EPFL doctorate Award 2016 – Evan Williams
© 2016 Evan Williams
A Systems Approach to Identify Genetic and Environmental Regulators of Metabolism, EPFL thesis n°6486 (2015).
Thesis director: Prof. J. Auwerx
"For his remarkable contribution to the genetic analysis of complex traits in both mouse and human populations. The results represent a major advancement, which some evaluators have called a stepping stone, for precision medicine."
In 2001, the first human genome was fully sequenced. This opened up the possibility for us to identify which genetic differences predispose individuals to diseases—or their resistance. Such discoveries enable the development of drugs and treatments tailored to each individual. In theory, this concept of precision medicine remains a sound idea. However, implementing this ideal has been stymied by the innumerable differences amongst us and the difficulty of isolating the diverse genetic variants behind disease.
To address this, I have examined under what circumstances a diverse murine population exhibits common metabolic diseases (e.g. diabetes) as a consequence of natural genetic variants and differences in diet and exercise. As with humans, some individuals manage to remain metabolically fit despite being sedentary and eating fatty food, while unfortunate others eat well and exercise yet still develop diabetes. In my research, I identified natural genetic variants that lead to rare diseases, variants which predispose individuals to exercise more, and a new biomarker related to diabetes. Perhaps most importantly, my research highlighted how the convergence of new technological advances in sequencing and mass spectrometry are allowing us to discover new mechanisms by which our DNA acts to create our diverse individual traits.
