Barts and The London Children's Hospital | Meet the team | Consultants
Professor Inderjeet Dokal
Job Title:
Director of Clinical Academic Unit for Paediatrics
Telephone:
020 7377 7428
Fax:
020 7882 2195
Email:
Biography:
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 Queen Mary College/Barts and The London.
The main clinical and research focus has been in the the field of aplastic anaemia (AA). In collaboration with Dr Tom Vulliamy he has developed a research programme for AA (dyskeratosis congenita, Fanconi anaemia and other types of AA) as treatment for some AA patients remains unsatisfactory. Many patients have been treated using protocols pioneered by his group. In addition to aplastic anaemia he has a clinical and research interest in other haematological disorders including haemoglobinopathies. The group's research is currently funded by the Wellcome Trust and MRC.
Research programmes:
The 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 he established an international DC registry in 1995 and a close collaboration with Dr Tom Vulliamy. In addition to providing a genetic resource the registry has enabled the documentation of clinical, haematological and other features of patients with this disease and is facilitating a more co-ordinated clinical management. Significant scientific advances have also been achieved including: (i) The identification of the gene ( DKC1 ) mutated in X-linked DC. (ii) The demonstration that the Hoyeraal-Hreidarsson syndrome (a severe disorder characterized by multiple developmental abnormalities, immunodeficiency and bone marrow failure) is also due to mutations in DKC1 . (iii) Telomerase RNA component ( TERC ) and telomerase reverse trancriptase ( TERT ) are mutated in autosomal dominant DC and a subset of patients with AA. (iv) Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC . (v) NOP10 , TERT and NHP2 are mutated in autosomal recessive DC. These advances have provided a link between DC/AA and defective telomerase, new diagnostic tests and possible strategies for developing new treatments for AA.
The main focus of current research is to establish the pathophysiology of the many uncharacterized cases of DC and AA. Studies are also being taken to explore the possibilty of correction of telomere length in-vitro as this may represent a new therapeutic approach for DC/AA patients failing conventional therapies.
The group also has a clinical and research interest in other genetic disorders associated with bone marrow failure/myelodysplasia/leukaemia including FA, Diamond-Blackfan anaemia and Shwachman-Diamond syndrome.
Special interests:
Congenital bone marrow failure / aplastic anaemia.
