I am a clinician scientist. I studied Medicine at Manchester University and completed professional training in adult medicine in the North West of England. I started training in Clinical Genetics in 1995 and undertook a PhD as a Wellcome Trust Clinical Training Fellow on the Genetics of Osteoarthritis in the Wellcome Trust Cell Matrix Centre. I moved to Toronto to undertake a two year Arthritis Society Fellowship with Professor Kathy Siminovitch where I worked on the genetic basis of rheumatoid arthritis and inflammatory bowel disease.

I took up my post as Clinical Senior Lecturer in Genetics at the University of Manchester and Honorary Consultant at St Mary's Hospital in 2004 and was awarded my Chair in 2013. My research has focussed on pharmacogenetics - defining the genetic factors that influence how patients respond to their medications. I have an interest in the use of different technologies to define disease causing genes and have used SNP arrays and next generation sequencing approaches to identify a number of novel genes responsible for a range of conditions. I have established a Genome Clinic to use next generation sequencing to diagnose conditions that it was previously challenging to correctly define. This is now leading to studies to discover specific treatments for inherited disorders.

Collaborators and affiliated staff

Prof Graeme Black

Prof Julian Davis

Prof Gareth Evans

Prof Katherine Payne

Dr Steve Roberts

Prof Adrian Woolf

Prof Mitch Dowsett (Institute of Cancer Research, London)

Prof Thomas Friedman (NIDCD, USA)

Dr Ray O'Keefe

Dr Wyatt Yue

Memberships of committees and professional bodies

American Society of Human Genetics

European Society of Human Genetics

British Society of Genetic Medicine



Bill is Professor of Translational Genomic Medicine in The Manchester Centre for Genomic Medicine at the University of Manchester and Honorary Consultant at Central Manchester University Hospitals NHS Foundation Trust

Director of the Greater Manchester Genomic Medicine Centre for the 100,000 Genomes Project

Chair,  British Society of Genetic Medicine 2015-2017

Research Group Lead, Manchester Centre for Genomic Medicine, University of Manchester 2010-15

Executive Board Member (2012-17) & Scientific Programme Committee, European Society of Human Genetics (2013-17)

Lead for Genetics, NIHR Clinical Research Network 2010-15


BSc (hons) Experimental Immunology and Oncology

MB ChB (hons)

MA Healthcare Ethics and Law



Research interests

aUnderstanding the causes of inherited Rare Diseases

Using new technologies of microarrays and next generation sequencing, I have been working with clinical colleagues to define the genetic causes of a number of rare inherited conditions. With my colleagues, Drs Sid Banka and Simon Jones, we described a novel developmental disorder due to deficiency of an enzyme called dihydrofolate reductase (DHFR). We have an active research programme on a number of rare conditions including Perrault syndrome (deafness and ovarian failure), Leri's pleonosteosis, familial basal cell carcinoma, Burn McKeown syndrome, Filippi syndrome and Heimler syndrome. I am especially interested in expanding the use of this technology to patients where genetic testing has not been used to aid accurate diagnosis and clinical management.

b) Pharmacogenetics

I am interested in how patients respond to their medication.

I have worked on a number of studies to establish why some patients are less likely to respond to cancer treatment and some are more likely to experience severe drug reactions. I work closely with Prof Katherine Payne on the Health Economic aspects of pharmacogenetics and how tests can be introduced into clinical practice.

Recently I have been working on a study to determine why women respond differently to medication used in IVF treatment to stimulate the ovaries.

I work closely with the Genomic Diagnostic Laboratory at St Mary's Hospital to develop and provide tests e.g EGFR, KRAS, BRAF for patients with cancer to ensure that they get the right treatment. This work includes development of tests of panels of genetic variants.

c) Genetic basis of common diseases:

As a member of the UK IBD Genetic Consortium I have been studying how genetic variants increase susceptibility to common conditions like inflammatory bowel disease (IBD), especially in the South Asian populaion.

I work closely with Prof Gareth Evans in understanding how genetic variants are important in altering an individuals risks to developing breast cancer. I am working with Gareth on a large trial called PROCAS ( which is considering how genetic information can make the breast cancer screening programme more effective.

I have an interest in the genetics of megaloblastic anaemia, especially why some people have an increased risk of pernicious anaemia.

d) Genetics of Lower Urinary Tract Malformations

With Prof Adrian Woolf and colleagues we have identified that genetic changes in the genes called HPSE2 (heparanase 2) and LRIG2 result in the inherited condition called urofacial (Ochoa) syndrome. This condition is characterised by an unusual facial expression and bladder and bowel voiding problems. We are studying how these genes are important for bladder development and if it contributes to more common causes of bladder problems in children. This work has expanded to study a rare disoder called bladder exstrophy.

e) Genetics of Schwannoma/Meningioma Disease

With Gareth Evans and Dr Miriam Smith I have a program of work to understand the genetic basis of nerve tumours called schwannomas  and brain/spinal tumours called meningiomas. These are present in two inherited disorders - neurofibromatosis type 2 and schwannomatosis. 


Current Funding: Genesis UK, Kids Kidney Research, Children with Cancer, Action on Hearing Loss, Wellcome Trust, Newlife, Action Medical Research


I am the Programme Director for the Genomic Sciences Scientific Training Program (STP) for Genomic Counselling, Genomics and Molecular Pathology 2016-

With Prof Bart Loey (University  of Antwerp) I have established a European training course for health professionals in cardiac genetics 2016-

With Dr Forbes Manson I established an MRes in Genetic Medicine 2011-16. This supported the foundation of the MSc in Genomic Medicine 2015 - present

I am also on the steering committees of the MRes in Genetic Medicine and MSc in Genetic Counselling

I am advisor  to undergraduates on the MBChB programme  and teach students on this course through lectures, project options and SSC placements

I undertake teaching to postgraduate doctors as part of core medical training and to Specialist registrars in Genetic Medicine.

External Examiner for MRes Genetics University of Birmingham 2011-12

External Examiner Undergraduate Genetics University of Leeds 2009-12

External Examiner Undergraduate Genetics, University of Newcastle 2013-16


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