The Aplastic Anaemia Trust are funding a new research project, investigating genetic mutations in patients with aplastic anaemia or PNH.

By developing our understanding of these mutations and their timings in different patients, researchers believe we could develop ways to better predict a patient’s likely response to treatment, and their risk of developing blood cancer. 

15% of patients who are treated for aplastic anaemia will go on to develop haematological malignancies including myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). Currently, clinicians are limited in their ability to predict which patients this will happen to. If we can shed some light on this question, the impact for patients could be profound, enabling treatment to be tailored to the patient’s personal biology. 

Working in partnership 

This project is an exciting collaboration between teams in Cambridge, Leeds, and at the Wellcome Sanger Institute. Professor Alan Warren at Cambridge, Dr Richard Kelly and Dr Darren Newton at Leeds, and Dr Jyoti Nangalia from the Wellcome Sanger Institute applied together to The Aplastic Anaemia Trust to fund the research, which they will be conducting in partnership 

What the researchers will do 

The team will look at the blood samples of around 90 patients with AA or PNH, and perform whole genome sequencing of 180 colonies across five aplastic anaemia patients. Using innovative DNA sequencing technologies, recently developed by Dr. Nangalia, they will investigate: 

  1. The landscape of acquired mutations that allow blood stem cells to survive and expand in patients with AA/PNH 

  1. The timing of these changes over the lifetime of a patient and their rate of growth 

  1. The four patterns by which they evolve over disease and treatment courses 

Dr Carlo Dufour, an expert from Italy, reviewed the research proposal for The Aplastic Anaemia Trust. He told us he was excited about the possibilities: 

The predictive role of the outcome of somatic mutations in AA/PNH is a burning issue that, at the moment, has not been satisfactorily addressed and really need to be further explored. This project may provide a substantial contribution to answer many of the raised questions.   

Dr Carlo Dufour


Just the start 

These insights are critical to understand the biological basis for the differences between patients in terms of their clinical picture, treatment responses and the risk of progression to blood cancer.  

This initial study won’t uncover all the answers – but by funding this first step, we hope to be able to collect the initial data needed to generate funding for further research.  

In the future, we hope that a better understanding of the genetic picture of patients with AA and PNH will provide clinicians with personalised decision-making tools for individual patients with AA and PNH.  

Our community’s response 

The research proposal was reviewed by aplastic anaemia patients, who volunteered to attend a panel meeting and provide their feedback.  

All respondents felt the potential impact for patients like them was very clear, commenting that “it’s extremely important for this research to go ahead. 

With this kind of research we could deliver hopefully a more patient-centred treatment plan and maybe less aggressive treatments, and could help with maybe earlier interventions The treatment is very severe and impacts so greatly on the patients and their families. 



It is research such that this that has changed the way my aplastic anaemia was treated [from] when I was first diagnosed. I hope that this will provide further insight into the evolution of the disease, helping us predict and tailor the pace of its management. 



This proposal is clearly relevant for patients with aplastic anaemia, and its findings would potentially influence the treatment decisions for future patients. This certainly seems like a project the AAT should fund. 

Callum Tempest, Trustee and Chair of The AAT Youth Board.


You paid for it! 

The cost of funding this research is £50,641.63. Every penny of this was raised by people who have aplastic anaemia, and their friends and family. If you took part in our Super Rare campaign last year, or ran in the Great North Run, or donated, or got into the freezing sea with a Santa hat on, you made this happen 

During a cost of living crisis, it can feel harder to raise money and ask people to donate. But we are determined that progress against aplastic anaemia cannot stop. As a small organisation supporting people with such an ultra rare disease, it takes a huge amount of effort and time to raise £50,000. But we really can make a difference. I feel so proud to be able to tell our community about this research that we have all funded together. Well done, and thank you everyone.  

Ellie Dawes, Head of Fundraising & Comms, The Aplastic Anaemia Trust