Investigating modulators of disease progression in GATA2 deficiency

A fully funded 4-year PhD position has become available in the Monteiro Lab (https://passinhas.wixsite.com/monteiro-lab) to investigate novel modulators of blood stem cell fitness that halt or reverse bone marrow failure in in vitro and in vivo models of GATA2 deficiency. GATA2 deficiency is a rare leukaemia predisposition syndrome that leads to bone marrow failure and progression to acute myeloid leukaemia in patients at a median age of 20. This project is a collaboration between the Monteiro and Higgs Lab at the Department of Cancer and Genomic Sciences, University of Birmingham, UK, with funding from the LifeArc Centre for Acceleration of Rare Disease Trials (ARDT).

Deadline: 6th April 2025

Globally, there are more than 300 million people living with rare diseases. However, clinical trials for rare diseases are challenging and can be a major limiting step in getting new treatments to patients. The research can be fragmented, and researchers sometimes lack access to specialist facilities, as well as advice on regulation, trial designs, preclinical regulatory requirements, and translational project management.

The LifeArc Centre for Acceleration of Rare Disease Trials brings together a consortium of three universities from across the UK: Newcastle University, Queen’s University Belfast, and University of Birmingham. They are pooling their expertise in a £12M Centre to focus on improving the efficiency of rare disease trials and increasing the number of opportunities for patients to take part. Researchers will develop a UK ‘4 nations’ approach to deliver trials of new treatments using ‘one stop’, patient friendly models.

This will speed up the delivery of clinical trials for people with rare diseases and enable more rapid approval of new therapies for use in the NHS.

More information on the Centre can be found here: https://www.birmingham.ac.uk/research/centres-institutes/rare-disease-studies/lifearc-centre and here: https://www.lifearc.org/project/lifearc-translational-centres-for-rare-diseases/

As part of the Centre, LifeArc and the University of Birmingham are funding 5 non-clinical PhD studentships to work on translational projects involving different rare diseases. These PhD projects will provide essential evidence and models to allow treatments to be tested in rare disease clinical trials of the future.