David Cooper

Cardiff University United Kingdom

David N. Cooper is Professor of Human Molecular Genetics at Cardiff University in the UK. His research interests are largely focused upon elucidating the mechanisms of mutagenesis underlying human genetic disease, but include genotype–phenotype relationships in various inherited conditions, as well as human evolutionary and population genetics. He has published over 350 papers in the field of human molecular genetics and curates the Human Gene Mutation Database (http://www.hgmd.org), a comprehensive database of mutations causing human inherited disease. Professor Cooper is European Editor of Human Genetics and Editor of the Genetics & Disease section of Wiley’s Encyclopedia of Life Sciences.

1books edited

Latest work with IntechOpen by David Cooper

Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.

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Mutations in Human Genetic Disease

Edited by David Cooper