Professor and Honorary Consultant in Genetics and Ophthalmology, University of Manchester/Central Manchester University Hospitals NHS Foundation Trust
Strategic Director; Manchester Centre for Genomic Medicine.
Graeme is Professor of Genetics and Ophthalmology at Central Manchester University Hospitals NHS Foundation Trust. During training he undertook at DPhil with Professor Ian Craig in the Department of Biochemistry at the University of Oxford, studying the genetics of X-linked inherited ophthalmic disease. It was this period that enabled him to develop his combined subspecialty interests.
Having moved to Manchester in 1995 Graeme became a Wellcome Trust Clinician Scientist Fellow in 1997 and a Wellcome Trust Senior Research Fellow in 2002. This enabled him to focus on functional analyses of recently identified genes, defining their role in normal development as well as in the disorders studied. Graeme was the director of the NIHR Manchester Biomedical Research Centre (BRC), a specialist centre in Genetics and Developmental Medicine, from 2009-2012. Graeme lead the BRC to develop an impressive track record of translating scientific breakthroughs into clinical practice.2012-14 Graeme was the inaugural director of the Institute of Human Development, within the Faculty of Medical and Human Sciences at The University of Manchester helping to bring together research in the areas of genetic medicine, specialist senses, diabetes & endocrinology, maternal and fetal health and paediatrics.
Graeme’s major research interest is the investigation of genetic disorders associated with visual disability. His overaching aims are to improve the diagnosis, management and treatment of such conditions. This work initially focused on the characterisation of genes and proteins underlying inherited developmental disorders such as anophthalmia, cataract and retinal degenerative disorders. However most recently Graeme has overseen a scientific team that provides genetic testing for inherited opthalmic disease. This includes retinoblastoma, the commonest ocular malignancy of childhood. Furthermore, through funding provided by the Department of Health and the British Retinitis Pigmentosa Society his team has developed a national genetic testing service for inherited retinal diseases. These include several forms of retinitis pigmentosa, cone-rod dystrophy as well as a number of macular dystrophies.
Through my work as a clinician, an academic, and also as a strategic leader, I am committed to using my position for public and societal benefit. Examples include:
My clinical interest is the evaluation of individuals with rare inherited disorders causing visual disability. I have overseen the growth of this large tertiary service since 1995 and continue to contribute to and lead services that include paediatric, retinal and general genetic ophthalmic clinics. This represents one of the largest clinical services in the UK and also links closely to ophthalmic imaging and electrodiagnostic testing. I contribute to a large multidisciplinary team encompassing clinical service, molecular diagnostics and translational research.
I co-manage the ocular genetic testing service in Manchester. Since 2004 – through grants to DH, RP Fighting blindness and Fight for Sight – I have led a team (with Dr Simon Ramsden, MCGM) that has designed, validated and delivered testing for inherited retinal dystrophies (IRD). From 2012 we began delivering genomic testing via next generation sequencing (105 genes in 2012; 190 in 2014) and as such we were one of the first adopters into clinical practice of NGS, including overseeing the bioinformatics strategy. This service is internationally regarded and is delivered for patients across the world. The design of an NGS test for congenital cataract (CC) was launched in 2013 and also offers diagnostic testing for CC to the NHS and internationally. I also oversee the ocular molecular genetic testing service that offers testing for retinoblastoma, recently converting this NGS methodology.
I am committed to training of clinicians, allied health professionals and scientists. As part of my clinical role I have trained clinical geneticists (2 to MD, one to PhD), ophthalmologist (PhD level) and supervised attachments in genetic ophthalmologists for MSc students in Investigative Ophthalmic Vision Sciences and Genetic Counselling. Local and National clinical leadership for rare disease:
In developing genomic diagnostic services for inherited ophthalmic disease I have worked closely with patients and patient groups, senior genetic counsellors and visual Impairment organizations to ensure engagement and support in patient-focused Health Services research based on 2 programme grants. This has ensured that both research and clinical developments are aligned to patient need. This included working on the James Lind Alliance priority setting partnership for vision research.
Memberships of committees and professional bodies
British Society of Human Genetics
Fellow, Royal College of Ophthalmologists
Fellow, Academy of Medical Sciences