The most dramatic development in MDS research over the past few years has been the identification of the gene mutations that cause MDS. These mutations are not inherited, but are acquired in blood stem cells during the lifespan of a person.

Benjamin Ebert is researching these mutations. A major focus of his research is to determine how this genetic information can be used to improve the diagnosis of MDS, and to find the best therapy for each MDS patient.

Lenalidomide, for instance, is a powerful treatment for MDS patients with deletions of Chromosome 5q, a specific genetic mutation.

In the future the research could predict response to azacitidine and decitabine, only available in trials in Europe, and it might help to find out who is best suited for a transplant.

Some of these findings are only preliminary, and Ebert and his team are working to study larger groups of patients to make definitive predictions.

Not a cure but a lot of progress - all of the time, thanks to national and international researchers, and many clinical trials.

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http://www.lls.org/blog/understanding-mutations-to-treat-mds