HomeSenior Lecturer in Molecular Biology |
Contact details:
| Tel: | +44 20 7882 2623 |
| Fax: | +44 20 7882 2195 |
| Email: | t.vulliamy@qmul.ac.uk |
| Address: |
Centre for Paediatrics, |
Biography
Tom Vulliamy obtained his PhD in the Zoology department at University College London under Martin Raff, defining neuronal cell surface antigens. After a post-doc at Harvard University in the Massachusetts General Hospital , searching for genetic linkage to the Huntington's Disease locus, he returned to London to join Lucio Luzzatto in the Haematology Department at the Hammersmith Hospital . There, he was involved in defining the molecular basis of G6PD deficiency and in establishing a molecular diagnostic laboratory, where he worked as a clincial scientist from 1987, becoming hpc registered and obtaining an MRCPath in 2001.
From 1996, in collaboration with Inderjeet Dokal and Philip Mason, he has held project and programme grants from Action Research and the Wellcome Trust for the study of an inherited bone marrow failure syndrome. He was appointed Honorary Lecturer (2000) and Senior Lecturer (2003) at Imperial College London, before joining the Institute of Cell and Molecular Science at QMUL as a Senior Lecturer in Molecular Biology (2006).
Research Activity
Recent efforts have focussed on understanding the pathophysiology of bone marrow failure. Our group has identified genes that are mutated in the severe multisystem disorder, dyskeratosis congenita, which is characterised by failure of tissues that undergo constant renewal, including the haemopoetic system, the gut and the skin. The three genes that have so far been identified in this heterogeneous disease code for components of the telomerase complex, which is crucially important in maintaining the ends of each chromosome in the germ line and in stem cells. We are investigating the functional consequences of mutations to these different components, searching for additional genes in uncharacterised cases and performing retroviral gene transfer for correction of the disease phenotype. The study has also lead to the identification of functional polymorphisms in the telomerase complex which may have wider implications for the health and longevity of the general population. Additional interests have included the molecular basis of glucose-6 phosphate dehydrogenase deficiency, one of the most common human genetic disorders due to the resistance it confers during malaria infection. This work has lead to an ongoing study of the genetic factors that influence disease severity in a large cohort of sickle cell disease patients being carried out as a collaborative study between London , Paris and Cotonou in West Africa .
Key Publications
• Vulliamy TJ, Knight SW, Dokal I, Mason PJ. (1997) Skewed X-inactivation in carriers of X-linked Dyskeratosis. Blood 90 , 2213-2216.
• Heiss NS*, Knight SW*, Vulliamy TJ*, Klauk SM, Wiemann S, Mason PJ, Poustka A, Dokal I (1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genetics 19 , 32-38.
* NSH, SWK and TJV contributed equally to this work.
• Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ (1999) Dyskeratosis congenita caused by a 3' deletion: germ line and somatic mosaicism in a female carrier. Blood 94 , 1254-1260.
• Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I (2001) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413 , 432-435.
• Vulliamy TJ, Marrone A, Dokal I, Mason PJ (2002) Association between aplastic anaemia and mutations in telomerase RNA. Lancet , 359 , 2168-2170.
• Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I (2004) Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nature Genetics 36 , 447-449
• Marrone A, Stevens D, Vulliamy T, Dokal I, Mason PJ. (2004) Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood , 104 , 3936-3942.
• Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I. (2005) Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Molecules and Diseases 34 :257-263.
• Vulliamy TJ, Marrone M, Knight S, Walne A, Mason PJ and Dokal I (2006) Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood . 107 , 2680-2685.
• Walne AJ, Vulliamy T, Beswick R, Marrone A, Al-Qurashi F, Aljurf M, Dokal I (2007) Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase associated protein NOP10. Human Molecular Genetics 16 , 1619-1629
