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.



brendan lee headshot

Program Chair
Brendan Lee, MD, PhD
 Baylor College of Medicine 

pacifici maurizio

Program Co-Chair
Maurizio Pacifici, PhD
Children’s Hospital of Philadelphia

Program Committee:

yang chai
 Yang Chai, DDS, PhD 
Michael Collins
 Michael Collins, MD 
matthew drake Matthew Drake, MD, PhD 
Mayo Clinic
deb krakow
 Deborah Krakow,  MD 
Dr. Sandesh Nagamani.jpg
 Sandesh Nagamani, MD

Baylor College of Medicine






Meeting Agenda:


Wednesday, September 26

Continental Breakfast 7:00am - 8:00am

Session 1: Diagnostic Approach to Rare Skeletal Diseases
8:00am - 9:40am

Speaker 1: Brendan Lee, MD, PhD (Baylor College of Medicine) on next generation sequencing and multi-omic approaches for diagnosing 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


9:40am - 9:55am

Session 2: Preclinical Models and Pathogenesis (Bones, Cartilage & Craniofacial)
Session 2A
9:55am - 12:00pm

Speaker 1: Michael Collins, MD (National Institute of Dental and Craniofacial Research) on Fibrous Dysplasia

Speaker 2: Aris Economides, PhD (Regeneron Pharmaceuticals) on BMP Signaling and Therapeutic Approaches

Speaker 3: Frank Rauch, MD (Shriners Hospital of Montreal) on Osteogenesis Imperfecta

Speaker 4: Yingzi Yang, PhD (Harvard School of Dental Medicine) on Progressive Heterotopic Ossification

Speaker 5: Anna Teti, PhD (University of L’Aquila) on Osteopetrosis 


Lunch & Poster Session 1 
12:00pm - 1:30pm


Session 2B
1:30pm - 3:10pm

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

Speaker 8: Peter J. Brown, PhD, (University of Toronto), on Chemical Biology and Drug Discovery


3:10pm - 3:30pm

Session 3: Therapies on the Horizon and New Disease Targets – Evening
3:30pm - 5:35pm

Speaker 1: Yang Chai, DDS, PhD (University of Southern California) on dental stem cell therapies

Speaker 2: Cecelia Gotherstrom, PhD (Karolinska Institutet) on Stem Cells for Treatment of OI and the BOOSTB4 Trial (sponsored by the ICCBH)

Speaker 3: Denise Adams, MD (Harvard) on Gorham’s Disease

Speaker 4: Timothy Bhattachyrra, MD (National Institutes of Health) on Melorheostosis 

Evening Reception/Poster Session
5:35pm - 7:30pm


Thursday, September 27

Continental Breakfast 7:00am - 8:00am

Session 4: Targeting Signaling Pathways (Clinical)
8:00am - 9:40am

Speaker 1: Sandesh Nagamani, MD (Baylor College of Medicine) on the clinical trial of anti-TGFb in OI

Speaker 2: Andreas Grauer, MD (Amgen) on the role of sclerostin inhibition in bone. 

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


9:45am - 10:00am

Session 5: Advances in Endpoints and Assessments (Preclinical & Clinical)
10:05am - 11:45am

Speaker 1: Steven Boyd, PhD (University of Calgary) on HRPqCT 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

Speaker 5: Michael Whyte, MD (Shriners Hospital, St. Louis, MO) on Hypophosphatasia: What’s Next?



Lunch and Poster Session 3
11:45am - 1:45pm

Session 6: Current Industry Clinical Trials and Approach to Pivotal Phase 3 and Post-Approval Studies
1:45pm - 3:45pm
Presentations from Regeneron, Clementia, Ultragenyx, Mereo, Alexion, and other companies. Representatives will discuss status of ongoing clinical trials in rare bone diseases



For additional information, contact

The Rare Bone Disease Alliance is a program of the Osteogenesis Imperfecta Foundation.

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