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DTSTART;TZID=America/New_York:20090209T080000
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SUMMARY:ISDS 8th Meeting 2007
DESCRIPTION:Organised by Valérie Cormier-Daire\, Martine LeMerrer and Laurence Legeai-Mallet\nAlbi\, France \nAbstract Book and List of Participants (PDF) \nView 2007 Photo Gallery\n  \nSCIENTIFIC PROGRAM \nThursday July 19\n13h30. Opening.\n15h-15H30\nWelcome and Introduction\nPierre Maroteaux : Toulouse-Lautrec\n15h30-16H45 NEW GENES\n15h30. GDF5 and OA - of Human and of Mouse.\nS. Ikegawa. Laboratory for Bone and Joint diseases\, SNP Research Center. Riken\, Japan\n15h45. Mutations in PLEKHM1 involved in vesicular transport in osteoclasts cause osteopetrosis. B. Perdu\, Department of Medical Genetics\, University and Hospital of Antwerp\, Antwerp\, Belgium\n16h00. Mutations in aggregan (AGC1) cause Dexter cattle chondrodysplasia.\nR. Savarirayan\, Murdoch Childrens Research Institute and University of Melbourne\, Melbourne\, Australia\n16h15. AGC1 gene missense mutation associated with familial osteochondritis dissecans and early osteoarthritis. E.L. Stattin\, Deparment of Medical Biosciences\, Medical and Clinical genetics\, Umea University\, Umea\, Sweden.\n16h30. Autosomal recessive hypophosphatemia caused by a homozygous mutation in DMP1. O. Mäkitie\, Hospital for Children and Adolescents\, University of Helsinki\, Helsinki\, Finland\n16h45-17h15 Break\n17h15-18h30 Late Breaking News\n17h15. Molecular pathology of Metaphyseal anadysplasia.\nE. Lausch\, Universitäts-Kinderklinik Mainz\, Mainz\, Germany\n17h30. Molecular basis of Ghosal syndrome.\nD. Genevieve\, Department of Genetics and INSERM U781\, Hôpital Necker-Enfants-Malades\, Paris-France\nEvening: Dinner Mairie d’Albi \n***\nFriday July 20\n9h-10h15. Clinical delineation\n9h00. Skeletal dysplasia in the Vienna collection.\nP Beighton\, Faculty of Health Sciences\, University of Cape Town\, Cape Town\, South Africa\n9h10. The skeletal phenotype of Schimke immuno-osseous dysplasia.\nSF. Smithson \, Deparment of Clinical Genetics\, St Michael’s hospital\, Bristol\, UK\n9h20. The clinical and radiological phenotype of Shprinzen-Goldberg syndrome: five new cases. C. Hall\, Deparment of Radiology and Clinical Genetics\, Great Ormond Street Hospital\, London\, UK\n9h30. Defining disorders with Erlenmeyer Flask Bone Deformity.\nM A. Faden\, Medical Genetics Institute\, Cedars-Sinai Medical Center\, Los Angeles\, USA\n9H40. Towards a better delineation of Odontochondrodysplasia.\nA. Superti-Furga\, Ctr for Peds and Inst Hum Genet\, University of Freiburg\, Germany\n9h50. Detection of microdeletions in limb malformation syndromes: a microdeletion in thrombocytopenia-absent radius (TAR) syndrome with a unique type of inheritance resembling autosomal recessive inheritance.\nS. Mundlos\, Max-Planck-Institut für molekulare Genetik\, Berlin\, Germany\n10h00. Clinical and radiographic features of autosomal dominant brachyolmia.\nD.H. Cohn\, Cedars-Sinai Medical Center and David Geffen School of Medecine\, UCLA\, LA\, USA\n10h15-10h45 Break\n10h45-12h00. Vertebral segmentation\n10h45. Segmental patterning of the spine: from clocks to scoliosis.\nO. Pourquié\, Stowers Institute for Medical Research/Howard Hughes Medical Institute\, Kansas City\, Missouri\, USA\n11h45. A new classification system for congenital scoliosis and abnormal vertebral segmentation.\nP. Turnpenny\, Clinicals Genetics\, Royal Devon & Exeter Hospital\, Exeter\, UK\n12h00-12h45 Poster Session\n12h45-14h15 Lunch (Parc de Rochegude)\n14h15-16h30. Murine Models\n14h15. Growth plate characterization in TSP35/Col9 Knock-out mice.\nJ.T. Hecht\, University of Texas Health Science Center-Houston\, Houston\, TX\, USA\n14h30. Y367C mutation in mouse FGFR3 causes severe dwarfism by affecting both chondrogenesis and osteogenesis. S.Pannier\, Department of Genetics\, INSERM U781\, Hôpital Necker-Enfants-Malades\, Paris-France\n14h45. Bone phenotype in a mouse model of Diastrophic Dysplasia.\nB.Gualeni. Department of Biochemistry\, University of Pavia\, Italy\n15h00.Reduced cell proliferation and increased apoptosis are significant\npathological mechanisms in murine models of mild pseudoachondroplasia and\nmultiple epiphyseal dysplasia resulting from mutations in MATN3 and COMP.\nM. Briggs\, Wellcome Trust Centre for Cell-Matrix Research\, Faculty of Life Sciences\, University of Manchester\, UK\n15h15 Multiple roles of neurofibromin 1 in skeletal development and growth.\nS. Mundlos Max-Planck-Institut für molekulare Genetik\, Berlin\, Germany\n15h30 Defects in Filamin B produce a variety of skeletal defects.\nD. Krakow\, Medical Genetics Institute\, Cedars-Sinai Medical Center\, UCLA\, Los Angeles\, USA\n15h45 An inversion involving Sonic hedgehog (Shh) cis-regulatory enhancers is associated with malformations of the telencephalon and cranial sutures in the “Short digits” (Dsh) mouse. G. Schwabe\, Institute of Medical Genetics\, Berlin\, Germany\n16h00-16h30 break\n16h30-17h30 "Unknowns" Session\n17h30-18h30 ISDS DIAGNOSTIC COMPETITION\nEvening: Dinner Chateau de Mauriac \n***\nSaturday July 21\n8h30-10h30 Molecular Characterization\n8h30. Genotype and phenotype of Stickler syndrome caused by mutation in the COL2A1 gene. K.Hoornaert\, Center for Medical Genetics\, Ghent University Hospital\, Ghent\, Belgium.\n8h45. Genotype and phenotype correlation of POR mutations : phenotypic heterogeneity of Antley-Bixler syndrome. G. Nishimura\, Department of Radiology\, Tokyo Metropolitan Kiyose Children’s Hospital\, Japan\n9h00. SOX9\, Campomelic and Acampomelic Dysplasia : A molecular and clinical update. G. Scherer\, Institute of Human Genetics and Anthropology\, University of Freiburg\, Freiburg\, Germany\n9h15. An update on the spectrum of LEMD3 mutations in patients with osteopoikilosis\, Buschke-Ollendorff syndrome and melorheostosis.\nJ. Hellemans\, Center for Medical Genetics\, Ghent University Hospital\, Ghent\, Belgium.\n9h30. Genotype-Phenotype study in 240 MO patients.\nL. Sangiorgi\, Genetic Unit\, Rizzzoli Orthopaedic Institute. Italy\n9h45. The molecular genetics of Scheuermann disease.\nM. Irving\, Murdoch Children’s Research Institute\, Melbourne\, Australia\n10h00. Molecular analysis of CUL7 in 3M syndrome.\nC. Huber\, Department of Genetics\, INSERM U781\, Hôpital Necker-Enfants-Malades\, Paris-France\n10h15. Czech dysplasia metatarsal type : another type II collagen disorder.\nG. Mortier\, Center for Medical Genetics\, Ghent University Hospital\, Ghent\, Belgium.\n10h30-11h00 Brea (Tour de France)\n11h30-12h30 Poster Session 2\n12h30-14h00 lunch (Parc de Rochegude)\n14h00-16h15 Cellular-Molecular Characterization\n14h00. Countering excessive FGFR3 signals in achondroplasia.\nW Horton\, Shriners Hospital/ OHSU\, Portland\, USA\n14h30. Complexity of FGF signaling in chondrocytes. WR. Wilcox\, Medical Genetics Institute\, Cedars- Sinai Medical Center. Los Angeles\, USA\n14h45. Wisp1 is expressed during cartilage development. P. Kannu\, Skeletal Biology and Disease\, Murdoch Childrens Research Institute\, Melbourne. Australia\n15h00. New skeletal dysplasia candidate genes identified in a genome-scale analysis of cartilage-selective gene expression. D H Cohn\, Medical Genetics Institute\, Cedars- Sinai Medical Center\, UCLA. LA\, USA\n15h15. Consequences of chondrodysplasia-associated point mutations in collagen II at the structural and cellular level. F Zaucke\, Center for Biochemistry\, Medical faculty\, University of Cologne\, Cologne. Germany.\n15h30. Structural and functional characterisation of matrilin-3 and its implication for human chondrodysplasias. M. Fresquet\, Wellcome Trust centre for Cell-Matrix Research\, Faculty of Life Sciences\, University of Manchester\, Manchester\, UK\n15h45. High-definition imaging infrared micro-spectroscopy of cartilage in mice with normal and impaired diastrophic dysplasia sulfate transporter. E. L Mertz\, Section on Physical Biochemistry\, NICHD\, National Institutes of Health\, Bethesda \, USA\n16h00 Noggin mutations deregulate BMP signaling during limb devopment and lead to joint fusions and brachydactyly.\nP. Seemann\, Max-Planck-Institut für molekulare Genetik\, Berlin\, Germany.\n16h15-16h40 Break\n16h40-18h00 Management\n16h40. Orthopedic management of chondrodysplasias.\nG Finidori\, Service d’orthopédie infantile\, hôpital des Enfants Malades\, Paris\, France\n17h00. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia.\nD. Rimoin\, Cedars-Sinai Medical Center. Los Angeles\, CA\, USA\n17h15. The Restricted Growth Experience; Quality of Life and Barriers to Participation.\nM J Wright\, Institute of Human Genetics\, Newcastle University\, Newcastle upon Tyne\, UK\n17h30. Obstetrics and obstretical anesthesia issues in women with dwarfism.\nJ.E. Hoover-Fong\, McKusick-Nathans Institute of Genetic Medecine\, Johns Hopkins University\, Baltimore USA\n17h45. Open discussion- Guidelines : D.Rimoin \nCathedral (concert)\nToulouse Lautrec museum (visit and dinner) \n***\nSunday July 22\n9h-10h30 –Clinical Characterization\n9h00. Angulated femurs and the skeletal dysplasias. Y Alanay. Clinical Genetics Unit\, Department of Pediatrics\, Faculty of Medecine\, Hacettepe Unversity\, Ankara\, Turkey\n9h10. Cerebro-osseous-digital syndrome-Clinical and radiological phenotype with histological findings.\nCM Hall\, Department of Radiology\, Great Ormond Street Hospital for Children\, London\, UK\n9h20. Delineation of a new syndrome with syn-/oligodactyly\, urogenital malformations and anal atresia. S.Unger\, Institute for Human Genetics\, University of Freiburg\, Germany.\n9h30. Complex skeletal phenotype in a patient with a double insertional translocation between 7q and 10q and deletion of the TRPS1 gene on 8q24. R.Mendoza\, Division of Clinical and Metabolic Genetics\, Hospital for Sick Children\, Toronto\, Canada\n9h40. Adams-Oliver syndrome: clinical variability in a four-generation family.\nC. A. Bacino. Deparment of Molecular and Human Genetics\, Baylor College of Medecine\, Houston\, USA\n9h50. Foetal translucent bones associated with massive perivillous fibrin deposition in the placenta (gitterinfarct/ maternal floor infarct). P. G.J. Nikkels. Department of Pathology\, University Medical Centre Utrecht. Utrecht\, The Netherlands\n10h00. Cervical spine defects in Menkes disease\, a new finding potentially confused with evidence of child abuse. S. Hill\, Warren Grant Magnuson\, Clinical Center\, Diagnostic Radiology\, Bethesda\, USA\n10h10. Transforming the International Nosology of Constitutional disorders of Bone into a web accessible knowledge base. A. Zankl. Genetic Health Queensland\, Royal Children’s hospital\, Brisbane\, Australia.\n10h20-11h Break\n11h-12h30 NEW PERSPECTIVES / Treatment\n11h00. Growth hormone (GH) treatment of children with SHOX deficiency is effective and does not adversely affect body proportions: Two-year results of a randomized\, controlled\, multi-center trial . M. Rosilio Eli Lilly and Company\, Suresnes\, France\n11h15. Nomenclature of OI syndromes\nD Sillence Deparment of Genetics\, The Children’s Hospital at Westmead Australia\n11h30. Complications of Bisphosphonates\nG Finidori Service d’orthopédie infantile\, Hôpital des Enfants Malades\, Paris\, France\n11h40. Penicillamine therapy results in symptomatic and radiological remission in diaphyseal dysplasia. D. Sillence. Deparment of Genetics\, The Children’s Hospital at Westmead Australia\n11h50. Perindropil reduces large artery stiffness and aortic root diameter in a randomised double blind study of patients with Marfan syndrome R. Savarirayan. Genetic Health Victoria\, Murdoch Childrens Research Institute\, Melbourne\, Australia\n12H00. Maroteaux –Lamy syndrome: E. Kakis\n12h15 CONCLUSION \n12h30 Lunch (hotel d’Orleans )\n14 h30-15h00 End of the meeting
URL:https://internationalsds.org/event/isds-8th-meeting-2007/
LOCATION:Toulouse-Lautrec Museum\, Palais de la Berbie\, Pl. Sainte-Cécile\, 81000 Albi\, France
CATEGORIES:Past Biannual Meetings
ATTACH;FMTTYPE=image/jpeg:https://internationalsds.org/wp-content/uploads/2007/07/ISDS2007GroupPhoto.jpg
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