David N. Cooper has been Professor of Human Molecular Genetics at Cardiff University since 1995. His research interests focus upon elucidating the mechanisms of mutagenesis underlying human genetic disease, but also include the study of the genotype–phenotype relationship in various inherited disorders. He has published nearly 600 papers in the field of human molecular genetics and has authored or edited a number of books including Human Gene Mutation (1993), The Molecular Genetics of Haemostasis and its Inherited Disorders (1994), Human Gene Evolution (1999), Nature Encyclopedia of the Human Genome (2003), Molecular Genetics of Lung Cancer (2005), Handbook of Human Molecular Evolution (2008), Copy Number Variation and Disease (2009) and Neurofibromatosis Type 1: Molecular & Cellular Biology (2013). He curates the Human Gene Mutation Database (http://www.hgmd.org), a comprehensive database of mutations causing human inherited disease, which is marketed internationally through a commercial partner, Qiagen. He is also European Editor of Human Genetics (https://www.springer.com/journal/439) and Editor of the Genetics & Disease section of Wiley’s Encyclopedia of Life Sciences.