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Preliminary Programme


Thursday 21 September 2017

09h00 – 10h30: Session 1: New phenotypes and Genes
ISDS/038Mutations in C-Natriuretic Peptide (CNP): a novel cause of autosomal dominant short stature and brachydactyly.
Heath KE
ISDS/083Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with “corner fractures”
Lee CS
ISDS/105A neomorphic mutation in a microRNA gene causes a new human spondyloepiphyseal dysplasia
Grigelioniene G.
ISDS/026Axial spondylometaphyseal dysplasia- a specific form of skeletal ciliopathy with growing complexity
Ikegawa S
ISDS/156NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Bonafe L.
ISDS/123Further delineation of spondyloepimetaphyseal dysplasia faden-alkuraya type: a rspry1-associated spondylo-epi-metaphyseal dysplasia wıth cono-brachydactyly and craniosynostosis
Simsek-Kiper
11h00 – 12h30 : Session 2: Lessons from animal models
ISDS/077proteoglycan synthesis defects in an in vivo model of desbuquois dysplasia type 1
Paganini C
ISDS/149Investigating the SEMDJL disease causing mutations in Kif22 in skeletal development and disease
Pirog K.A
ISDS/113The role of Creld2 in skeletal development and disease.
Dennis E. P
ISDS/091Using patient derived induced pluripotent stem cells to model multiple epiphyseal Dysplasia
Steven Woods1
ISDS/043The disease mechanisms of skeletal dysplasia caused by two aggrecan mutations
Gibson B.G
ISDS/041Does a matrilin-3 mutation (p.T298M) knock-in mouse model mimic human osteoarthritis?
Zaucke F
13h30 – 15h15: Session 3: NGS in large cohorts
ISDS/033Penelope and the skeleton: Value of an undiagnosed disease program in the diagnosis, discovery and care of children with genetic bone disorders
Botto L.D
ISDS/109Comprehensive clinical and genomic analysis of a large skeletal dysplasia cohort
Alhashem Amal
ISDS/111Use and efficiency of targeted NGS panel in skeletal dysplasias: experience on 330 patients
Michot C.
ISDS/117High succes in molecular studies among 215 Skeletal Dysplasias in Brazil
Cavalcanti D.P
ISDS/069Next-generation diagnostic service for skeletal dysplasia diagnosis - our experience
Beleza-Meireles A
ISDS/134Results of the analysis of 370 probands using a Skeletal Dysplasia Next-Generation Sequencing panel
Barraza-Garcia J.
ISDS/052A decade of experience of molecular testing for skeletal dysplasia in India
Girisha Katta

Friday 22 September 2017

08h30 – 09h45: Session 4: Cellular and animal models
ISDS/062Cellular response to mutant collagen type I in patients with osteogenesis imperfecta can be a novel therapeutic target
Besio R.
ISDS/031Misregulation of a chaperone complex that modulates lysyl hydroxylation of Type I procollagen causes Osteogenesis Imperfecta
Duran, I.
ISDS/157Mutations in LRP4 can cause sclerosteosis in human and in mice
Boudin E
ISDS/102Activating FGFR3 mutation in osteoblast affects appendicular and cranio-facial skeleton development
Biosse Duplan M
ISDS/061Longitudinal bone growth velocity assessment by near-infrared imaging in a murine model of achondroplasia
Florence Authier
10h15 – 11h45: David Rimoin lecture :
Cartilage – selective Gene Expression and mechanisms of disease in the Skeletal Dysplasias
Daniel Cohn
10h45 – 12h00: Session 5: Genes and phenotypes
ISDS/112Clinical and Radiological characterization of EXTL3-related Skeletal Phenotype
Sousa S.B
ISDS/154Exostosin-like 3 (EXTL3) deficiency: an autosomal recessive condition that impairs synthesis of heparan sulfate and affects bone, brain and the immune system
S. Volpi
ISDS/118New genes for Robinow syndrome allow genotype-phenotype correlations that inform prognosis and gene function
Sutton, V.R.
ISDS/063Brachyolmia resulting from mutations in PAPSS2
Smithson S
ISDS/021Systematic Phenotypic Characterisation of Skeletal Dysplasias with the Human Phenotype Ontology
Zankl Andreas
13h00 – 14h00: ISDS Membership Meeting
14h30 – 17h00: Session 6: Severe perinatal disorders
ISDS/092Jeune thoracic dysplasia/short rib-polydactyly type III: clinical and molecular review of 125 cases
Cormier-Daire V
ISDS/098previously unrecognized lethal dysostoses
Nishimura Gen
ISDS/132A new proposed classification of Perinatal Lethal Hypophosphatasia after introduction of enzyme replacement therapy
Murotsuki J
ISDS/010Novel Imaging Techniques in Skeletal Dysplasias: The use of Micro-CT
Shelmerdine S
17h00 – 18h00: Session 7: More on phenotype and natural history
Invited lecture:GAUCHER ‘S DISEASE: Imaging Biomarker for Monitoring Bone Marrow Involvement
Filip Vanhoenacker
ISDS/024Mucolipidosis III Gamma: Clinical characterization and molecular analysis in 17 patients from India, Turkey and North America
Nampoothiri S
ISDS/034Intermediate Autossomal Recessive Osteopetrosis: Long-term Follow up on 3 cases with CLCN7 mutations
Carminho-Rodrigues T
ISDS/099Achondroplasia Natural History: the power of a multi-center clinical study
Hoover-Fong JE
ISDS/040Disruptive, targeted emerging therapies in skeletal dysplasias.
Savarirayan, R
ISDS/153Deficiency of sFRP4, a soluble LRP receptor antagonist, impairs the formation of cortical bone and results in Pyle disease
Pelin Ozlem Kiper-Simsek

Saturday 23 September 2017

09h00 – 10h30: Session 8: Animal models for treatment
ISDS/059Novel therapeutic interventions for pseudoachondroplasie
Hecht
ISDS/146Stimulating intracellular proteolysis reduces disease severity in an ER stress-related chondrodysplasia
Boot-Handford, Ray
ISDS/070Use of chemical chaperones to target cellular stress in chihuahua, a zebrafish model of dominant osteogenesis imperfecta
Tonelli F
ISDS/054Efficacy of palovarotene oral treatment on prevention of osteochondroma formation in the Fsp1-Ext1 conditional knockout mouse model of multiple osteochondromas
Lemire I
ISDS/152Oral administration of meclozine for the treatment of short stature in achondroplasia
Matsushita M
ISDS/030FLAG-sFGFR3 treatment prevents the metabolic deregulations in achondroplasia
Celine Saint-Laurent
11h00 – 12h15: Session 9: Treatment: ready for patients?
Invited lecture:Tissue Engineering for the Healing of Large Bone Defects.
Frank Luyten
Biomarin Corporate Symposium - Who We Are, What We Do
Quartel A
ISDS/119Hajdu-Cheney syndrome: current treatments and drug repositioning strategies in severe osteoporosis
Irving M
ISDS/047Results from a Randomized, Placebo-Controlled, Double-Blind Study of Palovarotene in Subjects with Fibrodysplasia Ossificans Progressiva (FOP)
Kaplan F

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