Pembrey, Marcus Edred (b.1943)

Reports, meeting notes, minutes, project files, grant applications, press cuttings, diaries, notebooks, photographs and correspondence accumulated by Marcus Pembrey over the course of his career. Incorporates material relating to his work at the Institute of Child Health, and with a number of bodies including Advisory Committee on Genetic Testing, Medical Research Council, House of Commons Science and Technology Select Committee, Wellcome Trust Case Control Consortium, and the International Federation of Human Genetics Societies.

Subjects covered include: gene mapping, ethics, genetic counselling, epigenetics, pre-implementation diagnosis, transgenerational genetics and imprinting, and public understanding of genetics.

Contains material on the following conditions:
Fragile X
Wilms Tumour
Turner's Syndrome
Leber's Amaurosis
Familial hypercholesterolaemia
Hirschsprengs
Haemophilia
Blood disorders
CHARGE
Cleft lip and palate
Cancer
Cystic Fibrosis
Angelman syndrome
Congenital adrenal hyperplasia
Down syndrome
Rett syndrome
Muscular dystrophy
Neuroblastoma
Osteogenesis imperfecta
Hyperphagic Short Stature

Marcus Pembrey was born into a medical family in Guildford, Surrey, in April 1943. His grandfather, Marcus Seymour Pembrey (1868-1934) was a prominent physiologist who collaborated with J. S. Haldene, and was elected a Fellow of the Royal Society in 1922.

Marcus Pembrey studied medicine at Guy's Medical School, and graduated in 1966. It was at Guy's that he became interested in genetics, a subject which was not recognised as a specialty by the Department of Health until 1980. Towards the end of his studies, he chose to sit in on Cedric Carter's genetic counselling sessions at Great Ormond Street Hospital.

In the early 1970s Pembrey worked with David Weatherall, investigating the possibility of treating sickle cell disease and beta thalassaemia by switching on fetal haemoglobin. As part of this work he travelled to Saudi Arabia and demonstrated that locals with sickle cell disease were protected by high levels of fetal haemoglobin.

At the end of 1973, Pembrey returned from Saudi Arabia and spent the next five years working at Guy's with Paul Polani. He then moved to the Institute of Child Health to head the new Mothercare Unit of Paediatric Genetics. Twenty years later, Pembrey was appointed Consultant Advisor in Genetics to the Chief Medical officer, Department of Health. A post he held until 1998. He also became Vice-Dean of the Institute of Child Health in 1990.

From 1989-2005 he was visiting professor at the University of Bristol, where he was Director of Genetics within the Avon Longitudinal Study of Parents and Children (ALSPAC), the first birth cohort study to incorporate genetics in its design from the beginning.

Marcus Pembrey was President of the European Society of Human Genetics, 1994-1995, and helped found the International Federation of Human Genetic Societies during this time. He was also the Founding Chair of the Progress Educational Trust, and chaired the Department of Health Advisory Committee on Genetic Testing in 1997. Additionally, he co-authored a number of editions of the textbook An Introduction to Medical Genetics with John Fraser Roberts.