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Long non-coding RNA regulator of Telomere length in short telomere syndrome dyskeratosis congenita

Code: BC-DTP_2026_21

Title: Long non-coding RNA regulator of Telomere length in short telomere syndrome dyskeratosis congenita

Primary Supervisor: Hemanth Tummala

Email: h.tummala@qmul.ac.uk

Institute: Blizard Institute

Secondary Supervisor: Lovorka Stojic

Email: l.stojic@qmul.ac.uk

Institute: Barts Cancer Institute

Lay Summary:

Dyskeratosis congenita, also called DC, is a rare inherited blood disorder where the protective ends of our chromosomes, known as telomeres, become too short too quickly. When telomeres shorten, the bone marrow cannot produce enough healthy blood cells. People with DC often develop bone marrow failure and have a higher chance of getting certain blood cancers as they grow older. Studying DC also helps us understand why telomeres shorten in the general population as people age. Although many cases of DC can be explained by known gene changes, about one third remain unexplained. Recent research suggests that long non coding RNAs, a type of genetic material that does not make proteins but helps control how genes work, may be important for keeping telomeres healthy. This project aims to find which long non coding RNAs affect telomere length and how they influence blood stem cells. By using advanced gene editing methods, stem cell models of bone marrow, and whole genome sequencing, we hope to discover new causes of DC. This knowledge may improve diagnosis and support the development of better treatments for patients in the future.

Aims/Objectives:

  1. Genome wide CRISPR perturbations to identify functional lncRNAs that regulate telomere length.
  2. Functional characterisation of lncRNAs in telomere, telomerase and HSC biology.
  3. Integrate functional patient WGS and WES variant datasets to prioritise pathogenic lncRNA variants in DC.

References:

  1. Dokal I, Tummala H, Vulliamy T. Blood. 2022 Aug 11;140(6):556-570. 
  2. Tummala H, Walne A, Dokal I. Expert Rev Hematol. 2022 Aug;15(8):685-696.
  3. Tummala H, Walne AJ, Badat M, et al. EMBO Mol Med. 2024 Oct;16(10):2560-2582. 
  4. Rio-Machin A, et al. Nat Commun. 2020 Feb 25;11(1):1044. 
  5. Tummala H, et al. Blood. 2018 Sep 20;132(12):1349-1353.
  6. Tummala H, et al. Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):7777-7782. 
  7. Tummala H, et al. Am J Hum Genet. 2016 Jul 7;99(1):115-24. 
  8. Tummala H, et al. Proc Natl Acad Sci U S A. 2020 Jul 21;117(29):17151-17155.
  9. Armes H, et al. Leukemia. 2022 May;36(5):1377-1381.
  10. Tummala H, et al. Am J Hum Genet. 2014 Feb 6;94(2):246-56. 
  11. Tummala H, et al. J Clin Invest. 2015 May;125(5):2151-60.
  12. Tummala H, et al. Am J Hum Genet. 2024 Jul 11;111(7):1494.
  13. Mattick, J.S. et al.  Nat Rev Mol Cell Biol 24, 430–447 (2023).
  14. Gala K, Khattar E. Cancer Lett. 2021 Apr 1;502:120-132. 
  15. Hu WL, et al. Nat Cell Biol. 2018 Apr;20(4):492-502.
  16. Paralkar VR, et al. Mol Cell. 2016 Apr 7;62(1):104-10.
  17. Du YX, et al. Toxicol Appl Pharmacol. 2024 Feb;483:116841. 
  18. Dai Y,et al. J Proteome Res. 2025 Sep 5;24(9):4586-4596. 
  19. Montero JJ, et al. Nat Methods. 2024 Apr;21(4):584-596.
  20. Dodel M, et al. Nat Methods. 2024 Mar;21(3):423-434.
  21. Olijnik AA, et al. Nat Protoc. 2024 Jul;19(7):2117-2146.
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