基本信息
views: 0
![](https://originalfileserver.aminer.cn/sys/aminer/icon/show-trajectory.png)
Bio
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.
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.
Research Interests
Papers共 349 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
European journal of human genetics : EJHGpp.1-9, (2024)
Claire E. L. Smith,Virginie Laugel-Haushalter, Ummey Hany,Sunayna Best, Rachel L. Taylor,James A. Poulter, Saskia B. Wortmann,Rene G. Feichtinger,Johannes A. Mayr,Suhaila Al Bahlani,Georgios Nikolopoulos, Alice Rigby,
JOURNAL OF MEDICAL GENETICSno. 7 (2024): jmg-2023
Siying Lin,Anthony G Robson,Dorothy A Thompson,Karolina M Stepien,Robin Lachmann,Emma Footitt, Ola Czyz, Shwetha Chandrasekhar,Elena Schiff,Christos Iosifidis,Graeme C Black,Michel Michaelides,
Clinical genetics (2024)
Retina (Philadelphia, Pa.)no. 9 (2023): e53-e53
Cited0Views0WOSBibtex
0
0
JOURNAL OF MEDICAL GENETICSno. 12 (2023): 1245-1249
Eva Lenassi, Ana Carvalho,Anja Thormann, Liam Abrahams,Gavin Arno,Tracy Fletcher,Claire Hardcastle,Javier Lopez,Sarah E. Hunt,Patrick Short,Panagiotis Sergouniotis,Michel Michaelides,
JOURNAL OF INTERNATIONAL ADVANCED OTOLOGYno. 6 (2023): 454-460
Clinical geneticsno. 4 (2023): 418-426
Retina-the Journal of Retinal and Vitreous Diseasesno. 1 (2023): 88-93
Frontiers in cell and developmental biology (2023): 1161548
Load More
Author Statistics
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn