Portrait of Anne Ferguson-Smith and Malcolm Ferguson Smith

Portrait of Anne and Malcolm Ferguson-Smith.

Professor Anne Ferguson-Smith is a mammalian developmental geneticist, elected a Fellow of the Royal Society in 2017. Her research uses mouse genetics to explore gene regulation and function. She is known for her work on genomic imprinting – a process regulated by epigenetic mechanisms - and applying imprinting as a model system to understand epigenetic regulation more widely.

Her work has uncovered epigenetically regulated processes in development and over the life course, and identified key in vivo mechanisms involved in the maintenance of epigenetic states. She also explores communication between the environment and the genome with implications for health, disease and inheritance.

Anne trained in molecular biology at the University of Glasgow and obtained her PhD in developmental genetics from Yale University. She is the Arthur Balfour Professor of Genetics and Head of the Department of Genetics at the University of Cambridge.

Professor Malcolm Ferguson-Smith is a geneticist and pathologist, elected a Fellow of the Royal Society in 1983. He has made significant contributions to human genetics and cytogenetics range from early studies applying the sex chromatin method to the analysis and frequency of intersexual states, and to genome mapping using chromosome rearrangements. Malcolm was the first to report the now familiar phenomenon of satellite association, the 48 XXXY karyotype, the specificity of location of secondary constrictions in the human chromosome set and gene location by in situ hybridization.

His contributions to the knowledge of human meiosis have been of the highest quality and he was the first to succeed in identifying the characteristic cross configurations expected at pachytene in subjects heterozygous for a reciprocal translocation. Malcolm is also the author of provocative hypotheses on the basic genetic lesion in Turner’s syndrome (haploidization of active genes shared by the X and Y chromosomes), on the causation of XX masculinity and true hermaphroditism (by transference of a masculinising segment of Y to the X chromosome, leading to the discovery of the mammalian sex determining gene), and on the origin of spontaneous structural chromosome rearrangements from meiotic recombination between repetitive elements on non-homologous chromosomes. He has been a pioneer of methods for prenatal diagnosis of genetic disease.

Since his election in 1983 his research has concentrated on providing many early assignments to the human gene map; on the positional cloning of disease genes; on developing flow sorting of chromosomes for producing chromosome-specific multicolour chromosome paints used in medical diagnosis; on cross-species chromosome homology for the study of evolution in vertebrates; and on chromosome-specific sequencing for genomic studies. Recent research of his team has led, for example, to the resolution of the ten sex chromosomes of the platypus and the discovery of high conservation between the genomes of birds and reptiles.