Speaker BIO:
Early research focussed on preimplantation development of the mouse embryo and involvement in the first attempts to isolate embryonic stem cells directly from mouse blastocysts with Prof Matt Kaufman and Prof Sir Martin Evans. Developed the first transgenic mouse knockout of the HPRT gene using embryonic stem cells as a model of the human X‐linked inherited disease, Lesch‐Nyhan Syndrome. Subsequently joined Prof Lord Robert Winston at Hammersmith Hospital, London and in 1990 achieved the first pregnancies worldwide following in vitro fertilisation (IVF) and preimplantation genetic diagnosis (PGD) of inherited disease. First chairman of the European Society for Human Reproduction and Embryology (ESHRE) Special Interest Group in Reproductive Genetics and co‐founder and first chairman of the ESHRE PGD Consortium. Currently a consultant in preimplantation genetics at the Bridge Centre, London and Embryogenesis, Athens, Principal Scientist, Illumina, Cambridge, Visiting Professor in the Faculty of Biological Sciences, University of Leeds, Leeds and Honorary Professor at the School of Biosciences, University of Kent in Canterbury, UK
Overview
With improvements in blastocyst culture and the development of a minimally invasive method for laser assisted excision of small numbers of trophectoderm cells, blastocyst biopsy is being used increasingly for both preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) for aneuploidy. Nevertheless, polar body biopsy is also minimally invasive and has the advantage that female meiotic errors, a major cause of aneuploidy in later pregnancy, can be identified specifically. The various methods for detecting aneuploidy and the possible applications of polar body testing will be reviewed.
