| Course | The course is a post graduate level program directed to clinicians, either geneticists or paediatricians or neonatologists.
The course should provide the basics of developmental biology as well as an introduction into congenital developmental defects, evaluation techniques, character and etiology of dysmorphism and dysmorphic patterns in order to enable clinical geneticists to better evaluate and interpret them.
Some of the topics covered in the present edition are: Developmental Biology (Limb, Neural crest, Neural tube, Bone), Clinical Dysmorphology (Developmental pathology and genetic heterogeneity, Genotypes and phenotypes, Determination of dysmorphic features and use of measurements, Use of databases for diagnosis, Congenital developmental defects, Vascular disruption defects, Teratology and teratogenicity, etc.) |
| Directors | A. Schinzel (Zuerich, Switzerland), R. Ravazzolo (Genoa, Italy), L. Biesecker (Bethesda, USA), J. Graham (Los Angeles, USA) |
| Speakers | G. Andria (Naples, ITALY), L. Biesecker (Bethesda, U.S.A.), J.F. Brunet (Paris, FRANCE), P. Castagnola (Genoa, ITALY), A. Copp (London, UK), H. Etchevers (Toulouse, FRANCE), J. Graham (Los Angeles, U.S.A.), B. Hamel (Nijmegen , THE NETHERLANDS), L. Holmes (Boston, U.S.A.), L. Lettice (Edinburgh, UK), S. Lyonnet (Paris, FRANCE), C. Missero (Naples, Italy), D. Niedrist (Zuerich, SWITZERLAND), R. Ravazzolo (Genoa, ITALY), M. Riminucci (Rome, Italy), B. Robert (Paris, FRANCE), A. Schinzel (Zuerich, SWITZERLAND), A. Villa (Milan, ITALY) |
| Programme |
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Sunday, May 11 – Arrival at the University Residential Centre in Bertinoro
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Monday, May 12th
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Morning Session: LIMB
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09.00-09.15
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R. Ravazzolo
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Introduction
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09.15-10.00
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B. Robert
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The BMP pathway and limb development
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10.00-10.30
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L. Lettice
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SHH signalling in limb developent
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10.30-11.00
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Coffee Break
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11.00-12.00
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C. Missero
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p63 as a crucial regulator of limb and skin development
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12.00-13.00
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B. Hamel
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Limb birth defects
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13.00-14.30
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Lunch Break
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Afternoon Session: BONE
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14.30-15.15
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P. Castagnola
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Essential pathways in bone development
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15.15-16.00
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A. Villa
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Bone remodelling and Osteopetrosis
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16.00-16.30
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Coffee Break
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16.30-17.15
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M. Riminucci
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Mesenchymal stem cells in bone development
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17.15-18.00
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R. Ravazzolo
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Mechanisms of heterotopic ossification
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Tuesday, May 13th
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Morning Session: NEURAL CREST – NEURAL TUBE
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09.00-09.45
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H. Etchevers
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Neural crest derived tissues
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09.45-10.30
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J. F. Brunet
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Neural crest and autonomous nervous system
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10.30-11.00
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Coffee Break
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11.00-11.45
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S. Lyonnet
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Neurocristopathies
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11.45-12.30
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A. Copp
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Neural tube closure, normal and abnormal
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13.00-14.30
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Lunch Break
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Afternoon session
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14.30-15.15
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A. Schinzel
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What dysmorphic features can tell us about early developmental pathology
Genetic heterogeneity
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15.15-16.00
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L. Biesecker
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The development and uses of a new standardized terminology for the evaluation of dysmorphic patients
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16.00-16.30
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Coffee Break
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16.30-17.00
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D. Niedrist
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Determination of dysmorphic features: The use of measurements
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17.00-17.45
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A. Schinzel
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Twinning and congenital developmental defects
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17.45-18.30
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L. Biesecker
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Understanding the relationship of genotypes to phenotypes
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Wednesday, May 14th
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Morning Session
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09.00-09.45
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J. Graham
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Classification of congenital developmental defects; dysmorphic and deformative patterns of the skull
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09.45-10.30
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L. Holmes
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Limb dysmorphology
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10.30-11.00
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Coffee Break
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11.00-11.45
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G. Andria
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Maternal metabolic pathology as a cause of teratogenic effects
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11.45-12.30
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J. Graham
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Teratogenicity of maternal diabetes/obesity
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12.30-13.00
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B. Hamel
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Neural tube defects: Clinical and genetic aspects
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13.00-14.30
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Lunch Break
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Afternoon Session
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Excursion
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20.30- Student presentations
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Thursday, May 15th
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Morning Session
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09.00-09.45
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L. Holmes
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Principles of teratology
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9.45-10.30
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J. Graham
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Teratogenicity of alcohol
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10.30-11.00
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Coffee Break
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11.00-11.30
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L. Holmes
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Teratogenicity of anticonvulsants
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11.30-12.15
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J. Graham
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Disruptions and disruptive patterns
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12.15-13.00
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L. Holmes
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Vascular disruption defects caused by chorionic villus sampling and misoprostol
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13.00-14.30
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Lunch
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14.30-15.15
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J. Graham
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Teratogenicity of retinoids, methotrexate
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15.15-16.00
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J. Graham
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Teratogenicity of antidepressants, cigarettes
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16.00-16.30
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Coffee Break
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16.30-17.00
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L. Biesecker
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Risk assessment in recognized and unrecognized disorders
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17.00-18.00
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A. Schinzel
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The use of databases for the diagnosis of pattern of congenital developmental defects
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18.00-18.30
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Students
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Test
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Friday, May 16 –Departure
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