Bone health is critical to overall health and quality of life;the skeletal system provides the body mobility, support and protection, and serves as a major reservoir for essential minerals. But not everyone enjoys good bone health. To date, nearly 500 unique rare bone diseases have been described, which in the aggregate affect 1 in 5,000 live births, and comprise 5% of all birth defects. Typically the disability caused by these diseases affects individuals throughout their lives. Currently, the vast majority of these disorder have no cure, yet studying rare bone diseases has helped elucidate biological pathways and reveal valuable targets for drug discovery that are benefitting patients with common bone diseases too. This grant application requests partial support for """"""""Mechanistic and Therapeutic Insights into Skeletal Biology Learned from the Study of Rare Bone Diseases,"""""""" a workshop being coordinated by the National Bone Health Alliance (NBHA) in partnership with the Rare Bone Disease Patient Network and with the support of the American Society for Bone and Mineral Research (ASBMR) and the United States Bone and Joint Initiative (USBJI).
The specific aims of the workshop are to: 1) Convene a multi-disciplinary group of experts including researchers, clinicians, and patients with rare bone diseases to advance our understanding of skeletal biology and encourage the development of novel therapies to improve outcomes for individuals with both common and rare bone diseases;2) Identify gaps in our knowledge regarding the biologic mechanisms underlying rare bone disorders and share effective research strategies in translational and therapeutic areas;3) Encourage broad participation both by holding the event the day before the ASBMR 2014 Annual Meeting and providing funding for a significant number of young investigators to attend;and 4) Disseminate the results broadly by publishing the proceedings of the program in a peer-reviewed journal. The one-day workshop will be held on September 11, 2014 in Houston, Texas, the day before the ASBMR 2014 Annual Meeting, the premier gathering of academic and clinical leaders in bone and mineral research. This pairing will encourage the greatest number of scientists, clinicians, and young investigators to participate in the workshop. The workshop will include lectures by invited speakers, and multiple opportunities to initiate collaborations and encourage future research partnerships. The planning committee has been confirmed and will ensure inclusion of women, individuals with disabilities, and participants from underrepresented groups.
There are hundreds of rare bone diseases. Elucidating their causes has and will continue to identify biologic pathways that are relevant to bone health in all humans and reveal important targets for therapies to help people with common and rare disorders. Thus, the 2014 workshop Mechanistic and Therapeutic Insights into Skeletal Biology Learned from the Study of Rare Bone Diseases is intended to foster collaboration between established scientists and young investigators, patients with rare bone diseases, clinicians and industry. Workshop conclusions and findings will be provided to a wide audience through the publication of abstracts and a proceedings summary in a peer-reviewed journal.
|Tosi, Laura L; Warman, Matthew L (2015) Mechanistic and therapeutic insights gained from studying rare skeletal diseases. Bone 76:67-75|