LATIN AMERICAN SCHOOL OF HUMAN AND MEDICAL GENETICS

LATIN AMERICAN SCHOOL OF HUMAN AND MEDICAL GENETICS FIRST COURSE May 15 to 20, 2005 Samuara Hotel, Caxias do Sul, RS, Brazil SCIENTIFIC COMMITTEE José Maria CANTÚ Eduardo CASTILLA Roberto GIUGLIANI (Chairman) Gerardo JIMENEZ­SANCHEZ Sérgio Danilo PENA Victor PENCHASZADEH Francisco SALZANO Guadalajara, Mexico Rio de Janeiro, Brasil Porto Alegre, Brasil Ciudad de Mexico, Mexico Belo Horizonte, Brasil New York, USA Porto Alegre, Brasil ORGANISING COMMITTEE Roberto Giugliani (Chairman) Ursula Matte, Matheus Vieira, Ana Ayala, Veronica Munoz and Liliane Koester Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil
SPEAKERS From USA and Europe: José ABDENUR (Orange County, USA) Gerry COX (Boston, USA) Victor PENCHASZADEH (New York, USA) Jorge SEQUEIROS (Porto, Portugal) Manuel VEGA (Paris, France) Michel VEKEMANS (Paris, France) From Latin America: José Maria CANTÚ (Guadalajara, Mexico) Alejandro GIRALDO (Bogota, COLOMBIA) Suzana KOFMAN (C. Mexico, MEXICO) Jose MINGUELL (Santiago, CHILE) Carlos PIROLA (B. Aires, ARGENTINA) Erna RAINMANN (Santiago, CHILE) From Brazil: Eduardo CASTILLA (Rio de Janeiro, Brazil) Roberto GIUGLIANI (Porto Alegre, Brazil) Lewis Joel GREENE (Ribeirão Preto, Brazil) Ursula MATTE (Porto Alegre, Brazil) Ieda ORIOLI (Rio de Janeiro, Brazil) Sérgio PENA (Belo Horizonte, Brazil) Patrícia PROLLA (Porto Alegre, Brazil) Francisco SALZANO (Porto Alegre, Brazil) Aline SILVA (São Paulo, Brazil) Wilson SILVA Jr. (Ribeirão Preto, Brazil) Moacir WAJNER (Porto Alegre, Brazil) Marco Antônio ZAGO (Ribeirão Preto, Brazil)
SPONSORS SUPPORT
PROGRAM OVERVIEW Sunday, 15 8:30­10:00 Monday, 16 Symposium I From Genetics to Genomics Coffee­break 10:00­10:30 Tuesday, 17 Symposium II Human Genomic Variability Wednesday, 18 Symposium III Genomic Medicine Thursday, 19 Symposium IV Friday, 20 Symposium V Therapy for Genetic Disorders Screening and Prevention Coffee­break Coffee­break Coffee­break Coffee­break Symposium II (cont.) Symposium III (cont.) Symposium IV (cont.) Symposium V (cont.) Lunch Box Lunch with 10:30­12:00 Symposium I (cont.) 12:00­13:00 Lunch with Lunch 13:00­14:00 the Specialist Workshop the Specialist Workshop 1 or 2 Workshop 1 or 2 Workshop 1 or 2 14:00­15:00 15:00­16:30 Coffee­break 16:30­17:00 17:00­18:30 Workshop 3 or 4 19:00­20:00 Opening 20:00­21:00 Opening Lectures 21:00­22:00 Welcome Coktail Dinner Workshops Coffee­break Afternoon Tour Workshop 3 or 4 Dinner at Chateau Lacave
Coffee­break Workshop 3 or 4 Dinner Barbecue Closing Session Lunch SUNDAY – MAY 15
14:00 – 18:30 – Check­in and Registration 19:00 – 20:00 – Official opening 20:00 – 21:00 ­ Opening Lectures: From Human Genetics to Human Genomics F.M. Salzano, Porto Alegre Integrating Latin America throughout Genetics E. Castilla, Rio de Janeiro 21:00 – 22:00 ­ Welcome cocktail MONDAY – MAY 16
08:30 – 10:00 – Symposium I: From Genetics to Genomics Families, demes, and populations, family history and pedigrees E. Castilla, Rio de Janeiro Advanced technology of genomic analysis A. Silva, São Paulo 10:00 – 10:30 – Coffee­break 10:30 – 12:00 – Symposium I: From Genetics to Genomics (cont.) Molecular biology and bioinformatics for the identification of therapeutic targets W. Silva Jr., Ribeirão Preto Wolfgang Amadeus Mozart and the Human Genome S. Pena, Belo Horizonte 12:00 – 14:00 – Lunch with the Specialist 15:00 – 16:30 – Workshops 1 or 2 16:30 – 17:00 – Coffee­break 17:00 – 18:30 – Workshops 3 or 4 20:00 – 22:00 – Dinner Workshop MONDAY – MAY 16
Workshop 1. Modern tools in genomics, genetics and cytogenetics Genomic approach to cancer A. Silva, São Paulo Workshop 2. Diagnosis of metabolic diseases Diagnostic protocols for metabolic diseases R. Giugliani, P. Alegre Workshop 3. Treatment of genetic diseases Classic therapies for IEM J. Abdenur, Orange City Workshop 4. Genetic counseling in the age of genomic medicine Introduction to genetic counseling S. Pena, B. Horizonte Dinner Workshop How to report results ? (papers, oral communications and posters) LJ Greene, Ribeirão Preto TUESDAY – MAY 17
08:30 – 10:00 – Symposium II: Human Genomic Variability Evolution and structure of Latin American populations F. Salzano, Porto Alegre Use of human genomic variability on paternity testing, criminal investigation and population genetic studies S. Pena, Belo Horizonte 10:00 – 10:30 – Coffee­break 10:30 – 12:00 – Symposium II: Human Genomic Variability (cont.) Therapeutic Proteins M. Vega, Paris The complex process of development of a new drug G. Cox, Boston 12:00 – 14:00 – Lunch Workshop Future Advances on the Treatment of Genetic Disease Gerry Cox, Boston 15:00 – 16:30 – Workshops 1 or 2 16:30 – 17:00 – Coffee­break 17:00 – 18:30 – Workshops 3 or 4 TUESDAY – MAY 17
Workshop 1. Modern tools in genomics, genetics and cytogenetics Bioinformatic tools in genomic research W Silva Jr., Ribeirão. Preto Workshop 2. Diagnosis of metabolic diseases Diagnosis of metabolic diseases using tandem MS J. Abdenur, Orange City Workshop 3. Treatment of genetic diseases Enzyme therapies for lysosomal diseases R. Giugliani, Porto Alegre Workshop 4. Genetic counseling in the age of genomic medicine Genomic testing and predictive medicine in oncology P. Prolla, Porto Alegre WEDNESDAY – MAY 18
08:30 – 10:00 – Symposium III: Genomic Medicine Developmental genes and dismorphology I. Orioli, Rio de Janeiro Molecular cytogenetics M. Vekemans, Paris 10:00 – 10:30 – Coffee­break 10:30 – 12:00 – Symposium III: Genomic Medicine (cont.) Genetics and cancer M. A. Zago, Ribeirão Preto Genetics of common disorders and complex traits C. Pirola, Buenos Aires THURSDAY – MAY 19
08:30 – 10:00 Symposium IV: Therapy for Genetic Disorders Therapy for diseases of intermediate metabolism J. Abdenur, Orange County Enzyme replacement therapy E. Rainmann, Santiago 10:00 – 10:30 – Coffee­break 10:30 – 12:00 – Symposium IV: Therapy for Genetic Disorders (cont.) Organ transplantation and cell therapy J. Minguell, Santiago Gene therapy and novel therapeutic strategies U. Matte, Porto Alegre 12:00 – 14:00 – Lunch with the Specialist 15:00 – 16:30 – Workshops 1 or 2 16:30 – 17:00 – Coffee­break 17:00 – 18:30 – Workshops 3 or 4 THURSDAY – MAY 19
Workshop 1. Modern tools in genomics, genetics and cytogenetics Molecular cytogenetics M. Vekemans, Paris Workshop 2. Diagnosis of metabolic diseases Diagnosis of amino acid diseases and organic acidemias M. Wajner, Porto Alegre Workshop 3. Treatment of genetic diseases Gene therapy U. Matte, Porto Alegre Workshop 4. Genetic counseling in the age of genomic medicine Pre­symptomatic diagnosis and predictive medicine in neurogenetics J. Sequeiros, Porto FRIDAY – MAY 20
08:30 – 10:00 – Symposium V: Screening and Prevention of Genetic Disorders Prenatal and pre­implantation diagnosis A. Giraldo, Bogotá Pre­symptomatic diagnosis and predictive medicine J. Sequeiros, Porto 10:00 – 10:30 – Coffee­break 10:30 – 12:00 – Symposium V: Screening and Prevention of Genetic Disorders (cont.) Genetic counseling in the age of genomic medicine S. Kofman, C. Mexico Human Genome Project: the day after J.M. Cantu, Guadalajara 12:00 – 13:00 – Closing Lecture Ethical and social implications of the genetic revolution V. Penchaszadeh, New York LIST OF PARTICIPANTS ­ FACULTY
Name Institution Country Children’s Hospital Orange County USA José Maria CANTÚ Universidad de Guadalajara Jalisco México Eduardo CASTILLA ECLAMC FIOCRUZ Children’s Hospital, Boston Genzyme Corporation Brasil [email protected] USA [email protected] Alejandro GIRALDO Universidade Nacional de Colombia Fundación Gillow Colómbia [email protected] Roberto GIUGLIANI Dep. Genética – UFRGS Serv. Genét. Médica ­ HCPA Brazil [email protected] Lewis Joel GREENE Fac. Medicina de Ribeirão Preto Universidade de São Paulo Brazil [email protected] Genetica Medica Universidad Autônoma do México México Ursula MATTE Centro de Terapia Gênica Hospital de Clínicas de Porto Alegre Brasil [email protected] José MINGUELL Instituto Nacional Tecnol. Alimentos Universidad de Chile Chile [email protected] Departamento de Genética Univ. Federal do Rio de Janeiro Brasil [email protected] José ABDENUR Gerry COX Suzana KOFMAN Ieda ORIOLI Email address [email protected] [email protected] [email protected] Name Victor PENCHASZADEH Sérgio PENA Carlos PIROLA Institution Country Mailman School of Public Health Columbia University USA [email protected] Departamento de Bioquímica Univ. Fed. De Minas Gerais Brazil [email protected] Instituto de Investigaciones Médicas A. Lanari Email address Argentina [email protected] Patrícia PROLLA Progr. Pós­Graduação Genética & BM Univ. Fed. Rio Grande do Sul Brazil [email protected] Erna RAINMANN Instituto Nacional Tecnol. Alimentos Universidad de Chile Chile [email protected] Francisco SALZANO Departmento de Genética Univ. Fed. Rio Grande do Sul Brazil [email protected] Jorge SEQUEIROS Instituto de Biologia Molecular e Celular, Universidade do Porto Portugal Departamento de Bioquímica – IQ Universidade de São Paulo Brazil [email protected] Fac. Medicina de Ribeirão Preto Universidade de São Paulo Brazil [email protected] Nautilus Biotech France [email protected] Hôpital Necker­Enfants Malades, Universidade René Descartes Departamento de Bioquímica Univ. Fed. Rio Grande do Sul France [email protected] Aline SILVA Wilson SILVA Jr. Manuel VEGA Michel VEKEMANS Moacir WAJNER Marco Antônio ZAGO Fac. Medicina de Ribeirão Preto Universidade de São Paulo [email protected] Brazil [email protected] Brazil [email protected]
LIST OF MEMBERS OF THE ORGANIZING COMMITTEE
Name Institution Country Email address Roberto Giugliani Departamento de Genética – UFRGS Serviço de Genética Médica ­ HCPA Brasil [email protected] Ursula Matte Centro de Terapia Gênica Hospital de Clínicas de Porto Alegre Brasil [email protected] Matheus Vieira Centro de Terapia Gênica Hospital de Clínicas de Porto Alegre Brasil [email protected] Ana Ayala Centro de Terapia Gênica Hospital de Clínicas de Porto Alegre Maria Verónica Muñoz Rojas Serviço de Genética Médica Hospital de Clínicas de Porto Alegre Brasil [email protected] Liliane Koester Serviço de Genética Médica Hospital de Clínicas de Porto Alegre Brasil [email protected] Paraguay [email protected] LIST OF SPONSORS ATTENDING
Name Company Country Email address Rodrigo Azambuja Genzyme Brasil [email protected] Carlos Bertozzi Genzyme Brasil [email protected] Celso Freitas TKT Brasil [email protected] Edmundo Cardoso TKT Brasil [email protected] LIST OF PARTICIPANTS ­ STUDENTS
Name Institution Country Universidad Peruana Cayetano Heredia Peru [email protected] Afrânio Souza de Melo Universidade Estadual do Amazonas Brasil [email protected] Alessandra Duarte Clarizia Universidade Federal de Minas Gerais Brasil [email protected] Ada Rodriguez O’Donnell Email address Alexandra D. Simmons N. Instituto Venezoelano de Investigaciones Científicas Alonso Raimundo Puga Yung Universidad del Desarrollo Chile [email protected] Universidade Unigranrio Brasil [email protected] Ana Maria Espinosa Garcia Hospital General de Mexico México [email protected] Andréa Rita Marrero Universidade Federal do Rio Grande do Sul Brasil [email protected] Brasil [email protected] Ana Luiza Villaça Coelho Angelina Xavier Acosta Universidade Federal da Bahia Venezuela [email protected] Arianne llamos Paneque Hospital Universitário Infantil Sur Bárbara Corrêa Krug Hospital Moinhos de Vento Cuba Brasil [email protected] [email protected] Brenda Mireya Melo Nava Instituto Mexicano de Seguridad Social México Carlos Eduardo Coral de Oliveira Universidade Estadual de Londrina Brasil [email protected] Carolina Fischinger Moura Hospital de Clínicas de Porto Alegre de Souza Brasil [email protected] Universidade Estadual de São Paulo (Unesp – Botucatu) Brasil [email protected] Universidad Industrial de Santander Colómbia [email protected] Universidade Federal de Minas Gerais Brasil [email protected] Universidad Peruana Cayetano Heredia Peru [email protected] Hospital de Clínicas de Porto Alegre Brasil [email protected] Centro de Triagem Neonatal Brasil [email protected] Ciro Dresch Martinhago Clara Ines Vargas Castellanos Cláudia Márcia Benedetto de Caravalho Fonseca Claudia Patricia Matos Miranda Cristina Brinckmann Oliveira Netto Cristina Dickie de Castilhos Cristina Figuera Pérez Instituto Venezoelano de Investigaciones Científicas [email protected] Venezuela [email protected]
Cynthia de Almeida Esteves Dania Guerra Iglesias Hospital Militar Escuela de Ciencias de la Salud Uruguay [email protected] Venezuela [email protected] Danton J. Melgar Caja Petrolera de Salud Bolivia [email protected] Edenir Palmero Universidade Federal do Rio Grande do Sul Brasil [email protected] Brasil [email protected] Brasil [email protected] Edinéia Zimmermann Eduardo Coelho Dias Elodia Concepción Torres de Alvarenga Universidade de Caxias do Sul Hospital Moinhos de Vento Instituto de Investigaciones en Ciencias de la Salud Emerson de Santana Santos Universidade de Ciências da Saúde de Alagoas Emma Ibarra Costilla Instituto Mexicano del Seguro Social Eugenia Mosquera Velásquez Fabiana Kohhlrausch Fernando Adrián Poletta Paraguay [email protected] Brasil México Hospital Miguel H. Alcivar Ecuador Universidade Federal do Rio Grande do Sul Brasil Estudio Colaborativo Latinoamericano Malf. Cong. [email protected] [email protected] [email protected] [email protected] Argentina [email protected]
Gilberto de Lima Garcias Universidade Federal de Pelotas Graciela del Rey Centro de Investigaciones Endocrinológicas Brasil [email protected] Argentina [email protected] Guillermo Roberto Lay­ Son Rodríguez Universidad de Chile Chile Harvy Mauricio Velasco Parra Universidad Javeriana Colómbia Héctor Yuri Conti Wanderley Hospital de Clínicas de Porto Alegre Brasil [email protected] Ida Vanessa Doederlein Schwartz Hospital de Clínicas de Porto Alegre Brasil [email protected] Igor Ivan Salvatierra Frontanilla Universidad Javeriana Colómbia Jose A. Escalona V. Universidad Oriente Venezuela Venezuela Fundación Arthur Stanley Gillow Colómbia [email protected] Universidade Federal do Rio de Janeiro Brasil [email protected] Larissa Viana Furtado Hospital das Clínicas de Faculdade de Medicina de Ribeirão Preto Brasil [email protected] Lia Gonçalves Possuelo Fundação Estadual de Pesquisa e Produção em Saúde Brasil [email protected]
José Andrés Gutiérrez Beltrán Kenia Balbi El­Jaick [email protected] [email protected] [email protected] [email protected] Luciana Cresta de Barros Dolinsky Luisa Maria Gomes de Macedo Braga Marcela Brandoni Marcelo Aguiar Costa Lima Márcia Schneider Universidade Unigranrio Brasil [email protected] Universidade Federal do Rio Grande do Sul Brasil [email protected] Hospital de Agudos Presidente Perón Avellaneda Argentina Universidade Federal do Rio de Janeiro Brasil [email protected] Centro de Triagem Neonatal Brasil [email protected] [email protected] María Beatriz NP de Herreros Instituto de Investigaciones en Ciencias de la Salud Maria Betânia Pereira Toralles Universidade Federal da Bahia Brasil Maria Cristina Ramos Belardinelli Universidade Federal do Rio Grande do Sul Brasil Universidad Autónoma de Nuevo León México [email protected] María Jesús Roselli Hospital Italiano Uruguay [email protected] Mariela Larrandaburu Prieto Hospital Italiano Uruguay [email protected] María Georgina Arteaga Alcaraz Marta Elvira Ascurra de Duarte Instituto de Investigaciones en Ciencias de la Salud Paraguay [email protected] [email protected] [email protected] Paraguay [email protected]
Matias Eliseo Melendez Universidade Federal do Rio Grande do Sul Melissa Camassola Universidade Federal do Rio Grande do Sul Brasil [email protected] Universidad de Costa Rica Costa Rica [email protected] Universidad del Sinú Colómbia Universidad Auntónoma de Mexico México Melissa Vásquez Cerdas Milton Quintana Sosa Moisés Rubio Osornio Monica Moreno Galvan Nelly Dayana Suarez Medellin Norma Victoria Monjagata de Ortiz CENAVECE Fundación Arthur Stanley Gillow Instituto de Investigaciones en Ciencias de la Salud Argentina [email protected] México Colómbia [email protected] [email protected] [email protected] [email protected] Paraguay [email protected] Normand García Hernández Instituto Mexicano del Seguro Social México Osvaldo Alfonso Pinto Artigalás Hospital de Clínicas de Porto Alegre Brasil Patricia Viviana Parra Veloso Hospital Clinico San Borja Arriarán Chile Paulo Ricardo Gazzola Zen Fundação Federal Faculdade de Ciências Médicas de Porto Alegre Brasil [email protected] [email protected] [email protected] [email protected]
Renata dos Santos Coura [email protected] Hospital de Clínicas de Porto Alegre Brasil Renata Fragelli Fonseca Universidade Federal do Rio de Janeiro Brasil [email protected] Riccardo Lacchini Universidade Federal do Rio Grande do Sul Brasil [email protected] Universidade Federal da Bahia Brasil [email protected] Hospital dos Servidores Públicos de São Paulo Brasil [email protected] Universidad de Chile Chile [email protected] Hospital Nacional Docente Madre Niño San Bartolome Peru [email protected] Universidade Estadual de São Paulo (Unesp – Araçatuba) Brasil [email protected] Chile [email protected] Rita Maria Alves Roberto Muller Rodrigo Moreno Salinas Ruth Bindeis Dubois Silvia Edelweiss Crusco dos Santos Sonia Margarit Peluso Universidad del Desarrollo Soraya Reyno Reissig Hospital Central de las Fuerzas Armadas Uruguay Tatiana Azevedo Bressel Univ. Federal do RGS Brasil Tatiana Pereira Gonzalez Universidade Federal do Rio Grande do Sul Brasil [email protected] [email protected] [email protected]
Veronica Martinez Marignac Universidad de Toronto Canadá [email protected] Víctor E. Raggio Risso Universidad de la República Uruguay [email protected] Violeta Ogando Pérez Instituto Venezoelano de Investigaciones Científicas Xavier Landívar Varas Hospital Miguel H. Alcivar Ecuador Universidad Peruana Cayetano Heredia Peru Yasser Ciro Sullcahuaman Allende Venezuela [email protected] [email protected] [email protected]