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Wednesday 20 September 2017
Thursday 21 September 2017
Friday 22 September 2017
Saturday 23 September 2017
Poster Session

Wednesday 20 September 2017

19h00-21h00Welcome reception at the City Hall

Thursday 21 September 2017

08h30-09h00: Welcome Address by Geert Mortier and Wim Van Hul
09h00-10h30: Session 1: New phenotypes and Genes
09h00Heath Karen - Mutations in C-Natriuretic Peptide (CNP): a novel cause of autosomal dominant short stature and brachydactyly
09h15Campeau Philippe - Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with “corner fractures”
09h30Grigelioniene Giedre - A neomorphic mutation in a microRNA gene causes a new human spondyloepiphyseal dysplasia
09h45Ikegawa Shiro - Axial spondylometaphyseal dysplasia- a specific form of skeletal ciliopathy with growing complexity
10h00Bonafe Luisa - NANS-mediated synthesis of sialic acid is required for brain and skeletal development
10h15Simsek-Kiper Pelin - Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: a RSPRY1-associated spondylo-epi-metaphyseal dysplasia wıth cono-brachydactyly and craniosynostosis
10h30-11h00 Coffee break
11h00-12h15 Session 2: Lessons from animal models
11h00Paganini Chiara - Proteoglycan synthesis defects in an in vivo model of Desbuquois dysplasia type 1
11h15Dennis Ella - The role of Creld2 in skeletal development and disease
11h30Woods Steven - Using patient derived induced pluripotent stem cells to model multiple epiphyseal dysplasia
11h45Gibson Beth - The disease mechanisms of skeletal dysplasia caused by two aggrecan mutations
12h00Zaucke Frank - Does a matrilin-3 mutation (p.T298M) knock-in mouse model mimic human osteoarthritis?
12h15-13h15 Lunch
13h15-15h00: Session 3: NGS in large cohorts
13h15Botto Lorenzo - Penelope and the skeleton: Value of an undiagnosed disease program in the diagnosis, discovery and care of children with genetic bone disorders
13h30Alhashem Amal - Comprehensive clinical and genomic analysis of a large skeletal dysplasia cohort
13h45Michot Caroline - Use and efficiency of targeted NGS panel in skeletal dysplasias: experience on 330 patients
14h00Cavalcanti Denise - High succes in molecular studies among 215 skeletal dysplasias in Brazil
14h15Beleza-Meireles Ana - Next-generation diagnostic service for skeletal dysplasia diagnosis - our experience
14h30Barraza-Garcia J - Results of the analysis of 370 probands using a skeletal dysplasia next-generation sequencing panel
14h45Girisha Katta - A decade of experience of molecular testing for skeletal dysplasia in India
15h00-15h30 Coffee break
15h30-17h30 Social Program in Bruges

Friday 22 September 2017

08h30-09h45 Session 4: Cellular and animal models
08h30Besio Roberta - Cellular response to mutant collagen type I in patients with osteogenesis imperfecta can be a novel therapeutic target
08h45Duran Ivan - Misregulation of a chaperone complex that modulates lysyl hydroxylation of type I procollagen causes osteogenesis imperfecta
09h00Boudin Eveline - Mutations in LRP4 can cause sclerosteosis in human and in mice
09h15Biosse Duplan Martin - Activating FGFR3 mutation in osteoblast affects appendicular and cranio-facial skeleton development
09h30Authier Florence - Longitudinal bone growth velocity assessment by near-infrared imaging in a murine model of achondroplasia
09h45-10h15 Coffee break
10h15-10h45 David Rimoin lecture
10h15Cohn Daniel - Genomic architecture of the skeletal ciliopathies
10h45-12h00 Session 5: Genes and phenotypes
10h45Sousa Sérgio B - Clinical and radiological characterization of EXTL3-related skeletal phenotype
11h00Superti-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
11h15Sutton V Reid - New genes for Robinow syndrome allow genotype-phenotype correlations that inform prognosis and gene function
11h30Smithson Sarah - Brachyolmia resulting from mutations in PAPSS2
11h45Zankl Andreas - Systematic phenotypic characterisation of skeletal dysplasias with the human phenotype ontology
12h00-13h00 ISDS General Assembly
13h00-14h00 Lunch
14h00-15h00 Session 6: Severe perinatal disorders
14h00Corme-Daire Valerie - Jeune thoracic dysplasia/short rib-polydactyly type III: clinical and molecular review of 125 cases
14h15Nishimura Gen - Previously unrecognized lethal dysostoses
14h30Murotsuki Jun - A new proposed classification of perinatal lethal hypophosphatasia after introduction of enzyme replacement therapy
14h45Calder Alistair - Novel imaging techniques in skeletal dysplasias: The use of micro-CT
15h00-16h30 Poster Session
16h00-16h30 Coffee break
16h30-18h00 Session 7: More on phenotype and natural history
16h30Vanhoenacker Filip - Gaucher's disease: Imaging biomarker for monitoring bone marrow involvement
16h45Nampoothiri Sheela - Mucolipidosis III Gamma: Clinical characterization and molecular analysis in 17 patients from India, Turkey and North America
17h00Carminho Rodrigues Maria Teresa - Intermediate autosomal recessive osteopetrosis: Long-term follow up on 3 cases with CLCN7 mutations
17h15Hoover-Fong Julie - Achondroplasia natural history: the power of a multi-center clinical study
17h30Savarirayan Ravi - Disruptive, targeted emerging therapies in skeletal dysplasias
17h45Superti-Furga Andrea - Deficiency of sFRP4, a soluble LRP receptor antagonist, impairs the formation of cortical bone and results in Pyle disease
19h00-01h00 Dinner and party

Saturday 23 September 2017

09h00-10h30 Session 8: Animal models for treatment
09h00Hecht Jacqueline - Novel therapeutic interventions for pseudoachondroplasie
09h15Boot-Handford Ray - Stimulating intracellular proteolysis reduces disease severity in an ER stress-related chondrodysplasia
09h30Forlino Antonella - Use of chemical chaperones to target cellular stress in Chihuahua, a zebrafish model of dominant osteogenesis imperfecta
09h45Shih Fei - Efficacy of palovarotene oral treatment on prevention of osteochondroma formation in the Fsp1-Ext1 conditional knockout mouse model of multiple osteochondromas
10h00Kitoh Hiroshi - Oral administration of meclozine for the treatment of short stature in achondroplasia
10h15Saint-Laurent Celine - FLAG-sFGFR3 treatment prevents the metabolic deregulations in achondroplasia
10h30-11h00 Coffee break
11h00-12h15 Session 9: Treatment: ready for patients?
11h00Invited Lecture: Luyten Frank - Tissue engineering for the healing of large bone defects
11h30Biomarin Corporate Lecture: Quartel Adrian - Who we are, what we do
11h45Irving Melita - Hajdu-Cheney syndrome: current treatments and drug repositioning strategies in severe osteoporosis
12h00Baujat Geneviève - Results from a randomized, placebo-controlled, double-blind study of palovarotene in subjects with fibrodysplasia ossificans progressiva
12h15-12h30 Awards and closing remarks

Poster Session

P01Moosa Shahida - Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2
P02Barber Joy - Magnetic resonance imaging findings in skeletal dysplasias: understanding of cartilage uncovered by the magnet
P03Sentchordi Montane Lucia - Expanding the clinical and molecular spectrum of heterozygous ACAN mutations
P04Merckoll Else - Trichorhinophalangeal syndrome type 1 with unilateral ectrodactyly
P05Sanchez Ana Isabel - A new TPRV4 mutation: wide spectrum of phenotypic presentation among skeletal dysplasias. A case report of metatropic dysplasia
P06Villaseñor-Dominguez America - Novel homozygous LRP4 inframe deletion in Cenani-Lenz syndrome with neurological abnormalities
P07Robin Jennifer - How occupational therapy intervention within a multidisciplinary bone dysplasia clinic can promote functional independence for children with skeletal dysplasia
P08Aza-Carmona Miriam - Identification of the second case of spondylocostal dysostosis due to a mutation in LFNG
P09Fano Virginia - FGFR3 related-hypochondroplasia: Retrospective Growth and anthropometric studies in 55 children with the N540K mutation
P10Pizarro Javier G - Characterisation of a murine model of spondyloepiphyseal dysplasia congenita
P11Kant Sarina - Four novel ACAN mutations and a deletation in eight children without consistently advanced bone age
P12Miller Stephen - Maternal conditions associated with secondary chondrodysplasia punctata
P13Miller Stephen - Evolution of intramedullary cystic bone lesions in a patient with congenital generalized lipodystrophy
P14Hecht Jacqueline - MT-comp compromises bone integrity and joint function
P15Forbes Robin - Are we there yet? Audit to assess needs of families with skeletal dysplasias in 2017:The Australian perspective
P16Smithson Sarah - Spondyloepimetaphyseal dysplasia and cerebral hypomyelination: a distinct genetic entity?
P17Baujat Geneviève - Fibrodysplasia ossificans progressiva (FOP) progression as assessed by two measures of functional and physical disability
P18Chacon Fonseca Inara - Refining the phenotype of the spondyloepimetaphyseal dysplasia Faden-Alkuraya: Description of a new patient with homozygous mutation in RSPRY1 gene
P19Pedrini Elena - New evidences for osteochondroma growth in multiple osteochondromas disease
P20Paganini Chiara - Post-natal treatment with n-acetylcysteine of a mouse model of diastrophic dysplasia
P21Pollazzon Marzia - Our experience in multiple congenital congenital contractures - Amyoplasie and distal arthrogryposis
P22Garavelli Livia - Clinical and molecular diagnosis of osteocraniostenosis in a fetus
P23De Las Heras Ruiz Thais - Designing a 3-dimensional in vitro model of articular cartilage for the study of cartilage-related diseases
P24Mordenti Marina - Italian registry of multiple exostoses: A useful tool to investigate disease progression during childhood
P25Skraban Cara - TRPS1 biallelic null; a severe lethal skeletal dysplasia
P26Shediac Renee - Presenting signs and symptoms of MPS: Results of a systematic literature analysis
P27Shediac Renee - Presenting signs and symptoms of MPS: Results of an international physician survey
P28Rustad Cecilie F - Angel-shaped phalanges in spondyloperipheral dysplasia
P29Santos-Simarro Fernando - Somatic mosaicism in EXT2 detected by Next Generation Sequencing, is there still space for a EXT3 locus?
P30Grigelioniene Giedre - De Hauwere syndrome is associated with a 5kb deletion involving FOXC1 gene: Narrowing the critical region of a previously described rare phenotype
P31Faden Maha - Skeletal dysplasia disorders in Saudi Arabian's population
P32Varshney Kruti - Dyggve-Melchior-Clausen syndrome and Smith-Mccort dysplasia: a case series of 8 patients from India
P33Revenu Nicole - De novo heterozygous CHUK mutation in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia
P34Garcia Cristian - Mc Cune-Albright Syndrome. Different faces of a single disease
P35Cevik Muhammer Ozgur - A consanguineous family with hereditary sensory and autonomic neuropathy type II (HSAN-2)
P36Glass Emma - Patient and public involvement (PPI) in designing clinical trials for rare diseases - the achondroplasia experience
P37Hammarsjö Anna - Deleterious variants in KIAA0753 are responsible for a new type of skeletal dysplasia
P38Cormier-Daire Valérie - Ghosal syndrome can mimic inflammatory condition
P39Offiah Amaka - Cole Carpenter syndrome type 1 (P4HB Missense Mutation) has a distinct skeletal phenotype
P40Offiah Amaka - Reliability of bone age assessment using Greulich & Pyle and Tanner & Whitehouse 3 methods for different ethnic populations: A systematic review
P41Mellado Cecilia - Prevalence of skeletal dysplasias in Chile
P42Rivera-Pedroza Carlos Iván - Improving the molecular diagnosis in prenatally diagnosed skeletal dysplasias
P43Leal Ferraz Gabriela - Lethal mesomelic dysplasia Reardon-Kozlowski is at the most severe end of lysyl hydroxylase-2-related skeletal disorders
P44Kannu Peter - Enzyme replacement therapy in perinatal hypophosphatasia: case report and recommendations for clinical practice
P45Mendoza-Londono Roberto - Attenuated phenotype in a patient with autosomal recessive osteopetrosis due to a novel TCIRG1 mutation
P46Yamamoto Guilherme - Molecular study of patients with vertebral segmentation abnormalities in a Brazilian cohort
P47Pirog Katarzyna - Investigating the SEMDJL disease causing mutations in Kif22 in skeletal development and disease
P48Shinawi Marwan - LBR-related disorders are associated with a spectrum of skeletal dysplasia phenotypes
P49Agolini Emanuele - Expanding the clinical and molecular spectrum of SBIDDS syndrome: three additional patients with homozygous mutations in PRMT7
P50Leroy Jules - FRIZZLED2 mutation confirmed in a previously described and identified in a new patient with AD omodysplasia
P51Brekelmans Carlijn - NF1-related pseudoarthrosis: beyond the pseudoarthrosis site
P52Tug Bozdogan Sevcan - Whole exome sequencing reveals a novel ERBB3 mutation that defines a milder form of lethal congenital contracture syndrome
P53Hlazkin Leanid - Dysplasia epiphysealis hemimelica of proximal femur
P54Sawai Hideaki - Nationwide survey of physical and mental development of long-term surviving individuals of thanatophoric dysplasia in Japan

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