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Blizard Institute - Faculty of Medicine and Dentistry

Dr Hemanth Tummala, PhD


Lecturer in Genetics and Molecular Biology

Centre: Genomics and Child Health

Telephone: 020 7882 2458
Twitter: @hemanth_tummala


After graduating with BSc Biotechnology (Bangalore University, India) in 2003, I moved to Dundee Scotland for pursuing MRes and PhD training by securing scholarship awards from The Harold Hyam Wingate Foundation and The Carnegie Trust for the Universities of Scotland (2003-2008). Following few postdoctoral stints between University of Edinburgh (Institute of Genetics and molecular medicine) and University of Dundee (Ninewells Hospital), I moved to Blizard Institute Queen Mary University of London in 2013 to work with Professor’s Inderjeet Dokal and Tom Vulliamy. In here I functionally characterised several novel genes and pathways that went awry in human haematopoiesis. In doing so, I subsequently established my current research program to investigate the genetic, molecular and cellular basis of inherited bone marrow failure syndromes and their emerging links to cancer.

Twitter: @hemanth_tummala
Web of Science Researcher ID: ABC-8367-2020


Research Interests:

The major focus of our research is discovery and characterisation of novel genes and mechanisms, that can aid in patient’s disease management and inform new druggable pathways for targeted therapy. We work on human disease bone marrow failure, an extreme disorder where the affected individual’s bone marrow lacks sufficient amount of blood cells. Often these conditions are inherited and we aim to identify the underlying pathogenetic basis of these blood disorders termed as inherited bone marrow failure (IBMF) syndromes.

Recognised IBMF syndromes include Fanconi anaemia, Schwachman-Diamond syndrome, Diamond Blackfan Anaemia and dyskeratosis congenita (DC). Other syndromes include severe congenital neutropenia, congenital amegakaryocytic thrombocytopenia, and congenital dyserythropoietic anaemia. Affected individuals bone marrow compromises in production of one or more blood cell lineages. Furthermore, some paediatric cases initially labelled as “idiopathic aplastic anaemia” or “myelodysplasia” represent cryptic presentations of these syndromes. A range of other somatic features such as cardiac to gastrointestinal defects, dysregulated development and premature aging occur in these patients and they often succumb to cancers such as, myelodysplasia (MDS) and acute myeloid leukaemia (AML).

The spectrum of age related clinical features that initially arise in BMF syndromes
The spectrum of age related clinical features that initially arise in BMF syndromes

Using next generation sequencing approaches our programme aims at identification and characterisation of novel gene variants, using patient cells (lymphoblastoid, fibroblasts and stem cells) and model organisms (yeast and zebrafish). We apply various biochemical, molecular and genome editing techniques to demonstrate the effect of these gene variants in these model systems.

Gene discovery program
Gene discovery program

Up until now we have identified and functionally characterised several novel genes (see publications) that have shown to be involved in regulating important biological functions such as telomere maintenance, cytoplasmic maturation of ribosome component 60S subunit, gene transcription and transcription associated DNA repair.

The genetic subcellular and molecular landscape of bone marrow failure
The genetic subcellular and molecular landscape of bone marrow failure


Functional deficit in these aforementioned pathways affect stem cell homeostasis and can lead to acquisition of further mutations, that may give rise to cancers. The relevance of such signature mutations can be harnessed for improved disease diagnosis management and therapy. These genetic findings have suggested the possibility of new and potentially more efficacious drug therapies such as inhibitors of TGF-b pathway in Fanconi anaemia and PAPD5 inhibitor in dyskeratosis congenita.


Key Publications

1. Tummala H, Walne A, Dokal I. (invited review) The biology and management of dyskeratosis congenita and related disorder of telomeres. Expert review of Hematology. IERR 2022.

2. Tummala H*, Walne AJ, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell, Wislon M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, and Dokal I. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita. Am J Hum Genet. 2022.

3. Dokal I, Tummala H and Vulliamy T. (invited review). Inherited bone marrow failure in a paediatric patient. Blood. 2022

*’ indicates senior corresponding author

View all Hemanth Tummala's Research Publications at:

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