Research Supervisor Connect

The DKC1 pathway in haematopoietic cells and dyskeratosis congenita


Dyskeratosis congenita (DC) is an inherited disorder that presents as a heterogenous pathology involving multiple organ dysfunction, including defective haematopoiesis, which manifest as anaemia and ultimately results in bone marrow failure. This project will investigate molecular pathways underlying haematopoietic failure and other pathologies in DC, with the view to providing the insights required for development of effective treatments. 


A/Prof Karen MacKenzie.

Research location

Westmead - Childrens Medical Research Institute


Bone marrow failure is the most common cause of death among patients with DC and there is currently no pharmacologic cure available. Further insight to the mechanisms responsible for pathologies in DC is needed to enable development of new treatments and improve outcomes for DC patients.


Mutations in the genes encoding components of the enzyme telomerase, which functions to maintain chromosomal-end structures (telomeres), are an underlying cause of DC. The DKC1 gene, encoding the telomerase component dyskerin, was the first of the telomerase-associated genes to be implicated in DC and has been a focus of investigation in our laboratory. Dyskerin is an RNA-binding protein that functions in ribosome biogenesis and mRNA processing, as well as in telomerase-mediated telomere maintenance. Studies in our laboratory have demonstrated a crucial role for dyskerin in the production of red blood cells, and shown how insufficient dyskerin impairs the function of haematopoietic stem and progenitor cells. Our investigations have identified a novel pathway that appears to be mechanistically involved in the haematopoietic impairment caused by insufficient dyskerin.

This student project will leverage our Group’s recent findings, applying the novel reagents and models developed in our laboratory, to further elucidate disease mechanisms in the haematopoietic system and other tissue types that are affected by impaired expression of DKC1. The outcomes of this project will have potential application in the development of new treatments to address the unmet clinical need of patients and families with inherited DC

Additional information

We welcome enquiries from potential PhD candidates with passion and ambition for a career in medical research.

Prospective students can find information on CMRI scholarships here:

Want to find out more?

Opportunity ID

The opportunity ID for this research opportunity is 3002

Other opportunities with A/Prof Karen MacKenzie