Vulliamy, Tom

Tom Vulliamy

Tom Vulliamy

Title: Dr
FRCPath
Senior Lecturer in Molecular Biology

Dr 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.

He is also involved in a pharmacogenetic study, investigating the role of a genetic polymorphism in the efficacy of a drug used to treat preschool wheeze.  Specifically, a randomised placebo controlled trial of the intermittent use montelukast is being stratified according to a genotype (ALOX5) that influences how children respond to this leukotriene antagonist.

Additional interests include 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.

Bio

 

Tom Vulliamy obtained a Zoology degree at Oxford University and a PhD working with Martin Raff at UCL. Since then has worked in human genetics, initially with Jim Gusella at Harvard Medical School and then with Lucio Luzzatto at the Hammersmith Hospital in London. He worked as a Clinical Scientist running a small molecular diagnostic laboratory while collaborating with Inderjeet Dokal and Philip Mason in the cloning of disease genes.  He was appointed Senior Lecturer at Barts and The London SMD in 2006.

 

Research

Telomere biology; bone marrow failure; identification of disease genes; sickle cell disease; glucose-6-phosphate dehydrogenase deficiency

Recent and ongoing research projects:

  • The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders.
  • Parent-determined oral montelukast therapy for preschool wheeze with stratification for arachidonate-5-lipoxygenase promoter genotype.
  • Natural History of Sickle Cell Disease in Cotonou (The Republic of Benin):
    Influence of Genetic and Environmental Factors on the Clinical Expression of the Disease

Publications

Key Publications

Walne AJ, Vulliamy T, Beswick R, Kirwan M and Dokal I (2010) Mutations in C16orf57 and normal length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome Hum. Mol. Genet 19:4453-61

Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P, Kelly R, Stewart A, Bowen D, Schonland S, Whittler AM, McVerry A, Gilleece M, Dokal I (2009) Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukaemia. Human Mutation 30, 1567-1573.

Vulliamy T, Beswick R, Kirwan M, Marrone M, Digweed M, Walne A, Dokal I  (2008) Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci USA, 105, 8073-8078.

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

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

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, 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.

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

Media:

Reuters television: comment on the public availability of telomere length measurement, July 2011.

The Independent: ‘Dr Tom Vulliamy: I was assessed and the news was not good – but I'll live’, May 2011.

Sky News: comment on telomere test that tells you how long you’ll live, May2011.

BBC1 television: ‘Can we live for ever’ with Liz Bonin on Bang Goes the Theory, April 2010.

BBC World News and World Service radio: comment on Noble Prize for Medicine awarded to Blackburn, Grieder and Szostak, May 2009

BBC1 television: appearance with Michael Mosely on ‘Make Me Live Forever’, March 2009
 


All publications from PubLists

 

Teaching

MBBS, FunMed, Genetics Module including workshop
Human Development (HD2)
Graduate Entry Programme

MBBS Student Mentor

Topics for PhD supervision:

Functional characterisation of mutations in dyskeratosis congenita

PhD Students:

Richard Beswick

Contact

Centre for Paediatrics
Blizard Institute
Barts and The London School of Medicine and Dentistry
Blizard Building
4 Newark Street
Whitechapel
London E1 2AT 
 

020 7882 2623
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