also provide the platform for the evaluation of a novel gene discovery approach (hybrid identity profiling) that has been developed by a European SME.

Study objectives include:

  • to describe the variation in allele frequencies in genetic variants involved in health or disease states. 

  • to harmonise existing health and disease-related phenotype data and reach agreement on genotyping procedures; and to adopt standard definitions, measurement methods and common data storage formats to form a common study database.

  • to evaluate a novel European technology developed by IntegraGen (SME) for discovery of novel genetic variants

  • to undertake an extended pedigree based genome-wide linkage analysis to identify quantitative trait loci (QTL) underlying a large number of traits which underlie many of the main diseases of public health importance in Europe. “Cross population mapping” methods will be employed in fine mapping.

  • to develop new statistical methods for pedigree based linkage analysis in these special populations.

  • to define a best approach for dealing with related ethical and social issues in these populations


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