Myelodysplastic Syndromes (MDS) are a form of bone marrow cancer whereby the bone marrow gradually fails to produce mature healthy cells. In some patients, MDS can progress to Acute Myeloid Leukaemia (AML), whereby the abnormal cells grow very rapidly, building up in the bone marrow and blood.

The grant has been awarded to Professor Ken Mills, Dr Kienan Savage and Dr Katrina Lappin, a leading cancer research team from The Patrick G Johnson Centre for Cancer Researchat Queen’s University Belfast. It will build on recent discoveries by Queen’s researchers that cancerous cells from a large proportion of patients with MDS, particularly those that progress to AML, have a DNA repair defect.

The researchers have identified the most common genetic mutations that drive this DNA repair defect, revealing a significant number of mutations that control how DNA is structured and the way that genes are “stitched” together to form the final blueprint for making a protein (a process known as RNA splicing). 

Professor Ken Mills explains: “To date our research has examined the molecular consequences of mutations in RNA splicing and DNA structure genes, both of which can have an impact on the way that DNA is repaired. A DNA repair deficiency can be manipulated to enhance existing or novel therapies to improve outcomes in elderly patients.”

The new research grant will further explore the role of deficiencies in DNA as a therapeutic target, particularly during disease progression.

Professor Mills added: “We are delighted to be the recipients of MDS UK’s first scientific research grant that will enable us to further investigate the impact of DNA repair in MDS particularly on disease progression from MDS to AML.

“Through this research, we will be able to identify the best treatment plans for patients, which could result in reduced disease progression and improved patient outcomes.”

CEO of MDS UK Sophie Wintrich explained: “To date, alongside crucial advocacy work, enabling access to treatment, MDS UK has provided close to 2800 MDS patients, carers and families with essential quality of life support, information and advice, via our helpline, patient meetings, newsletters, booklets and our website. It is particularly exciting for our organisation now to be able to add a research project to our core services.”

Kes Grant from MDS UK added: “As a committee member of MDS UK, as well as a patient diagnosed with MDS 20 years ago, I am really excited about this venture into research. We tend to think about research in terms of data. What we are really talking about is resetting the DNA of people and these people are partners and parents, aunties and grandparents, workers and friends. Imagine how many people could benefit from a breakthrough like this.”

The £173,000 research grant to fund a 4-year PhD studentship has been made possible thanks to legacies and donations from patients and families affected by MDS.

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