Despite numerous attempts to discover genetic variants associated with elite athletic performance, injury predisposition and elite/world-class athletic status, there has been limited progress to date. The Athlome project will capture genotype and phenotype data of elite athletes, adaptation to exercise training (in both human and animal models), and muscle-related injuries from excising studies and consortiums worldwide with a view to understanding healthy body function and major chronic disease conditions.
Professor Yannis Pitsiladis is a founding member of the consortium for this project.
Visit the Athlome project website.
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.
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.