Profile
After completing my BSc in Biotechnology at Bangalore University, India in 2003, I relocated to Dundee, Scotland to pursue a Master's by research, leading to PhD studies supported by scholarship awards from The Harold Hyam Wingate Foundation and The Carnegie Trust for the Universities of Scotland (2003-2008). Following the completion of my PhD studies at The Roslin Institute, Edinburgh, I undertook several projects as a lead postdoc at the University of Edinburgh (Institute of Genetics and Molecular Medicine) and the University of Dundee (Division of Neuroscience; Ninewells Hospital) before transitioning to the Blizard Institute at Queen Mary University of London. Here, I functionally characterized several novel genes and mechanisms that go awry in human haematopoiesis and subsequently established my research group focusing on studying the pathogenetic mechanisms underlying inherited bone marrow failure syndromes and their predisposition to leukaemia’s.
Featured stories
Researchers identify new genetic cause for life-threatening bone marrow failure
Inside Chat
New disease gene discovery sheds light on cause of bone marrow failure
Q&A: How a DNA repair gene can cause bone marrow failure
Weblinks:
Twitter: @hemanth_tummala
Web of Science Researcher ID: ABC-8367-2020
Research
Research Interests:
Our primary research focus revolves around discovering and characterizing new genes and mechanisms that could contribute to the management of diseases in patients and pave the way for targeted therapy. Specifically, we delve into the realm of human bone marrow failure disorders, wherein individuals experience a deficiency in blood cell production within the bone marrow. These conditions often have a hereditary component, and our goal is to uncover the fundamental causes underlying these blood disorders, collectively referred to as inherited bone marrow failure (IBMF) syndromes. We utilize next-generation sequencing methodologies with the objective of identifying novel gene variants. We employ patient derived pluripotent stem cells to model the disease in vitro. Through the application of diverse biochemical, molecular, and genome editing techniques, we characterise the impact of these novel gene variants.
Figure 1
To date, we have successfully identified and functionally characterized several novel genes, that are known to play specific and pivotal roles in telomere maintenance, ribosome biogenesis, and transcription-associated DNA repair. Dysfunction within these pathways can disrupt stem cell homeostasis, potentially leading to the accumulation of additional mutations, which in turn may predispose individuals to cancer development. The significance of these genetic discoveries can be leveraged to enhance disease diagnosis, management, and treatment strategies. Our genetic discoveries have illuminated the prospect of novel and potentially more effective drug therapies for eg: PAPD5 inhibitors and Thymidine supplementation to overcome telomere length defects in bone marrow failure syndrome dyskeratosis congenita.
Team
Postdoc
Amanda Walne
PhD student
Tianyi Liao (Primary Apr2024-)
Collaborators
Dr Nikolas Pontikos (University College London)
Prof Vijay Sankaran (Broad Institute MIT Harvard)
Dr Pradeepa Madapura (QMUL)
Publications
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
All Publications
