The winner of this year’s Leena Peltonen prize, to be awarded at the ESHG annual meeting being held in Berlin, Germany, is Alexander (Sasha) Gusev, Associate Professor of Medicine at the Dana-Farber Cancer Institute and Harvard Medical School.. The prize is awarded to an outstanding young researcher in the field of human genetics, and honours the memory of Dr Leena Peltonen, a world-renowned human geneticist from Finland who died in 2010 and who contributed greatly to the identification of disease genes for human diseases.

Sasha Gusev’s postdoctoral training was at the Harvard School of Public Health and his PhD in Computational Biology and Computer science at Columbia University. His lab at Dana-Farber focuses on the genetic architecture of cancer and disease risk:  characterising the mechanisms of cancer risk and how common regulatory variation leads to cancer, understanding how germline variation shapes the tumour and cancer evolution once cancer develops, and integrating genetic variation and electronic health records data to improve clinical decision-making and treatment outcomes.

His work includes development of the widely-used Transcriptome-Wide Association Study (TWAS) approach to identify potential susceptibility genes from Genome-Wide Association Studies. More recently, his group has expanded TWAS methods to incorporate large-scale allele-specific and epigenetic measurements.

His group has led pharmacogenetic studies that identified one of the first germline variants associated with immunotherapy toxicities, and developed novel machine learning approaches for the classification of cancers of unknown primary. His broader goal is to leverage genetic variation to identify novel disease prevention opportunities and match optimal treatments for the right patients.