Genetics Society Medal 2020 – Prof Sir Peter Donnelly

Professor Sir Peter Donnelly FRS, FMedSci

Peter Donnelly is Professor of Statistical Science at the Wellcome Centre for Human Genetics in the University of Oxford. Peter grew up in Australia and on graduating from the University of Queensland he studied for a doctorate in Oxford as a Rhodes Scholar.  He held professorships at the Universities of London and Chicago before returning to Oxford, where he was Head of the Department of Statistics from 1996-2001, and Director of the Wellcome Centre from 2007-2017.  His research spans population and statistical genetics, the genetics of common human diseases, and meiotic recombination.

Donnelly’s early research focussed on stochastic models in population genetics, including pioneering work on coalescent methods.  Subsequent work developed sophisticated statistical methods which have been widely used to exploit growing genetic and genomic data, including STRUCTURE (inference of population structure), PHASE (inferring haplotype phase from genotype data), and, in collaboration with colleagues in Oxford, IMPUTE (use of linkage disequilibrium to impute genotypes at markers not directly typed).  His papers introducing novel analytical methods have been cited over 40,000 times and have spawned substantial research areas. Recent work has used genetic data to understand fine scale population structure and population history.

After a major role in the HapMap project, Donnelly led the ground breaking Wellcome Trust Case Control Consortium (WTCCC) whose main paper was a landmark in the field, becoming the standard for GWAS studies.  Donnelly also led the follow-on WTCCC2 study, a set of GWAS studies for 15 diseases across more than 65,000 samples, which provided critical biological insights for many of the diseases studied.  In 2011, he led the WGS500 project, which assessed the potential for whole-genome sequencing in clinical medicine.  The success of the pioneering project was an important factor in the decision to sequence the genomes of 100,000 NHS patients.

Over more than 15 years, Donnelly and his colleagues Myers and McVean in Oxford have made a series of seminal contributions to our understanding of meiotic recombination.  Following Alec Jeffreys’ discovery of recombination hotspots in humans, they developed sophisticated computational methods to infer hotspot locations from genetic variation data.  They produced genetic maps in humans at unprecedented, kilobase, scales and identified ~30,000 recombination hotspots where only ~15 were previously known.  They also identified recombination hotspots in chimpanzees and showed that in spite of 99% sequence identity between the species the hotspots were in different positions.  Next, they identified a DNA sequence motif responsible for localising crossovers in humans, the first such motif to be identified in any species. Along with two other groups internationally they identified the protein, PRDM9, responsible for positioning crossovers. Prdm9 is also the only known speciation gene in mammals.  Donnelly and Myers recently characterised the molecular mechanisms underpinning its role in hybrid infertility.

Donnelly is a Fellow of the Royal Society and of the Academy of Medical Sciences, and is an Honorary Fellow of the Institute of Actuaries.  He is a Fellow of St Anne’s College, and an Honorary Fellow of Balliol College, in Oxford.  His work has been recognised with various awards, including a Knighthood in 2019.  With colleagues, Peter founded Genomics plc, a company which uses large-scale genetic data to identify novel drug targets and understand individual risk for common human diseases.  He now splits his time between his academic role and that of CEO of the company.