Meeting Program (Draft)
Wednesday, August 26, 2026
14:00–18:00
Registration in PGCRL
16:00–18:00
ISDS satellite meetings
Thursday, August 27, 2026
08:00–08:45
Registration and Breakfast
08:45–09:00
Welcome
09:00–10:20 Session 1 Clinical and Radiological Aspects
09:00–09:15
Epidemiology and population impact of skeletal dysplasias: a scoping review of evidence, gaps, and geographic disparities.
09:15–09:30
Clinical and epidemiological profile and nosological distribution of genetic skeletal disorders based on data from the Brazilian Rare Disease Network
09:30–09:45
Biallelic variants in FAM210A produce a form of spondyloepiphyseal dysplasia with tracheal stenosis and ectodermal dysplasia (SEDTSED)
09:45–10:00
Clinical Correlations with Neuroimaging Findings in Achondroplasia and Hypochondroplasia
10:00–10:15
Neurodevelopmental and neuroimaging features of hypochondroplasia : beyond a skeletal disorder
10:20–10:40
Coffee Break / Sponsor Visits
10:40–11:40 Session 2 Osteogenesis Imperfecta
10:40–10:55
Bone Health Index (BHI) in Children with Osteogenesis Imperfecta: an Accurate Tool for Predicting Fracture Risk
10:55–11:10
Efficacy of TXAS inhibitors to improve bone mineral density and quality in Osteogenesis imperfecta.
11:10–11:25
Anti-Sclerostin Antibody Therapy Significantly Increases Bone Mineral Density in SERPINF1-Osteogenesis Imperfecta
11:25–11:40
Surgical Outcomes and Complications of Joint Replacement in Osteogenesis Imperfecta
11:40–12:10
David Rimoin Lecture
12:15–13:30
Lunch break + Sponsor Visits
13:30–14:30
Corporate Symposium
13:30–13:45
Ascendis
13:45–14:00
BioMarin
14:00–14:15
BridgeBio
14:15–14:30
Potential 4th platinum sponsor
14:30–15:00 Session 3 Genetic Testing
14:30–14:45
Solving Undiagnosed Skeletal Dysplasias Through WGS and Functional Genomics
14:45–15:00
Uptake of genetic testing among a population of adults with skeletal dysplasias seeking orthopedic surgery
15:00–15:30
Coffee Break + Sponsor Visits
15:30–16:30
Poster session 1 Odd Numbers
Friday, August 28, 2026
08:00–09:00
Breakfast
09:00–10:20 Session 4 Industry Sponsored Clinical Trials for Treatment of Skeletal Dysplasias
09:00–09:15
Vosoritide Improves Growth in RASopathies, Aggrecan and NPR2 Deficiency: A Phase 2 Trial
09:15–09:30
Effect of long-term vosoritide treatment on growth in children with achondroplasia in open-label, multicenter clinical trials
09:30–09:45
Anti-FGF2 Aptamer Therapy in Achondroplasia: Clinical Proof of Concept from Phase 2 Study
09:45–10:00
A randomized controlled trial of oral infigratinib in children with achondroplasia
10:00–10:15
Improved Growth and Physical Functioning in Children with Achondroplasia Treated with Navepegritide in the ApproaCH Trial Open-Label Extension
10:15–10:45
Coffee Break / Sponsor Visits
10:45–12:00
Poster Session 2- Even numbers posters
12:00–13:00
ISDS Business Meeting
13:00–14:15
Lunch break
14:20–15:40 Session 5 Emerging Genetic Mechanisms, Phenotypes, and Treatments
14:20–14:35
Expanding the Genetic Spectrum: From Biallelic GDF5/BMPR1B Acromesomelic Dysplasias to a Novel case of Digenic Inheritance.
14:35–14:50
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
14:50–15:05
RNA sequencing uncovers Autosomal Recessive Cleidocranial Dysplasia due to biallelic deep intronic variants of RUNX2.
15:05–15:20
Liebenberg syndrome and homeotic lower limb transformation result from perturbation of PITX1
15:20–15:35
Experimental treatment with a Wnt-β-catenin pathway inhibitor in a patient with SOST-related craniodiaphyseal dysplasia
15:40–16:00
Coffee Break/ Sponsor Visits
16:00–17:00 Session 6 Animal Models
16:00–16:15
A novel mouse model of Acrodysostosis Type 2 displays sex-specific phenotypes and responses to treatment
16:15–16:30
Spinal Kyphosis and Intervertebral Disc Degeneration in a Mouse Model of Diastrophic Dysplasia
16:30–16:45
(-)-epicatechin treatment improves defective bone growth and memory impairments in a mouse model of Hypochondroplasia
16:45–17:00
CCN6 knockout sheep as a model for Progressive Pseudorheumatoid Arthropathy of Childhood
17:00–17:30
Maroteaux Award
Saturday, August 29, 2026
08:00–09:00
Breakfast
09:00–10:30 Session 7 Care and Monitoring
09:00–09:15
Exploring the experiences of Canadian patients and their families impacted by fibrodysplasia ossificans progressiva (FOP).
09:15–09:30
Cervical kyphosis and its management in patients with SOX9-associated skeletal dysplasias
09:30–09:45
Diagnosis, treatment, and management recommendations for cleidocranial dysplasia (CCD): A modified Delphi panel
09:45–10:00
Feeding, Nutrition, and Physical Activity From the Perspectives of People With Skeletal Dysplasia in Australia and Norway: A Mixed Qualitative Methods Study
10:00–10:15
Postoperative spine care in adults with skeletal dysplasia
10:15–10:30
Gene Disease Relationships Curated in the ClinGen Skeletal Disorders Gene Curation Expert Panel
10:30–11:15
Brunch Break
11:15–12:30 Session 8 Functional Characterization
11:15–11:30
Relocalization of FGFR inhibitors for achondroplasia
11:30–11:45
Characterization of the molecular mechanisms driving CBFB-related cleidocranial dysplasia (CLCD2)
11:45–12:00
KIF22-Mediated Polar Ejection Force Dysfunction in Skeletal Dysplasia: Distinct Mechanisms of Dominant and Recessive Variants
12:00–12:15
Variants in CPLANE1 associated with Majewski syndrome (SRP-II) expand the phenotypical spectrum of this gene
12:15–12:30
Clinical and molecular characterization of 18 patients with acrodysostosis and genotype-phenotype correlations
12:30–13:00
Awards and Closing
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