Visiting Scientist

Early Life Aetiology and Mechanisms of Diabetes and Related Metabolic Disorders

Current work and interests

Eugene’s current work focuses on understanding how new genetic variants arise in the human genome and undergo selection in accordance with the laws of evolution. This work involves the use of large sequencing studies such as the UK Biobank to identify rare genetic variation that influence traits and conditions associated with reproductive success such as mental health disorders, miscarriage, and male and female infertility.

Background and experience

Prior to joining the unit, Eugene was a Postdoctoral Fellow at the Wellcome Sanger Institute and completed his PhD at the University of Maryland School of Medicine. Eugene’s previous research focused on the study of transposons (or “jumping genes”) and other structural variation. As part of this work, Eugene investigated how transposons segregate in healthy humans as part of the 1000 Genomes Project and identified structural variation associated with severe neurodevelopmental disorders as part of the Deciphering Developmental Disorders study.

Publications

Selected publications

1. Gardner EJ et al. Reduction in reproductive success is linked with selective constraint on human genes. In Press, Nature (2021)
2. Gardner EJ et al. Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders. The American Journal of Human Genetics (2021)
3. Gardner EJ et al. Contribution of retrotransposition to developmental disorders. Nature Communications (2019)
4. Gardner EJ et al. The Mobile Element Locator Tool (MELT): Population-scale mobile element discovery and biology. Genome Research (2017)
5. Sudmant PH, Rausch T, Gardner EJ et al. An integrated map of structural variation in 2,504 human genomes. Nature (2015)

Full publication list on Google scholar