Improving care for people with inherited forms of MDS

Lead researcher - Professor Inderjeet Dokal, Queen Mary University of London
The biology and management of familial myelodysplasia and leukaemia
Amount awarded: £1,421,323
Award start date: 01 Jun 2015
Recruitment start date: 13 Jul 2017
Award duration: 5 years

Myelodysplastic syndrome and acute myeloid leukaemia are related blood cancers frequently associated with premature mortality. They usually occur as isolated cases but there are situations where two or more patients are found in the same family – “familial myelodysplasia and leukaemia”. These familial cases represent a special group of patients who require a unique management approach; they also provide an excellent opportunity for the identification of the fundamental steps that cause the disease. We have had a longstanding clinical and research interest in familial myelodysplasia and leukaemia, making significant contributions including the identification of four of the six disease genes identified to date. In addition we have provided diagnostic testing for these genes in families to facilitate appropriate clinical management. We now wish to undertake a programme of activities that we believe will lead to a big improvement in the understanding and management of this group of life threatening diseases. The programme will be delivered through four interactive projects: (i). Identification and characterisation new cases of familial myelodysplasia and leukaemia. (ii). Determining the genetic variability of the disease. (iii). Identification and characterisation of new genes as many patients remain uncharacterised. (iv). Improving clinical management and establishing a patient support group.