EUROPEAN SCHOOL OF MEDICAL GENETICS SESTRI LEVANTE (Genoa), April 6-12 1988 PROGRAM WEDNESDAY 6 8.30-12.30: V. A. McKusick (Baltimore): History of Medical Genetics: an introduction to principles of human genetics A. M. Frischauf (London): Introduction to molecular genetics G. Romeo (Genoa): DNA polymorphisms and disease A. Cao (Cagliari) and S. Ottolenghi (Milano): Thalassemias as a model of molecular disease 15.30-17.30 J. Ott (New York): Introduction to linkage Workshop: pedigree analysis, use of computerized programs (Linkage, OnLine Mendelian Inheritance in Man, Genatlas) 18-18.30: Questions from students 18.30-20: T. Caskey (Houston): Lesch-Nyhan disease: Molecular basis, neuropathology and mouse model THURSDAY 7 8.30-12.30: Dalla Piccola (Rome): Methods of cytogenetic analysis M. Ferguson-Smith (Cambridge): From chromosomal to molecular mutations C. Junien (Paris): Molecular characterization of constitutional and acquired chromosomal rearrangements M. Rocchi (Genoa): Cytogenetic methods for physical gene mapping 15.30-17.30: Workshop on clinical cytogenetics 18-18.30: Questions from students 18.30-20: A. de la Chapelle (Helsinki), M. Ferguson-Smith (Cambridge) and others: Clinical, cytogenetic and molecular aspects of sex determination FRIDAY 8 8.30-12.30: A. Piazza (Turin), M. Berg (Oslo) and A. Bowcock (Stanford): Principles of population genetics (with particular reference to linkage disequilibrium, association, etc.) Different contributions to: Genetics and the environment 15.30-17.30: Workshop: problem solving session on population genetics 18-18.30: Questions from students 18.30-20: R. Norio (Helsinki): The Finnish disease heritage G. Romeo (Genoa): Consanguinity and disease in Italy SATURDAY 9 8.30-12.30: Session on linkage coordinated by J. Ott M. Baur (Bonn): Computerized program for haplotype reconstruction J. Mohn (Copenhagen): Some highlights of linkage studies in man K. Berg (Oslo): Linkage and clinical variation of inherited disorders V. A. McKusick (Baltimore): The human genome (status of the map) Afternoon: Boat trip to Portofino (depending on weather conditions) Evening: free SUNDAY 10 8.30-12.30: A. M. Frischauf (London): The methods of reverse genetic M. Bobrow (London): Duchenne muscular dystrophy H. H. Ropers (Nijmegen): Myotonic dystrophy G. Romeo (Genoa), J. Mohr (Copenhagen) and X. Estivill (Barcelona): Review on cystic fibrosis research 15.30-17.30: Workshop on molecular genetics (I) 18-18.30: Questions from students 18.30-20: G. Andria (Catanzaro), A. Ballabio (Neaples), and M. Ferguson-Smith (Cambridge): Molecular and clinical aspects of steroid sulphatase deficiency MONDAY 11 8.30-12.30: K. Berg (Oslo): Genetics of coronary heart disease and its risk factors G. Utermann (Innsbruck): Genes contributing to the population variance of quantitative lipoprotein traits and multifactorial hyperlipidemia G. Bianchi (Milan): Essential hypertension in man and in animal models R. B. Barber (Milan): Selection and breeding of hypertensive rats A. Sidoli (Milan): Molecular genetics of hypertension 15.30-17.30: Workshop on molecular genetics II 18-18.30: Questions from students 18.30-20: T. Caskey (Houston): Gene Therapy TUESDAY 12 8.30-12.30: Session on prenatal diagnosis coordinated by J. C. Kaplan (with contributions from A. Cao (Cagliari), P. Durand (Genoa), M. Cordone (Genoa) M. Lituania (Genoa) and M. Pembrey (London) 15.30-17.30: R. Norio (Helsinki): Use of a manual data bank as a diagnostic aid in clinical genetics Workshop: use of a computerized program for syndromology 18-18.30: Questions from students 18.30-20: G. Bernardi (Paris): The organisation of the human genome WEDNESDAY 13 Optional guided excursion to the Cinque Terre (train + walking)