BSc Hons, PhD, FRCPath
MRC WIMM Health and Safety Officer
- MRC WIMM Human Tissue Authority Designated Individual
I am the Designated Individual for the Human Tissue Authority Licence held by the MRC Weatherall Institute of Molecular Medicine. This post comes with a legal responsibility to maintain compliance with the Human Tissue Act 2004. The MRC WIMM licence is a research licence and covers consent, storage and disposal. I am also the MRC WIMM Health and Safety Officer for the MRC Weatherall Institute of Molecular Medicine. This is an advisory role and covers many aspects of health and safety in the MRC WIMM.
I am a Scientific Expert for the Haemochromatosis Society and the Haemochromatosis Expert Advisor for NEQAS.
I have a broad background in Biochemistry, Molecular Biology and Genetics. I did my undergraduate degree in Biochemistry at University College London followed by a Ph.D on Foot and Mouth Disease Virus at the then Animal Virus Research Institute at Pirbright in Surrey. Following a successful postdoctoral period at Baylor College of Medicine in Houston where I cloned the phenylalanine hydroxylase gene I joined the Nuffield Department of Medicine working with Professor Sir David Weatherall. In 1989 David’s research groups moved into the then Institute of Molecular Medicine. I spent 12 years working on malaria identifying the TRAP gene that is now in vaccine trials. I changed track returning to human genetics working on haemochromatosis and the genetics of iron overload. This interest continues in collaboration with Patricia Bignell at the Oxford Regional Genetics Laboratory.
I have been working in the field of inherited iron overload for 25 years. I am particular interested in improving awareness and diagnosis of this eminently treatable genetic disease.
Language continuity despite population replacement in Remote Oceania
Posth C. et al, (2018), NATURE ECOLOGY & EVOLUTION, 2, 731 - 740
Distinct gene expression program dynamics during erythropoiesis from human induced pluripotent stem cells compared with adult and cord blood progenitors.
Merryweather-Clarke AT. et al, (2016), BMC Genomics, 17
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC. et al, (2015), Nat Genet, 47, 717 - 726
A NOVEL TMPRSS6 MUTATION IN 2 BULGARIAN SIBLINGS
Bignell P. et al, (2013), AMERICAN JOURNAL OF HEMATOLOGY, 88, E212 - E213
COMPREHENSIVE GENETIC TESTING IS REQUIRED FOR PATIENTS WITH UNEXPLAINED IRON OVERLOAD
Bignell P. et al, (2013), AMERICAN JOURNAL OF HEMATOLOGY, 88, E214 - E214