基本信息
浏览量:2
职业迁徙
个人简介
Professor Tom Vulliamy combines research into genetic diseases with teaching and training of students and doctors. The main focus of his research is the identification of disease genes that cause bone marrow failure. Positional cloning projects involving families with dyskeratosis congenita have shown that molecules involved in telomere maintenance are defective in this disease. Functional characterisation of these mutations describes how defective telomeres result in a premature aging phenotype in humans. The work has been translated into molecular diagnosis for at risk individuals. Next generation sequencing strategies are currently being employed in further gene discovery projects.
Patients with inherited bone marrow failure syndromes have a significantly increased risk of developing cancer, particularly acute myeloid leukaemia. This link has lead us into studying familial forms of leukaemia. This has helped define the molecular basis of this disease as well as identifying novel candidate genes.
Patients with inherited bone marrow failure syndromes have a significantly increased risk of developing cancer, particularly acute myeloid leukaemia. This link has lead us into studying familial forms of leukaemia. This has helped define the molecular basis of this disease as well as identifying novel candidate genes.
研究兴趣
论文共 128 篇作者统计合作学者相似作者
按年份排序按引用量排序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
Shruthi Mohan,Renee Geck,Shawn Fayer, Roseann Donnelly,Mary Relling,Tom Vulliamy,Kelly Caudle, Amber Waddell, Essence Kendall,Gonzalo Domingo,Angelo Minucci,Benedikt Ley,
Genetics in Medicine Open (2024): 100885
The American Journal of Human Geneticsno. 8 (2022): 1472-1483
Amanda J Walne,Tom Vulliamy,Findlay Bewicke-Copley,Jun Wang,Jenna Alnajar, Maria G Bridger, Bernard Ma,Hemanth Tummala,Inderjeet Dokal
Blood advancesno. 23 (2021): 5360-5371
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn