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The project began in December 2015 and is ongoing.

The main aim of the Athlome project is to characterise the genetics and biology of sport and exercise medicine, as a platform to understanding healthy body function and major chronic disease conditions for example cardiovascular disease, obesity and type 2 diabetes.

To achieve this ambitious goal, different approaches are being used including (but not limited to) genome-wide association studies (GWAS), whole exome sequencing, RNA sequencing, genotype-phenotype association, and epigenetic analyses. Particular priority is also given to tissue-specific and systemic “omics” analysis (such as transcriptomics in the first instance) to develop personalised medicine applications including “intelligent training” and the discovery of “omics” signatures of doping.

The project will collectively study the genotype and phenotype data currently available on elite athletes, in adaptation to exercise training (in both human and animal models) and on exercise-related musculoskeletal injuries from individual studies and from consortia worldwide. To achieve this, several steps are set out:

• To establish an ethically sound international research consortium (Athlome Project Consortium) and biobank resource systematically across individual centres;
• To discover genetic variants associated with exercise performance, adaptive response to exercise-training, and skeletal-muscle injuries using the genome-wide association study (GWAS) approach, targeted sequencing or whole genome sequencing, where possible;
• To validate and replicate the genetic markers from the discovery phase across sex and ethnicity; and
• To conduct functional investigations following replicated findings (e.g., study the replicated SNPs and their linkage disequilibrium regions, in vitro expression studies and knockouts of nearby genes) to better understand the associated biology.

During the development of the initial phase of the Athlome Project in determining the genetic variations related to elite athletic performance and injury predisposition, epigenomic, transcriptomic and proteomic analyses need also be carefully planned to strengthen the understanding of genes functions. Linking these findings with metabolic profiling (the end products of the cellular processes) is also a future aspiration of the Athlome Project. Another challenge is to be able to efficiently integrate the multiple “omics” datasets generated from the different approaches.

The ultimate goal of the Athlome Project Consortium is to generate the ethically sound environment, interest and capacity needed to develop the specialist knowledge to inform personalised training and injury prevention, as well as doping detection.