Scientific Symposium Co-Chair Richard Stone, MD Discusses Progress and New Directions in Bone Marrow Failure Disease Research | Aplastic Anemia and MDS International Foundation

Scientific Symposium Co-Chair Richard Stone, MD Discusses Progress and New Directions in Bone Marrow Failure Disease Research

Why do you think this symposium that occurs every two years is so important to bone marrow failure disease research?

This symposium brings together world leaders in basic, translational, and clinical research science dedicated to bone marrow failure diseases. We can thus explore the differences and commonalties between these conditions. Via increased understanding of pathophysiology, we can start to develop specific therapeutic strategies. This meeting is important because the experts are all gathered in one place, the presenters and attendees can interact at close range, and they discuss new research that will benefit patients.

What presentations at this year’s meeting did you personally find to be the most interesting?

We learned a great deal about the different mechanisms that underlie aplastic anemia and MDS. For example, we previously thought of aplastic anemia as an autoimmune disease, which it certainly is. But there are other reasons for bone marrow failure, including problems with telomerase activity.  There can be an ‘immunopathy’, causing inhibition of normal stem cell development, or a telomeropathy caused by mutation in genes encoding for members of the telomere complex. A ribosomopathy can also produce bone marrow failure, particularly in congenital states. Moreover, congenital bone marrow failure states can also inform the pathophysiology of adults with bone marrow failure. The coming together of the congenital bone marrow problems and the adult bone marrow disease with a sometimes common g pathophysiology is an important message from this conference.

Additionally, data concerning the use of thrombopoeitin agonists such as eltromobopag in the treatment of aplastic anemia and MDS was very exciting. The work done by Dr. Neal Young and his colleagues at the NIH National Heart, Lung, and Blood Institute (NHLBI) may point to a potential new therapy for patients with bone marrow failure states.

Genetic and genomic discoveries are playing an increasingly important part in the understanding of these diseases. Were any of these reported on that have particular significance?

The genomics of MDS which have been discussed and published by labs around the world have added greatly to our understanding of the pathophysiology of MDS. In part, this research led to a very interesting report at the meeting from Dr. Benjamin Ebert about how lenalidomide might work to effect on ubiquitin ligase and the ability to modify the half-life of moiteies that might be important to the development of MDS.

What research presented at the symposium may have the greatest eventual impact on the work of community hematologists?

Developmental therapeutics in MDS and aplastic anemia that have been informed by the work being discussed at the symposium are one of these. If we can understand the precise pathophysiology of a given patient with aplastic anemia, whether on an autoimmune basis or due to a telomere problem, we can use different therapies for those different categories of patients. So the personalized medicine aspect is also germane to MDS; by knowing which genes are mutated, we might be able to personalize therapy.

Another area already relevant to the clinic is the advances in stem cell transplants. Transplant experts presented very exciting data about the use of cord blood and haplo-identical transplants in MDS – in some cases using both of these together with the haplo cells helping to get blood counts to recover faster, with the cord blood providing the long-term hematopoiesis.  

To summarize, the key areas of impact are developments in experimental therapeutics for aplastic anemia and MDS taking advantage of improved understanding of the genetic pathophysiology of these conditions and a second is improvements in alternative types of grafts, making stem cell transplant safer, more effective and available to a wider number of patients.


Richard M. Stone, MD

Lead Photo
Position / Title: 
Professor of Medicine, Harvard Medical School
Dana-Farber Cancer Institute

Dr. Stone received his MD in 1981 from Harvard Medical School, his internal medicine residency training at Brigham and Women's Hospital, and his hematology-oncology fellowship at DFCI. He has performed numerous laboratory and clinical studies on acute leukemia and related disorders, and frequently participates in grand rounds worldwide. He is currently the Director of the Adult Acute Leukemia Program at DFCI, serves on the Medical Oncology Board of the American Board of Internal Medicine, and is vice chair of the Leukemia Core Committee for the national cooperative trials group Cancer and Leukemia Group B.