LLR grant for Familial MDS/AML

LLRlogoLeukaemia and Lymphoma Grant for research into Familial MDS

MDS is not considered a hereditary disease – but there is a very small percentage of cases where 2 or 3 members of the same family are affected.

This is why Leukaemia & Lymphoma Research have granted the Barts Cancer Institute £1.4 Mio pounds for research into this really important area.  This grant will help researchers get closer to understanding why this happens – and help families at risk.

MDS UK looks forward to working with Barts and LLR to support MDS families affected by this diagnosis.


FMLlogoFrom the Barts Cancer Institute website:

What are the research aims?

The programme begins in April 2015 and aims to uncover the cause(s) of familial myeloid leukaemia (FML) that include principally acute myeloid leukaemia (AML) or myelodysplastic syndrome (MDS) and to provide the necessary companion diagnostics to see improvements in diagnosis and management of these groups of patients.
Current challenges for researchers and clinicians working on FML include:

  •     It is an under-reported condition
  •     Patients themselves may be unaware of their familial predisposition
  •     The genetic basis is known in fewer than half of affected families
  •     Large variation in the age of onset, disease manifestation and transmission via otherwise healthy mutation carriers
  •     Absence of customised diagnostic techniques to meet the clinical needs of this patient group and their families.
  •     Few clear clinical guidelines
  •     Little known regarding “clinical heterogeneity” (differences in symptoms), or the nature of secondary mutations impacting on disease outcome

Professor Dokal said:

“This research award represents the most comprehensive and integrated programme to date internationally. We aim to change our understanding of this group of diseases as well as clinical management and outcomes. The research will be a collaboration, drawing on expertise across the medical school and we look forward to getting underway.”

The project’s aims include:

  • Identify and characterise new cases of leukaemia and MDS to build our understanding of this group of life threatening disorders.
  • Determine the genetic variability of the disease including what governs its progression from mild to severe.
  • Find and study novel disease-related genes, as many patients remain uncharacterised at the genetic level.
  • Improve clinical management by establishing centralised genetic testing of patients with known or suspected of having an inherited   component and the development of specific guidelines and a patient support group.

Professor Fitzgibbon and Dr Vulliamy summarised:

“Studying larger series of familial cases will provide an unique insight into these diseases compared with  looking at sporadic cases alone; when every case has the same starter mutation we hope to gain an understanding of disease latency (time taken for the onset of overt disease) and offer explanations for the heterogeneity in outcome seen both within and between families”

Professor Dokal went on to say:

“Collectively these studies will enable us to determine the causes of leukaemia and familial myelodysplasia (MDS). From this we hope to develop new diagnostic genetic tests for these patients, and more accurately predict the number of patients with these disorders to facilitate better planning of health services. Together, this will significantly improve clinical outcomes for patients.”

Patient Support

Part of this project is focused on helping patients and their physicians correctly manage current and future treatments. For example, while we would often select people’s siblings as bone marrow donors if the need arises, a sibling with no symptoms could not donate for MDS, as they might also have mutations despite not experiencing the disease themselves.

As well as the medical practicalities, there is the need for personal support. The internet has provided useful spaces for patients with rare diseases to share their experience and discuss challenges in understanding and helpful environments – together with patients, our researchers will help set up such groups.


Researchers awarded a £1.4million from the charity Leukaemia and Lymphoma Research

12 January 2015

A team of researchers from the Blizard Institute (Professor Inderjeet Dokal and Dr Tom Vulliamy) and Barts Cancer Institute (Professor Jude Fitzgibbon) have been awarded a Specialist Programme Grant of £1.4million from the charity Leukaemia & Lymphoma Research. This award constitutes a five-year programme entitled ‘The biology and management of familial myelodysplasia and leukaemia’ and will begin in April 2015.

The team aims to identify and characterise new cases of familial myelodysplasia (MDS) and leukaemia, determine the genetic variability of the disease including progression from mild to severe disease, and improve clinical management by developing specific clinical guidelines and establishing a patient support group.

This research award represents the most comprehensive and integrated programme to date internationally, as it aims to provide a step change in the basic understanding of this group of diseases as well as in clinical management and outcomes.

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