Blizard Institute - Barts and The London

Professor Inderjeet Dokal, MBChB, MD, FRCP, FRCPCH, FRCPath, FMedSci


Chair of Child Health / Honorary Consultant in Haematology / Centre Lead

Centre: Centre for Genomics and Child Health

Telephone: 0207 882 2205


Inderjeet Dokal graduated in Medicine from the University of Leicester in 1983. He moved to Hammersmith Hospital in 1984 where he received his post graduate clinical and research training. He was appointed Consultant in Paediatric Haematology in 1995 and was conferred the title of Professor of Haematology at Imperial College in 2003. In 2006 he was recruited to the Chair of Child Health at Barts and The London School of Medicine and Dentistry, Queen Mary University of London. He is also an Honorary Consultant in Haematology (Barts Health) and Centre Lead for Genomics and Child Health.



MBBS course (Human Development Module), Intercalated BSC projects, Academic Clinical Fellows (ACFs) in Paediatrics and Haematology

SPRs in Haematology (morphology, bone marrow failure, genetic tests)

Topics for PhD/MD supervision: Genetics and pathophysiology of bone marrow failure (aplastic anaemia), myelodysplasia and related disorders.


Research Interests:

Inderjeet Dokal’s principal research interest is the pathophysiology of aplastic anaemia (AA)/bone marrow failure. In order to understand the biology of aplastic anaemia he has focused on monogenic disorders associated with AA. This has enabled him to combine his Paediatric, Haematological and Scientific expertise to address an important clinical problem. As a MRC Research Fellow he was able to delineate some of the cellular features of two of the commonest inherited bone marrow failure syndromes, Fanconi anaemia (FA) and dyskeratosis congenita (DC). Subsequently, in order to facilitate research on DC and related disorders he established an international registry in 1995 and a close collaboration with Drs. Philip Mason and Tom Vulliamy. In addition to providing a genetic resource the registry has enabled the documentation of clinical, haematological and other features of patients with bone marrow failure syndromes and a more co-ordinated clinical management.

Significant scientific advances have also been achieved including the identification and characterization of several disease genes (DKC1, TERC, TERT, NOP10, NHP2, USB1, SRP72, RTEL1, ERCC6L2, PARN) mutated in dyskeratosis congenita, aplastic anaemia, myelodysplasia, leukaemia and related disorders.

These advances have provided a link between DC/AA and defective telomerase/telomeres, new diagnostic tests and possible strategies for developing targeted therapies for these patients.

Current research is focussed on elucidating the genetic basis and pathophysiology of the many uncharacterized cases of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders.


Research Group Members


Prof Tom Vulliamy, Professor in Molecular Biology

Dr Amanda Walne, Postdoctoral Research Associate

Dr Hemanth Tummala, Postdoctoral Research Assistant

Jenna Alnajar, Research Technician

Jasmin Sidhu, Research Technician


1. Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genetics 1998, 9: 32-38.

2. Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001, 413: 432-435.

3. Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nature Genetics 2004, 36: 447-449

4. Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Constitutional mutations in RTEL1 cause severe dyskeratosis congenital, American Journal of Human Genetics 2013, 92 (3): 448-453

5. Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T, Dokal IERCC6L2 mutations link a distinct bone marrow failure syndrome to DNA repair and mitochondrial function. American Journal of Human Genetics 2014; 94: 246-256

6. Tummala H, Walne A, Collopy L, Cardoso S, De La Fuente J, Lawson S, Powell J, Cooper C, Foster A, Mohammed S, Plagnol V, Vulliamy T, Dokal, I. Poly (A)-specific ribonuclease deficiency impacts telomere biology causing dyskeratosis congenital. Journal of Clinical Investigation. 2015 Apr 20. pii: 78963. doi: 10.1172/JCI78963. (Epub ahead of print).

View all Inderjeet Dokal's Research Publications at: