NIH Insights into Bone Marrow Failure Disease Research

Over the past several decades, the National Institutes of Health (NIH) have played an integral role in bone marrow failure disease research.  NIH continues to streamline and prioritize research funding in the this field, as well as other rare diseases, with special attention being paid to collaboration across Institutes and findings that reach across disease areas. 

Pankaj Qasba, Ph.D., Program Director of the Blood Diseases Branch, National Heart, Lung and Blood Institute (NHLBI), explained that a combination of "interest, motivation and organization" can lead to particular focus on a given disease area.  He cited the fairly recent example of Fanconi Anemia, one of the inherited anemias that leads to bone marrow failure, as a successful effort that led to important breakthroughs.  First, highly motivated parents organized an effective advocacy campaign with Congressional representatives to focus on the need for more research funding for Fanconi Anemia.  In addition, top-notch scientists applied for the research grants that resulted from this mobilization, and their basic research resulted in groundbreaking discoveries.  Some of these findings did not even directly benefit Fanconi Anemia patients, but they have contributed to the understanding of other diseases, including breast cancer, and DNA repair.

Dr. Qasba also referred to Diamond-Blackfan Amemia, also an inherited marrow failure disease, as another area where significant attention was devoted to the need for more research funding.  The resulting discoveries led to the identification of a single set of ribosomal genes, and six years later and additional 13 ribosomal genes have been identified in other disease states.    Competition among various groups of researchers to identify ribosomal genes helped to spur these discoveries and generate more funds devoted to further progress.

Informing Congressional leaders and other decision-makers who allocate research dollars about a disease area like bone marrow failure is crucial, according to Dr. Qasba.  The more they know about the disease area and individuals who are affected by it, the more familiar they become with the diseases and how research can have an impact.  

Dr. Qasba also explained that the availability of research funding drives the interest of investigators, especially new investigators.  Once these young investigators become involved with a particular disease area and have experienced some success with published articles and applications for additional grants, they are more likely to commit to the field.

"I'm optimistic that there will continue to be tremendous progress and important breakthroughs in the area of both genetic and acquired bone marrow failure disease.  We are at a critical stage with a huge cadre of very dedicated scientists," said Dr. Qasba.  He stressed the importance of persistent advocacy for rare disease research and collaboration among researchers as the keys to continued discovery.

Stephen Groft, PharmD, Director of the NIH Office of Rare Disease Research (ORDR), concurred with the emphasis on multidisciplinary, collaborative research proposals and a cross-cutting approach that involves more than one Institute.  He noted that grants are awarded on the quality of what is submitted and that "the more active the research community in a given disease area, the more likely that the number of grants funded in that area will increase.  If good advances are being made, individual Institutes can then extend that research." Of course, increased resources devoted to a disease will stimulate more research activity and strong proposals. 

A program recently launched by NIH to target new drugs for rare diseases demonstrates this emphasis on collaboration.  Therapeutics for Rare and Neglected Diseases (TRND) will combine the resources of the Office of Rare Diseases Research (ORDR), the National Human Genome Research Institute, and the NIH Chemical Genomics Center along with outside researchers and organizations. 

Dr. Groft also pointed out that scientific conferences generate the research agenda and help determine priorities for funding.  An ideal example of this is the Bone Marrow Failure Disease Scientific Symposium which AA&MDSIF will be hosting in March 2010.  This symposium is supported by conference grants from NHLBI and ORDR, with the purpose of gathering the world's experts on bone marrow failure disease to outline an agenda for future research.

NIH has recently released the Research Portfolio Online Reporting Tool provides access to reports, data, and analyses of NIH research activities, including information on NIH expenditures and the results of NIH-supported research.  The  RePORT Web site, provides access to reports, data, and analyses of NIH research activities, including information on NIH expenditures and the results of NIH-supported research. RePORTER also provides links to PubMed Central, PubMed, and the US Patent & Trademark Office Patent Full Text and Image Database for more information on research results.  New features will be added to RePORTER in several releases throughout fiscal year 2010.