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Blizard Institute - Barts and The London

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

Inderjeet

Chair of Child Health, Honorary Consultant in Haematology and Centre Lead

Centre: Genomics and Child Health

Email: i.dokal@qmul.ac.uk
Telephone: 0207 882 2205

Profile

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 Honorary Consultant in Haematology (Barts Health) and Centre Lead for Genomics and Child Health.

Teaching

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

Research

Research Interests:

Inderjeet Dokal’s principal research interest is the pathophysiology of aplastic anaemia (AA)/bone mar-row failure. In order to understand the biology of aplastic anaemia he has focused on monogenic dis-orders associated with AA. 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 dis-orders he established an international bone marrow failure registry in 1995 and a close collaboration with Philip Mason and Tom Vulliamy. In addition to providing a genetic resource the registry has ena-bled 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 characteriza-tion of several disease genes (DKC1, TERC, TERT, NOP10, NHP2, USB1, SRP72, RTEL1, ERCC6L2, PARN, DNAJC21, SP1) mutated in dyskeratosis congenita, aplastic anaemia, myelodys-plasia, leukaemia and related disorders.

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

Current research is focused on elucidating the genetic basis and pathophysiology of the many unchar-acterized cases of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders.

Publications

Key Publications

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.

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 IPoly(A)-specific ribonuclease deficiency impacts telo-mere biology causing dyskeratosis congenita. Journal of Clinical Investigation. 2015 May;125(5):2151-60. doi: 10.1172/JCI78963. Epub 2015 Apr 20.

Tummala H, Collopy LC, Walne AJ, Ellison A, Cardoso S, Aksu T, Yarali N, Aslan D, Akata RF, Teo J, Songyang Z, Pontikos N, Fitzgibbon J, Tomita K, Vulliamy T, Dokal IHomozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita like phenotypes. Blood 2018; 132(12): 1349-1353.

Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Hemanth Tummala H, Al Seraihi AFH, Alnajar J, Copley F, Armes H, Barnett M, Bloor A, Bodor C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne E, Protheroe R, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze C, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki SE, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal IThe complex genetic landscapes of familial MDS and AML reveals pathogenic germline variants. Nature Communications 2020; Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5.

Tummala H, Walne AJ, Bewicke-Copley F, Ellison A, Pontikos N, Bridger MG, Rio-Machin A, Sidhu JK, Wang J, Hasle H, Fitzgibbon J, Vulliamy T, Dokal IA frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure. Proceedings of the National Academy of Sciences (USA) 2020 Jul 21;117(29):17151-17155. doi: 10.1073/pnas.2002857117. Epub 2020 Jul 7.

All Publications

Public Engagement

Inderjeet Dokal is a Trustee of The Gary Woodward Dyskeratosis Congenita Trust and scientific advisor for DCAction.