Steering Committee

Professor Yannis Pitsiladis has an established history of research into the importance of lifestyle and genetics for human health and performance. Following 15 years at the University of Glasgow, Scotland where he created the largest known DNA biobank from world-class athletes, he was appointed (in 2013) Professor of Sport and Exercise Science and Director of the FIMS Reference Collaborating Centre of Sports Medicine for Anti-Doping Research at the University of Brighton. His current research priority is the application of “OMICS” (i.e. genomics, transcriptomics, metabolomics and proteomics) to the detection of drugs in sport with particular reference to recombinant human erythropoietin (rHuEpo) and growth hormone (rHuGH).  His most recent research is funded by the World Anti-Doping Agency (WADA), he is currently a member of the International Olympic Committee (IOC) Medical and Scientific Commission, a member of the Executive Committee and Chair of the Scientific Commission of the International Sports Medicine Federation (FIMS), and has sat on two WADA committees. He is a Fellow of the American College of Sports Medicine (ACSM) and an expert committee pool member of the Biotechnology and Biological Sciences Research Council (BBSRC). He is an adjunct Professor of Medical Physiology at Addis Ababa University (Addis Ababa, Ethiopia). He has published over 120 peer-reviewed papers, written and edited a number of books and has featured in numerous research documentaries (e.g. BBC, NHK Japan, CNBC) and popular books (e.g. Bounce, The Sports Gene).

Professor Pitsiladis is the founding member of the SUB2 marathon project: the SUB2 marathon project is the first dedicated international research initiative made up of specialist multidisciplinary scientists from academia, elite athletes and strategic industry partners with the aim to promote clean marathon running i.e. high performance marathon running without doping. He is also the founding member of the Athlome Project: The main aim of the Athlome project is to characterize the genetics and biology of sport and exercise medicine, as a platform to understanding healthy body function and major chronic disease conditions (e.g., cardiovascular disease, obesity, type 2 diabetes). The Athlome project captures 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. 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 personalized medicine applications including “intelligent training” and the discovery of “omics” signatures of doping.

Nir is an Australian Research Council Early Career Fellow (2014-2016), and a Group Leader (Genes, Performance & Injury Group) at the Institute of Sport, Exercise and Active Living (ISEAL), Victoria University. Nir is also an Honorary Research Fellow at the Murdoch Childrens Research Institute, Royal Children's Hospital, and an Academic Editor in PLOS ONE Journal. He earned his PhD degree with distinction, in 2010, from Porto University, Portugal. In September 2011 he was appointed as a Research Fellow under the supervision of Professor David Bishop, at the Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Australia. In June 2012 Nir was appointed as a lecturer, and in June 2014 he was appointed as a Senior Lecture at ISEAL. His main area of research is Genetics and molecular performance in health and disease, and is co-Principal Investigator (with Prof Bishop) in the Gene SMART study. Since 2008, Nir has published more than 50 peer-reviewed scientific papers in Applied Physiology, Sport Science and Clinical journals, and 3 book chapters. He has 12 delivered key-note presentations in international conferences regarding the influence of genetic and molecular factors on athletic performance. Nir has been a leader of or contributor to external grant funding schemes  (including category 1) with a total funding allocation of more than $AUD 1.2 million.

Claude Bouchard is Professor and Director of the Human Genomics Laboratory at Pennington Biomedical Research Center in Baton Rouge, Louisiana. He holds the John W. Barton Sr. Endowed Chair in Genetics and Nutrition. His research deals with the genetics of adaptation to exercise and nutritional challenges, as well as the genetics of obesity and its comorbidities. He has authored or coauthored more than 1100 scientific papers and has written or edited 35 books. He is a foreign member of the Royal Academy of Medicine of Belgium since 1996. In 1994, he became an Officer of the Order of Leopold II of Belgium, in 2001, a member of the Order of Canada, and in 2005, a Chevalier in the Ordre National du Quebec. Dr. Bouchard received Honoris Causa Doctorates from the Katholieke Universiteit Leuven in 1998, from the University of South Carolina in 2009, from the University of Guelph and from Brock University in 2011, from the University of Ottawa in 2012, and from the University of Athens (Greece) and Laval University in 2015. Early in his career, he was on the Kinesiology Faculty at Laval University, Quebec City, and he was made a Professor Emeritus, Faculty of Medicine, upon his retirement. He is a Fellow of the American College of Sports Medicine, the American Society of Nutrition, the American Heart Association, the Obesity Society, and the American Association for the Advancement of Science.

Professor Kathryn North AM is Director of the Murdoch Children’s Research Institute and the David Danks Professor of Child Health Research at the University of Melbourne.

Professor North is a translational research scientist; her laboratory research interests focus on the molecular basis of inherited muscle disorders and as well as genes which influence normal skeletal muscle function and elite athletic performance. She has been involved in research into the role of α-actinin-3 in skeletal muscle since 1996; her team was the first to identify the high frequency of α-actinin-3 deficiency in the general population (North et al. Nature Genetics 1999). Her discovery of the association between ACTN3 genotype and athletic performance (Yang et al. Am J Hum Genet 2003) was named by Discovery Magazine in the “Top 100 Science Stories of 2003,” has been cited over 500 times, and has led to a further 78 ACTN3 association studies published internationally, over 52 in the last five years.  ACTN3 is widely recognised as the best characterised and validated gene identified to date that influences human muscle performance. Professors North’s laboratory has extensively studied the molecular mechanisms underlying the effects of α-actinin-3 deficiency on human health and disease, using cell-based and animal models of disease.

Professor North has received a number of awards for her research including the GSK Australia Award for Research Excellence (2011), the Ramaciotti Medal  for Excellence in Biomedical Research (2012) and the Member of the Order of Australia (AM) for service to medicine in the field of neuromuscular and neurogenetics research (2012). In 2012, Professor North was appointed Chair of the National Health and Medical Research Council Research Committee and in 2014 was appointed as a Foundation fellow of the Australian Academy of Health and Medical Science and CoChair of the Global Alliance for Genomics and Health

Dr. Alun Williams has research interests that originated in muscle physiology and quickly spread to genetics as a basis for inter-individual variability in function. He has a PhD from the University of Birmingham and works at Manchester Metropolitan University (England) where he heads the MMU Sports Genomics Laboratory. Alun is also Honorary Senior Research Associate at University College London. He has published expert position statements about the ethics and practicality of applying genetic technologies in sport including in 2016, with 23 collaborators, a statement that no child should undergo genetic testing in the context of sport or exercise because of severe limitations to currently available tests. The UK-based multi-sport athlete cohort GENESIS Alun has established with several collaborators produced its first publication in 2016 focussing on rugby (RugbyGene study), which provides a unique model for study because of substantial differences in player demands and characteristics within a single sporting population and environment. He is also a member of the steering committee of the Athlome project to which GENESIS and RugbyGene contribute. The main aim of the Athlome project is to characterize the genetics and biology of sport and exercise medicine, as a platform to understanding healthy body function and major chronic disease conditions (e.g., cardiovascular disease, obesity, type 2 diabetes). The Athlome project captures genotype and phenotype data of elite athletes, adaptation to exercise training (in both human and animal models), and muscle-related injuries from existing studies and consortia worldwide.

Malcolm Collins is currently a Professor and head of the Department of Human Biology at the University of Cape Town (UCT). After completing graduate and post-doctoral work in extracellular matrix protein gene expression, he joined UCT’s and the South African Medical Research Council’s Research Unit for Exercise Science and Sports Medicine in Cape Town. Prof Collins’ doctoral and post-doctoral work in extracellular matrix biology, in particular collagen, gene expression, stimulated his current research focus on elucidating the molecular mechanisms causing common exercise-associated musculoskeletal soft tissue (tendons, ligaments and skeletal muscle) injuries. He has developed a very productive research team at UCT, which has published a number of seminal papers on the identification of genetic risk associated factors for common tendon and ligament injuries. This UCT-based research group is currently internationally recognized as the pioneers and authority in this area of research. As a result he has developed an international and national, interdisciplinary network of research collaborators, consisting of clinicians and scientists. He has supervised or is currently supervising, several post-doctoral fellows and nearly 40 masters and doctoral students. He has also published more than 120 peer-reviewed papers, review articles and book chapters. He is a Fellow of the European College of Sport Science and is a member of the editorial teams of several international scientific journals, including the British Journal of Sports Medicine. The recently established Genomics Of INjuries (GOINg) consortium aims to identify DNA sequence variants that modify the risk of anterior cruciate ligament (ACL) injuries. It is the only consortium within the ATHLOME Project to specifically investigate exercise-associated musculoskeletal injuries.  Initially the plan is to screen the current known loci for ACL injury susceptibility in larger data sets in an attempt to identify if these loci remain susceptibility loci across all populations using the hypothesis driven candidate gene case control study design. Care will be taken to use the same criteria to accurately phenotype, with respect to ancestry, sporting and occupational details, injury profile and mechanism of injury, other injury history and family history, as well as, other appropriate medical history and medication use. The initial phase will be followed by the ACL sequencing project and eventfully expand the research objectives to include other omics. Thus far, ACL rupture consortium contains DNA samples and clinical, as well as physical and occupational activity information from South African, Polish, Australian, Russian and Italian cohorts.

Dr Colin Moran is a Senior Lecturer in Health and Exercise Sciences at the University of Stirling, Scotland. His applies his background in genetics where he works in a cross-disciplinary setting within the School of Sport. Colin’s research focus involves answering the question, "Why are we not all the same?" Primarily, he applies this question to exercise capacity, response to exercise and risk of metabolic ill health. He investigates genetic and epigenetic (non-coding RNA and DNA methylation) components of these phenotypes. As one of the principal investigators on the Genetics of Lithuanian Athletes from Kaunas (GeLAK) cohort, Colin is interested in how genetic variation can help explain scores on quantitative physiological assessments in athletes. He also has interests in understanding the efficacy of physical activity interventions, such as the widely reported Daily Mile, in school children.

Steven L. Britton is a Professor of both Anesthesiology and Molecular & Integrative Physiology at the University of Michigan.  He and Lauren Gerard Koch have been collaborating long-term to develop rat models to understand the strong linkage between low exercise capacity and low health status. By connecting clinical observation with a theoretical base, they developed the working hypothesis that: variation in capacity for energy transfer is the central mechanistic determinant between disease and health (energy transfer hypothesis). As a test of this hypothesis they found that two-way artificial selective breeding of rats for low and high intrinsic endurance exercise capacity also produced rats that differed for numerous disease risks, including the metabolic syndrome, premature aging, and Alzheimer’s disease.  That is, disease segregated with selection for low capacity. Exercise capacity is a result of intrinsic capacity plus adaptation to all aspects of physical activity.  To capture the biology of the adaptational component of exercise, rats were also selectively bred for low and high response to eight weeks of treadmill running exercise. These models are maintained at the University of Michigan as an international collaborative resource.

Dr Noriyuki Fuku is an Associate Professor at the Graduate School of Health and Sports Science, Juntendo University in Japan. His research focuses on the genetics of physical performance and their related-phenotypes such as muscle mass, muscle strength, muscle fibre type, maximum oxygen consumption, and so on, as well as on the genetics of adaptation to physical training and of injury prevention. He has published over 100 papers, i.e., >50 peer-reviewed English papers and >50 Japanese papers. He is an adjunct researcher of National Institute of Health and Nutrition (Tokyo, Japan) and Waseda University (Saitama, Japan).

De Geus is a co-director of The Netherlands Twin Register at VU University Amsterdam (NTR) where he holds a full professorship at the department of Biological Psychology. The NTR is a population-based cohort recruiting both newborn and adult multiples and their family members. In the past 25+ years, around 40% of all twins and multiples in the Netherlands have taken part in the NTR research projects. Family members and spouses of twins also took part, leading to a total of over 185,000 participants across multiple research projects. The longitudinal information that has been collected extends from genotype to biomarkers, gene expression to rich behavioral information including biennial reports on (competitive) sports participation, highest performance level attained, and on injuries related to sports. More generally de Geus is an active researcher in the field of genetic epidemiology of exercise ability, exercise behavior, and cardiovascular disease risk factors.  He has published over 400 peer-reviewed papers (H-index = 60) and book chapters. In their exercise research, de Geus and colleagues aims to understand the interplay between genetic and environmental factors shaping individual differences in sports participation and performance. His group was the first to publish a genome-wide association study on exercise behaviour.

De Geus is currently also the Director of the EMGO Institute for Health and Care Research at the VU Medical Center in Amsterdam, home to 640+ public health researchers in the field of behavioral sciences, health sciences, (genetic) epidemiology and biostatistics, movement sciences, primary care, and social medicine. As the Director, he is the administrator responsible for developing and implementing the connection of scientific excellence to societal challenges through the entire chain of basic, evaluative (e.g. RCT), implementation and cost-effectiveness research – a large number of which fall within the Exercise Medicine mission of the ACSM.

Professor Emeritus of Ergophysiology at the University of Athens, formerly at McGill University and visiting Professor in several Universities. A laureate of Doctoris Honoris Causa, Aristotle University. Citation Award for “Distinguished career of outstanding scientific and scholarship contributions to Sport Science”, Charles University. Founding Dean of the Faculty of Sport Science of the University of Athens; founding Director of the National Center of Sport Research of Greece. Co-founder of the European College of Sport Science. A protagonist in various European projects for the academic advancement of Sport Science on a par with traditional sciences. Has published widely; his textbook on Ergophysiology first appeared in English in1973. Currently in its 11th Edition (2011, p.1052) it is taught in most Greek Universities.

As a young professor at McGill University he introduced the twin model, developed an international research program and conducted relevant studies in special populations in Montreal, Jyvaskyla, Bern, Liege, Tokyo, Kuala Lumbur, and the Malaysian jungle. His early paper on “Heritability of Adaptive Variation” published in 1971 in the Journal of Applied Physiology is considered a cornerstone in Sports Genetics, while a recent of note on “Plasticity of Human Motor Cortex is Genetically Determined” appeared in 2011 in the Journal of Physiology. Presently, his interests focus on the field of Epigenetics.  He has formulated along with Professor Pitsiladis the hypothesis that individual differences in elite sport performance can potentially be explained not only by the impact of DNA sequence variation on biology and behavior, but also by the effects of epigenomic signaling on gene expression. This hypothesis they envisage to test by recruiting twin elite athletes.

Born and raised in Scotland, Euan Angus Ashley graduated with 1st class Honors in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD in molecular genetics and cellular biology at the University of Oxford before moving to Stanford University where he trained in cardiology and advanced heart failure, joining the faculty in 2006. His group is focused on the application of genomics to medicine. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The paper published in the Lancet was the focus of over 300 news stories, became one of the most cited articles in clinical medicine that year, and featured in the Genome Exhibition at the Smithsonian Museum. The team extended the approach in 2011 to a family of four and now routinely apply genome sequencing to the diagnosis of patients at Stanford hospital where Dr Ashley directs the Clinical Genome Service and the Center for Inherited Cardiovascular Disease. In 2013, Dr Ashley was recognized by the White House Office of Science and Technology Policy for his contributions to Personalized Medicine. He is a recipient of the National Innovation Award from the American Heart Association and a National Institutes of Health (NIH) Director’s New Innovator Award for work focused on precision medicine for genetic heart disease. He is a member of the Institute of Medicine (IOM) of the National Academy of Sciences Roundtable on Translating Genomic-Based Research for Health. In 2014, under his leadership, the Stanford Center for Undiagnosed Diseases became part of the renowned NIH Undiagnosed Diseases Network, for which he now serves as co-chair.

At Stanford, Dr Ashley chairs the Biomedical Data Science Initiative where he directs programs in personalized medicine, population and mobile health as well as serving as scientific director for the Big Data in Biomedicine conference. An exercise physiologist by undergraduate training, he has a lifelong passion for technology. He is co-PI of MyHeartCounts, a clinical study developed with Apple as one of the launch applications for their ResearchKit platform. MyHeartCounts is one of the first studies entirely administered via mobile phone. The study recruited 30,000 individuals in two weeks in March of 2015.

Along with colleagues Russ Altman, Michael Snyder, Atul Butte and businessman John West, Dr Ashley is co-founder of Personalis, Inc, a genetic diagnostics company focused on the development of clinical grade genome scale diagnostics.

Father to three young Americans, in his ‘spare’ time, he tries to understand American sports, plays the saxophone, and conducts research on the health benefits of single malt Scotch whisky.

Alejandro Lucia MD, PhD, is a professor in Exercise Physiology and senior researcher at the European University and ‘i+12’ Research Institute (Madrid, Spain). His main research interests are exercise effects in disease conditions, the interplay between exercise, genetics and disease/health disease phenotypes, as well as human longevity.

Dr. Ildus I. Ahmetov, graduated in general medicine from the Kazan State Medical University in 2004 and received his PhD in Sports Medicine and Genetics from the St Petersburg Research Institute of Physical Culture in 2007. His main research involves sports genomics, biochemistry, exercise physiology, genetics of metabolic disorders and genetics of intelligence. He worked for several years in the top research centres of sport science in Russia, collected DNA samples of more than 7000 professional athletes and published over 120 peer-refereed research papers in Russian and International Journals, 1 monograph (Molecular Sports Genetics) and 5 book chapters. Currently, Dr. Ahmetov is the Director of the Sport Technology Research Center of the Volga Region State Academy of Physical Culture, Sport and Tourism (Kazan, Russia) and Associate Editor of the Biology of Sport.

Dr Alsayrafi is the General Manager for Anti-Doping Lab Qatar (ADLQ).  The ADLQ is the first of its kind in the state of Qatar and West Asian Countries. The decision to establish ADLQ was made in December 2007 to support international sporting competitions including the 2014 FINA world swimming championships and the upcoming 2019 IAAF World Championships and 2022 FIFA World Cup. Dr. Alsayrafi was appointed as Project Executive Director Since February 2008, and the WADA accredited Barcelona laboratory was chosen as the chaperone laboratory to support ADLQ achieve it’s goals. The ADLQ is now compliant with ISO/IEC17025, has achieved its full WADA accreditation including tests of Blood Components and Athletes Biological Passport (ABP).

Dr Alsayrafi began his education at Qatar University with a Chemistry/Zoology degree in 1982 followed by a Master’s degree in clinical chemistry from West Chester University, Pennsylvania. He then completed his PhD in biochemistry from King’s College London. He gained experience as a laboratory technician in the clinical laboratories at Hamad Medical Corporation in Qatar before later becoming the Acting Laboratory Manager at the same hospital in 2004. From 2008 - 2011 he was the Project Executive Director for Anti-Doping Lab Qatar before becoming the General manager in 2011. Dr Alsayrafi has an extensive service career and has performed a vast number of volunteer positions. He was a founding member of the Friends of the Environment Centre (FEC) in Qatar, (member of the board since 1994), the Vice Chairman and in-Charge of Environmental Health in the Centre. He has represented the FEC and West Asia Civil Societies at UNEP major groups and civil society activities since November 2004 and is the Civil Society Coordinator  for Arab Forum for Environment and Development (AFED). From 2006 - 2015 he was a member of the Board of Trustees and secretary for Omar Bin Al Khattab Education Complex. Since 2007, Dr Alsayrafi has been the Vice chairman for the Qatar Sport and Environment Committee.

Dr Alsayrafi currently maintains strong research capacities with his team to uphold the strategic aims of ADLQ, in particular the endeavour to eliminate drug use in all sports and uphold the Olympic ideals of fair play and sportsmanship. The Lab is equipped with cutting-edge technology with some of the most advanced equipment in the field.  This includes a Performance laboratory for physiological, neurological, vascular and pharmacokinetic research on human participants in addition to Clean labs. The research aims to support sport being fairer, safer and healthier for all stakeholders, foremost among them athletes.

Dr. Masashi Tanaka is the Director of Clinical Laboratory at the Tokyo Metropolitan Geriatric Hospital. His group is primarily involved in researching the genetic and molecular basis of mitochondrial diseases. His research contributions include analyzing mitochondrial DNA mutations, proposing sodium pyruvate treatment for mitochondrial diseases, developing a novel biomarker GDF15 for diagnosis of mitochondrial disorders, and surveying new compounds that can activate mitochondrial biogenesis and ameliorate metabolomic alterations caused by mitochondrial DNA mutations. He is also interested in the genetic contribution of longevity and age-related disorders, such as sarcopenia, Parkinson disease, and Alzheimer disease. His current Athlome study involves both whole exome association study and whole genome sequencing of elite athletes by next generation sequencers.

Dr. Tanaka received his MD from Nagoya University School of Medicine in 1978 and his PhD in Biochemistry from the Graduate School of Nagoya University in 1982. He served as the Assistant Professor of Biomedical Chemistry from 1982 and as the Associate Professor of Biomedical Chemistry from 1991 in Nagoya University School of Medicine. In 1998, he was appointed as the Research Director of Gifu International Institute of Biotechnology. He served as the Research Director of Department of Genomics for Longevity and Health at the Tokyo Metropolitan Institute of Gerontology from 2005 to 2013, and he is currently the Director of Department of Clinical Laboratory at the Tokyo Metropolitan Geriatric Hospital.