Jim Wilson is affiliated both to the Usher Institute and the Institute of Genetics and Cancer. Of Fair Isle heritage, he grew up in Orkney where he attended the Kirkwall Grammar School, before reading genetics at the University of Edinburgh. After a year working with Nobel prizewinner Svante Pääbo in Bavaria, Jim went up to New College in Oxford where he completed a DPhil in human population genetics with David Goldstein. Jim moved back to Edinburgh in 2003 after a stint at University College London, to take up a Royal Society University Research Fellowship. He has published over 300 peer-reviewed journal articles, over 50 of which were in the top genetics journal Nature Genetics and over 20 in Nature. His h-index is 145. Over the last two decades Jim led three large genetic epidemiology studies in Orkney, Shetland and the Western Isles; the Viking Genes cohorts. These platform resources for health research benefit from rich phenotyping, deep genotyping, a tissue biobank and prospective follow up through record linkage and have contributed to the discovery of over 1000 novel associations. He also initiated a number of international consortia to explore interests in the genetic architecture of complex traits. More recently, Jim has focussed on otherwise rare pathogenic founder variants in the islands of Scotland - there is both the need and opportunity for population-wide screening for a number of these highly drifted variants in islanders and their diaspora. Finally, Jim is heavily engaged in science communication principally through radio and TV series explaining genetics to the public (e.g. Blood of the Vikings, On the Ocean, Is it better to be mixed race?, Gatwick Baby, British More or Less, Twincredibles, Meet the Izzards, the IFTA-winning Blood of the Irish and Blood of the Travellers, a book and radio series, The Scots, A Genetic Journey) and was involved in the genetic ancestry testing business for over decade.

Research in my group spans the interface of population and disease genetics, with a focus on the genetic architecture of complex traits and the identification of genetic variants influencing quantitative risk factors for common diseases such as heart disease and diabetes. I am particularly interested in high kinship isolate populations which have increased utility for rare variant discovery, particularly in the Northern and Western Isles of Scotland.

Our primary focus at present is analysis of otherwise rare pathogenic variants which have undergone founder effects in the islands of Scotland. We are one of the first groups to return such actionable findings, including BRCA1, BRCA2 and KCNH2 variants to research volunteers and we have identified an urgent need and opportunity for population-wide screening for drifted founder variants in these populations.

Another major research interest is in homozygosity and the potential role of recessive genetic variants in determining disease risk – I steer an international consortium of >100 cohort studies and >1.4 million research participants (ROHgen) which seeks to understand the effect of inbreeding depression on complex traits. After developing the methods to measure homozygosity and describing the global distribution, we demonstrated an effect of genome-wide homozygosity on height, cognition and fertility, implying they have been subject to directional selection during human evolution. 

A final strand of activity is in population genetics, particularly focussed on the genetic history of the British Isles, where I was the first to discover genetic evidence for Norse Viking ancestry.