| 08h30-09h00: Welcome Address by Geert Mortier and Wim Van Hul
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09h00-10h30: Session 1: New phenotypes and Genes
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| 09h00 | Heath Karen - Mutations in C-Natriuretic Peptide (CNP): a novel cause of autosomal dominant short stature and brachydactyly
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| 09h15 | Campeau Philippe - Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with “corner fractures”
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| 09h30 | Grigelioniene Giedre - A neomorphic mutation in a microRNA gene causes a new human spondyloepiphyseal dysplasia
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| 09h45 | Ikegawa Shiro - Axial spondylometaphyseal dysplasia- a specific form of skeletal ciliopathy with growing complexity
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| 10h00 | Bonafe Luisa - NANS-mediated synthesis of sialic acid is required for brain and skeletal development
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| 10h15 | Simsek-Kiper Pelin - Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: a RSPRY1-associated spondylo-epi-metaphyseal dysplasia wıth cono-brachydactyly and craniosynostosis
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| 10h30-11h00 Coffee break
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11h00-12h15 Session 2: Lessons from animal models
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| 11h00 | Paganini Chiara - Proteoglycan synthesis defects in an in vivo model of Desbuquois dysplasia type 1
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| 11h15 | Dennis Ella - The role of Creld2 in skeletal development and disease
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| 11h30 | Woods Steven - Using patient derived induced pluripotent stem cells to model multiple epiphyseal dysplasia
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| 11h45 | Gibson Beth - The disease mechanisms of skeletal dysplasia caused by two aggrecan mutations
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| 12h00 | Zaucke Frank - Does a matrilin-3 mutation (p.T298M) knock-in mouse model mimic human osteoarthritis?
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| 12h15-13h15 Lunch
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13h15-15h00: Session 3: NGS in large cohorts
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| 13h15 | Botto Lorenzo - Penelope and the skeleton: Value of an undiagnosed disease program in the diagnosis, discovery and care of children with genetic bone disorders
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| 13h30 | Alhashem Amal - Comprehensive clinical and genomic analysis of a large skeletal dysplasia cohort
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| 13h45 | Michot Caroline - Use and efficiency of targeted NGS panel in skeletal dysplasias: experience on 330 patients
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| 14h00 | Cavalcanti Denise - High succes in molecular studies among 215 skeletal dysplasias in Brazil
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| 14h15 | Beleza-Meireles Ana - Next-generation diagnostic service for skeletal dysplasia diagnosis - our experience
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| 14h30 | Barraza-Garcia J - Results of the analysis of 370 probands using a skeletal dysplasia next-generation sequencing panel
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| 14h45 | Girisha Katta - A decade of experience of molecular testing for skeletal dysplasia in India
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| 15h00-15h30 Coffee break
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| 15h30-17h30 Social Program in Bruges
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08h30-09h45 Session 4: Cellular and animal models
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| 08h30 | Besio Roberta - Cellular response to mutant collagen type I in patients with osteogenesis imperfecta can be a novel therapeutic target
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| 08h45 | Duran Ivan - Misregulation of a chaperone complex that modulates lysyl hydroxylation of type I procollagen causes osteogenesis imperfecta
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| 09h00 | Boudin Eveline - Mutations in LRP4 can cause sclerosteosis in human and in mice
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| 09h15 | Biosse Duplan Martin - Activating FGFR3 mutation in osteoblast affects appendicular and cranio-facial skeleton development
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| 09h30 | Authier Florence - Longitudinal bone growth velocity assessment by near-infrared imaging in a murine model of achondroplasia
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| 09h45-10h15 Coffee break
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10h15-10h45 David Rimoin lecture
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| 10h15 | Cohn Daniel - Genomic architecture of the skeletal ciliopathies
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10h45-12h00 Session 5: Genes and phenotypes
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| 10h45 | Sousa Sérgio B - Clinical and radiological characterization of EXTL3-related skeletal phenotype
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| 11h00 | Superti-Furga Andrea - Exostosin-like 3 (EXTL3) deficiency: an autosomal recessive condition that impairs synthesis of heparan sulfate and affects bone, brain and the immune system
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| 11h15 | Sutton V Reid - New genes for Robinow syndrome allow genotype-phenotype correlations that inform prognosis and gene function
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| 11h30 | Smithson Sarah - Brachyolmia resulting from mutations in PAPSS2
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| 11h45 | Zankl Andreas - Systematic phenotypic characterisation of skeletal dysplasias with the human phenotype ontology
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| 12h00-13h00 ISDS General Assembly
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| 13h00-14h00 Lunch
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14h00-15h00 Session 6: Severe perinatal disorders
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| 14h00 | Corme-Daire Valerie - Jeune thoracic dysplasia/short rib-polydactyly type III: clinical and molecular review of 125 cases
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| 14h15 | Nishimura Gen - Previously unrecognized lethal dysostoses
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| 14h30 | Murotsuki Jun - A new proposed classification of perinatal lethal hypophosphatasia after introduction of enzyme replacement therapy
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| 14h45 | Calder Alistair - Novel imaging techniques in skeletal dysplasias: The use of micro-CT
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| 15h00-16h30 Poster Session
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| 16h00-16h30 Coffee break
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16h30-18h00 Session 7: More on phenotype and natural history
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| 16h30 | Vanhoenacker Filip - Gaucher's disease: Imaging biomarker for monitoring bone marrow involvement
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| 16h45 | Nampoothiri Sheela - Mucolipidosis III Gamma: Clinical characterization and molecular analysis in 17 patients from India, Turkey and North America
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| 17h00 | Carminho Rodrigues Maria Teresa - Intermediate autosomal recessive osteopetrosis: Long-term follow up on 3 cases with CLCN7 mutations
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| 17h15 | Hoover-Fong Julie - Achondroplasia natural history: the power of a multi-center clinical study
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| 17h30 | Savarirayan Ravi - Disruptive, targeted emerging therapies in skeletal dysplasias
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| 17h45 | Superti-Furga Andrea - Deficiency of sFRP4, a soluble LRP receptor antagonist, impairs the formation of cortical bone and results in Pyle disease
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| 19h00-01h00 Dinner and party
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09h00-10h30 Session 8: Animal models for treatment
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| 09h00 | Hecht Jacqueline - Novel therapeutic interventions for pseudoachondroplasie
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| 09h15 | Boot-Handford Ray - Stimulating intracellular proteolysis reduces disease severity in an ER stress-related chondrodysplasia
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| 09h30 | Forlino Antonella - Use of chemical chaperones to target cellular stress in Chihuahua, a zebrafish model of dominant osteogenesis imperfecta
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| 09h45 | Shih Fei - Efficacy of palovarotene oral treatment on prevention of osteochondroma formation in the Fsp1-Ext1 conditional knockout mouse model of multiple osteochondromas
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| 10h00 | Kitoh Hiroshi - Oral administration of meclozine for the treatment of short stature in achondroplasia
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| 10h15 | Saint-Laurent Celine - FLAG-sFGFR3 treatment prevents the metabolic deregulations in achondroplasia
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| 10h30-11h00 Coffee break
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11h00-12h15 Session 9: Treatment: ready for patients?
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| 11h00 | Invited Lecture: Luyten Frank - Tissue engineering for the healing of large bone defects
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| 11h30 | Biomarin Corporate Lecture: Quartel Adrian - Who we are, what we do
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| 11h45 | Irving Melita - Hajdu-Cheney syndrome: current treatments and drug repositioning strategies in severe osteoporosis
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| 12h00 | Baujat Geneviève - Results from a randomized, placebo-controlled, double-blind study of palovarotene in subjects with fibrodysplasia ossificans progressiva
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| 12h15-12h30 Awards and closing remarks
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| P01 | Moosa Shahida - Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2
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| P02 | Barber Joy - Magnetic resonance imaging findings in skeletal dysplasias: understanding of cartilage uncovered by the magnet
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| P03 | Sentchordi Montane Lucia - Expanding the clinical and molecular spectrum of heterozygous ACAN mutations
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| P04 | Merckoll Else - Trichorhinophalangeal syndrome type 1 with unilateral ectrodactyly
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| P05 | Sanchez Ana Isabel - A new TPRV4 mutation: wide spectrum of phenotypic presentation among skeletal dysplasias. A case report of metatropic dysplasia
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| P06 | Villaseñor-Dominguez America - Novel homozygous LRP4 inframe deletion in Cenani-Lenz syndrome with neurological abnormalities
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| P07 | Robin Jennifer - How occupational therapy intervention within a multidisciplinary bone dysplasia clinic can promote functional independence for children with skeletal dysplasia
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| P08 | Aza-Carmona Miriam - Identification of the second case of spondylocostal dysostosis due to a mutation in LFNG
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| P09 | Fano Virginia - FGFR3 related-hypochondroplasia: Retrospective Growth and anthropometric studies in 55 children with the N540K mutation
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| P10 | Pizarro Javier G - Characterisation of a murine model of spondyloepiphyseal dysplasia congenita
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| P11 | Kant Sarina - Four novel ACAN mutations and a deletation in eight children without consistently advanced bone age
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| P12 | Miller Stephen - Maternal conditions associated with secondary chondrodysplasia punctata
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| P13 | Miller Stephen - Evolution of intramedullary cystic bone lesions in a patient with congenital generalized lipodystrophy
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| P14 | Hecht Jacqueline - MT-comp compromises bone integrity and joint function
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| P15 | Forbes Robin - Are we there yet? Audit to assess needs of families with skeletal dysplasias in 2017:The Australian perspective
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| P16 | Smithson Sarah - Spondyloepimetaphyseal dysplasia and cerebral hypomyelination: a distinct genetic entity?
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| P17 | Baujat Geneviève - Fibrodysplasia ossificans progressiva (FOP) progression as assessed by two measures of functional and physical disability
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| P18 | Chacon Fonseca Inara - Refining the phenotype of the spondyloepimetaphyseal dysplasia Faden-Alkuraya: Description of a new patient with homozygous mutation in RSPRY1 gene
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| P19 | Pedrini Elena - New evidences for osteochondroma growth in multiple osteochondromas disease
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| P20 | Paganini Chiara - Post-natal treatment with n-acetylcysteine of a mouse model of diastrophic dysplasia
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| P21 | Pollazzon Marzia - Our experience in multiple congenital congenital contractures - Amyoplasie and distal arthrogryposis
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| P22 | Garavelli Livia - Clinical and molecular diagnosis of osteocraniostenosis in a fetus
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| P23 | De Las Heras Ruiz Thais - Designing a 3-dimensional in vitro model of articular cartilage for the study of cartilage-related diseases
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| P24 | Mordenti Marina - Italian registry of multiple exostoses: A useful tool to investigate disease progression during childhood
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| P25 | Skraban Cara - TRPS1 biallelic null; a severe lethal skeletal dysplasia
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| P26 | Shediac Renee - Presenting signs and symptoms of MPS: Results of a systematic literature analysis
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| P27 | Shediac Renee - Presenting signs and symptoms of MPS: Results of an international physician survey
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| P28 | Rustad Cecilie F - Angel-shaped phalanges in spondyloperipheral dysplasia
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| P29 | Santos-Simarro Fernando - Somatic mosaicism in EXT2 detected by Next Generation Sequencing, is there still space for a EXT3 locus?
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| P30 | Grigelioniene Giedre - De Hauwere syndrome is associated with a 5kb deletion involving FOXC1 gene: Narrowing the critical region of a previously described rare phenotype
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| P31 | Faden Maha - Skeletal dysplasia disorders in Saudi Arabian's population
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| P32 | Varshney Kruti - Dyggve-Melchior-Clausen syndrome and Smith-Mccort dysplasia: a case series of 8 patients from India
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| P33 | Revenu Nicole - De novo heterozygous CHUK mutation in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia
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| P34 | Garcia Cristian - Mc Cune-Albright Syndrome. Different faces of a single disease
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| P35 | Cevik Muhammer Ozgur - A consanguineous family with hereditary sensory and autonomic neuropathy type II (HSAN-2)
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| P36 | Glass Emma - Patient and public involvement (PPI) in designing clinical trials for rare diseases - the achondroplasia experience
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| P37 | Hammarsjö Anna - Deleterious variants in KIAA0753 are responsible for a new type of skeletal dysplasia
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| P38 | Cormier-Daire Valérie - Ghosal syndrome can mimic inflammatory condition
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| P39 | Offiah Amaka - Cole Carpenter syndrome type 1 (P4HB Missense Mutation) has a distinct skeletal phenotype
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| P40 | Offiah Amaka - Reliability of bone age assessment using Greulich & Pyle and Tanner & Whitehouse 3 methods for different ethnic populations: A systematic review
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| P41 | Mellado Cecilia - Prevalence of skeletal dysplasias in Chile
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| P42 | Rivera-Pedroza Carlos Iván - Improving the molecular diagnosis in prenatally diagnosed skeletal dysplasias
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| P43 | Leal Ferraz Gabriela - Lethal mesomelic dysplasia Reardon-Kozlowski is at the most severe end of lysyl hydroxylase-2-related skeletal disorders
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| P44 | Kannu Peter - Enzyme replacement therapy in perinatal hypophosphatasia: case report and recommendations for clinical practice
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| P45 | Mendoza-Londono Roberto - Attenuated phenotype in a patient with autosomal recessive osteopetrosis due to a novel TCIRG1 mutation
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| P46 | Yamamoto Guilherme - Molecular study of patients with vertebral segmentation abnormalities in a Brazilian cohort
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| P47 | Pirog Katarzyna - Investigating the SEMDJL disease causing mutations in Kif22 in skeletal development and disease
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| P48 | Shinawi Marwan - LBR-related disorders are associated with a spectrum of skeletal dysplasia phenotypes
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| P49 | Agolini Emanuele - Expanding the clinical and molecular spectrum of SBIDDS syndrome: three additional patients with homozygous mutations in PRMT7
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| P50 | Leroy Jules - FRIZZLED2 mutation confirmed in a previously described and identified in a new patient with AD omodysplasia
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| P51 | Brekelmans Carlijn - NF1-related pseudoarthrosis: beyond the pseudoarthrosis site
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| P52 | Tug Bozdogan Sevcan - Whole exome sequencing reveals a novel ERBB3 mutation that defines a milder form of lethal congenital contracture syndrome
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| P53 | Hlazkin Leanid - Dysplasia epiphysealis hemimelica of proximal femur
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| P54 | Sawai Hideaki - Nationwide survey of physical and mental development of long-term surviving individuals of thanatophoric dysplasia in Japan
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Registration open20 February 2017
Deadline early bird registration17 July 2017
