ASBMR/RBDA 2024 Symposium: Exploring and Expanding Treatments and Analytical Tools in Rare Bone Diseases
Thursday, September 26, 2024
The ASBMR/RBDA 2024 Symposium will be held on Thursday, September 26, 2024, one day prior the 2024 Annual Meeting, at the Metro Toronto Convention Centre in Toronto, ON, Canada. Organized by Maurizio Pacifici, Ph.D., chair, and Edward Hsiao, M.D., Ph.D., vice chair, with oversight from Brendan Lee, M.D., Ph.D., this topical meeting will gather foremost experts and will foster the exchange and probing of data and insights to advance and boost basic, translational and clinical research in rare bone diseases.
Questions? Contact the ASBMR Business office by email at asbmr@asbmr.org or by phone at +1 (202) 367-1161.
The ASBMR 2024 Annual Meeting Itinerary Builder and Mobile App are available to all registered meeting attendees. Click the applicable buttons below to access the pre-meeting abstracts. To access either the Itinerary Builder or Mobile app, use your Reference/Confirmation ID number (a.k.a. Badge ID) and last name on your meeting registration email you received when you registered. For assistance logging in, please contact the ASBMR Business Office at asbmr@asbmr.org or +1 (202) 367-1161.
Program
7:30 am - 8:30 am
Continental Breakfast
8:30 am – 8:45 am
Opening Keynote & Welcome:
Maurizio Pacifici, Ph.D., The Children's Hospital of Philadelphia (United States)
8:45 am – 10:15 am
Session 1: Disease Processes and Potential Therapeutics
Co-Chairs: Suzanne Jan de Beur, M.D., University of Virginia (United States) and Eva Liu, M.D., Brigham and Women's Hospital (United States)
- Pathogenesis of OI type V - Ronit Marom, M.D., Ph.D., Baylor University (United States)
- Generalized arterial calcification of infancy – Carlos Ferreira, M.D., National Institutes of Health (NIH) (United States)
- Pathophysiologic mechanisms of melorheostosis - Timothy Bhattacharyya, M.D., National Institute of Arthritis and Musculoskeletal and Skin Dieseases (NIAMS) (United States)
10:15 am - 10:30 am
Break
10:30 am - 12:00 pm
Session 2: Tackling Rare Disease Pathogenesis
Co-Chairs: Kelly Wentworth, M.D., University of California, San Francisco (United States) & Michael Collins, M.D., National Institutes of Health (NIH) (United States)
- Zebrafish to uncover pathogenesis of adolescent idiopathic scoliosis - Ryan Gray, Ph.D., University of Texas, Austin (United States)
- Nonhuman primate models of rare bone diseases – Jeffrey Rogers, Ph.D., Baylor College of Medicine, Wisconsin National Primate Research Center (United States)
- Deciphering pathogenicity of gene variants using CRISPR-edited iPSCs - Nadav Ahituv, Ph.D., University of California, San Francisco (United States)
12:00 pm – 1:00 pm
Lunch and Poster Session
1:00 pm – 2:00 pm
Session 3: New Drug Discovery: AI and Large Dataset Tools
Co-Chairs: Anna Teti, Ph.D., University of L'Aquila (Italy) & Wenhan Chang, Ph.D., University of California, San Francisco (United States)
- Genetic approaches to identify new therapeutic indications for known drugs - Marina Sirota, Ph.D., University of California, San Francisco (United States)
- Large dataset analysis to drive drug discovery - Nicholas Tatonetti, Ph.D., Cedars-Sinai (United States)
2:00 pm – 3:00 pm
Session 4: Accelerating Drug Testing and Approval: Guidance from the FDA
Co-Chairs: Mona Al Mukaddam, M.D., University of Pennsylvania (United States) & Leanne Ward, M.D., University of Ottawa (Canada)
- Challenges and opportunities for accelerating rare disease drug approval - Theresa Kehoe, M.D., Food and Drug Administration (FDA) (United States)
- Surrogate endpoints to evaluate drug efficacy and safety - Jeffrey Siegel, M.D., Food and Drug Administration (FDA) (United States)
3:00 pm - 3:15 pm
Break
3:15 pm - 4:15 pm
Session 5: Short Talks Selected From Submitted Abstracts
Co-Chairs: Alison Boyce, M.D., National Institutes of Health (United States) & Jill Simmons, M.D., Vanderbilt University Medical Center (United States)
- Humanized mice expressing the R485X-PTH1R mutation of Eiken Syndrome reveal critical roles of the PTH1R C-tail in enchondral ossification and mineral ion homeostasis - Jakob Hoeppner, M.D., Massachusetts General Hospital and Harvard Medical School (United States)
- Paradoxical Effect of Frizzled2-Fc for the Treatment of Osteogenesis Imperfecta - Mary Adeyeye, MSTP - UTHealth Houston/MDACC (United States)
- Initial Results of an Open-Label Phase Ib Study to Evaluate Ilofotase Alfa in Adult Patients with Hypophosphatasia - Lothar Seefried, M.D., University Hospital at the Julius-Maximilians University (Germany)
- A Genome-Wide Association Study on Patients with Atypical Femur Fractures - Amirreza Haghighi, Harvard Medical School (United States)
4:15 pm - 5:00 pm
Session 6: Advocacy and Patient Representative
Co-Chairs: Edward Hsiao, M.D., Ph.D., University of California, San Francisco (United States) & Danielle Kerkovich, Ph.D., International Fibrodysplasia Ossificans Progressiva Association (United States)
- Representing the communities of patients and families - Tracy Hart, CEO, Osteogenesis Imperfecta Foundation (OIF) (United States)
- Living with OI in my family - Michelle Fynan, Ph.D., LMHC, Osteogenesis Imperfecta Foundation (OIF) (United States)
Concluding Remarks
Edward Hsiao, M.D., Ph.D., University of California, San Francisco (United States)
5:00 pm – 6:00 pm
Reception and Posters
This Symposium is supported by educational grant funding from Alexion, AstraZeneca Rare Disease, BioMarin Pharmaceutical Inc., BridgeBio Pharma, Inc., Inozyme Pharma, Ipsen Biopharmaceuticals Inc., Kyowa Kirin, Inc., and Ultragenyx Pharmaceutical Inc. (As of July 18, 2024).