Stanford Medicine

The Athlete Genome

 

The ELITE study aims to characterize the genetic determinants of human performance by studying the extreme of the distribution. Simply put, we are looking for the fittest people in the world.

We are recruiting athletes from various countries (including USA, Scandinavia, UK, Japan, Brazil and Kenya) who are successful in various endurance sports (such as running, cross country skiing, triathlon, cycling, rowing).

To date, most genetic studies have examined only a few genes (approximately 20,000 in the genome), in the athlete population and to the best of our knowledge, there has not yet been a study with a comprehensive genetic analysis of extremely well-trained endurance athletes.

Photo credit Caroline Chen/Bloomberg News

Recently on KGO TV: Stanford Genome Study Eyes Super Athletes

 

Read the recent Bloomberg article: The Secret to a Health Heart May Lie in the Genes of Elite Athletes

For further information please contact Mikael Mattsson by phone (650) 272-9208 or email mikaelm@stanford.edu. You may also contact Aleksandra Pavlovic by phone (650) 736-1147 or email apavlovi@stanford.edu.

For general information regarding questions, concerns, or complaints about research, research related injury, or the rights of research participants, please call (650) 723-5244 or toll-free 1-866-680-2906, or write to the Administrative Panel on Human Subjects in Medical Research, Administrative Panels Office, Stanford University, Stanford, CA 94305-5401

Extreme Physiology

 

The Ashley lab maintains an interest in the study of extreme cardiovascular physiology, not only in the most diseased but also in the healthiest hearts. We believe that the study of healthy hearts pushed to the limit is not only interesting in its own right but can shed light on what goes wrong, and what can be made right, when diseased hearts are asked to do the same. Together with collaborators from the Universities of Oxford, Glasgow, and Toronto, Duke University, the Veterans Affairs Palo Alto Health Care System, and the English Institute of Sport, our team studied the relationship between ACE genotype and cardiovascular responses to 300 miles (approximately 90 hours of continuous exercise) of multi-disciplinary adventure racing through the Scottish highlands in 86 athletes. Athletes homozygous for the intron-16 insertion polymorphism in ACE had significantly a greater extent of reversible sub-clinical LV dysfunction and less enhanced sympathovagal balance than individuals homozygous for the deletion; heterozygous individuals demonstrated an intermediate phenotype. This study, featured in the BBC science documentary “Tomorrow’s World”, and future work in extreme athletics may help shed light on the interplay between genetic polymorphisms and cardiac physiology, cardiomyopathy, and athletic performance.

We are also interested in the cardiovascular response to de-conditioning in elite athletes, who may have cardiac morphology that is difficult to distinguish from that of hypertrophic cardiomyopathy. We hope that this work will clarify clinical expectations for the cardiovascular response to a period of de-conditioning, which is a recommendation for distinguishing physiological from pathological hypertrophy that currently yields often confusing results. This study is a natural extension of the work on cardiovascular screening that we perform in the Stanford student athlete population, as well as a recently formed collaboration with Dr. Antonio Pellicia, medical director of the Institute of Sports Medicine of the Italian National Olympic Committee.