Mechanistic and Therapeutic Advances in Rare Skeletal Diseases
A meeting in affiliation with the American Society for Bone and Mineral Research (ASBMR)
SEPTEMBER 26-27, 2018
Preceding the ASBMR Annual Meeting. Montreal, Canada
A meeting jointly organized by the Rare Bone Disease Alliance (RBDA) and the Brittle Bone Disorders Consortium of the NIH Rare Diseases Clinical Research Network to bring together scientists interested in rare bone disease. The program will cover state of the art topics in diagnosis, preclinical mechanisms of disease, clinical targeting of signaling pathways, and novel clinical endpoints for assessment of efficacy.
Program Chair |
 Program Co-Chair Maurizio Pacifici, PhD Children’s Hospital of Philadelphia |
Program Committee:
 Yang Chai, DDS, PhD USC |
 Michael Collins, MD NIDCR |
 Matthew Drake, MD, PhD Mayo Clinic |
 Deborah Krakow, MD UCLA |
 Sandesh Nagamani, MD Baylor College of Medicine |
REGISTRATION ($300)
- Registration for this meeting will be available only through the ASBMR’s Annual Meeting registration opening in May 2018
- Reduced Registration ($150) for allied health professionals, students, fellows, residents, government, VA, and military attendees.
ABSTRACT SUBMISSION
- Abstract submission will also only be available through ASBMR beginning in early March
- Abstracts must be submitted by April 11, 2018
- Selected posters may be displayed at both the ASBMR and the Rare Bone Disease Alliance meeting
- Presenters may only present an oral presentation at the ASBMR meeting OR the Rare Bone Disease Alliance meeting
Information and links will be updated as it becomes available.
Preliminary Agenda:
Wednesday, September 26 and Thursday, September 27
Session 1: Diagnostic Approach to Rare Skeletal Diseases
Speaker 1– Brendan Lee, MD, PhD (Baylor College of Medicine) on next generation sequencing and multi-omic approaches for diagnosis skeletal diseases
Speaker 2– Struan Grant, PhD (Children’s Hospital of Philadelphia) on higher order chromatin structure and distal genetic interactions in the diagnosis of skeletal diseases
Speaker 3– Deborah Krakow, MD (University of California, Los Angeles) on radiographic and ultrasound imaging of skeletal diseases
Speaker 4– David Eyre, PhD (University of Washington) on past, current and future biomarkers of the skeleton
Session 2: Preclinical Models and Pathogenesis (Bones, Cartilage & Craniofacial)
Speaker 1– Michael Collins, MD (National Institute of Dental and Craniofacial Research) on Fibrous Dysplasia
Speaker 2– Frank Rauch, MD (Shriners Hospital of Montreal) on Osteogenesis Imperfecta
Speaker 3– Yingzi Yang, PhD (Harvard School of Dental Medicine) on Progressive Heterotopic Ossification
Speaker 4– Anna Teti, PhD (University of L’Aquila) on Osteopetrosis
Speaker 5– Maurizio Pacifici, PhD (Children’s Hospital of Philadelphia) on chondrodysplasias
Speaker 6– Andrew Wilkie, FRS, FMedSci, FRCP (University of Oxford) on craniosynostosis
Speaker 7– Ophir Klein, MD, PhD (University of San Francisco) on Hypo-oligodontia and tooth stem cells
Session 3: Therapies on the Horizon and New Disease Targets
Speaker 1– Yang Chai, DDS, PhD (University of Southern California) on dental stem cell therapies
Speaker 2- Denise Adams, MD (Harvard) on Gorham’s Disease
Speaker 3– Cecelia Gotherstrom, PhD (Karolina Institutet) on Stem Cells for Treatment of OI and the BOOSTB4 Trial
Speaker 4– Timothy Bhattachyrra, MD (National Institutes of Health) on Melorheostosis
Speaker 5– Peter J. Brown, Phd (University of Toronto), on Chemical Biology and Drug Discovery
Session 4: Targeting Signaling Pathways (Clinical)
Speaker 1– Sandesh Nagamani, MD (Baylor College of Medicine) on clinical trial of anti-TGFb in OI
Speaker 2– Andreas Grauer, MD (Amgen) on anti-sclerostin therapy
Speaker 3– Tom Carpenter, MD (Yale University) on FGF23 and X-linked hypophosphatemia
Speaker 4– Julie Hoover Fong, MD, PhD (Johns Hopkins) on C-naturietic peptide & achondroplasia
Session 5: Advances in Endpoints and Assessments (Preclinical & Clinical)
Speaker 1– Steven Boyd, PhD (University of Calgary) on high resolution peripheral qCT evaluation of bone
Speaker 2– Sharmila Majumdar, PhD (University of San Francisco) on MRI evaluation of cartilage
Speaker 3– Theresa Kehoe, MD and Gemma Kuijpers, PhD (FDA) on FDA approach to novel endpoints.
Speaker 4– William Horton, MD (Oregon Health Sciences University) on novel growth plate markers
Session 6: Approach to Pivotal Phase 3 and Post-Approval Studies
Presentations to include: representative from Regeneron; Donna Grogan, Clementia; and representatives from other companies including Ultragenyx, Mereo, Alexion (post-marketing issues).
For additional information, contact waldmancharlene234@gmail.com
The Rare Bone Disease Alliance is a program of the Osteogenesis Imperfecta Foundation.