View
213
Download
0
Category
Preview:
Citation preview
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 Guadalajara, Mexico Eduardo CASTILLA Rio de Janeiro, Brasil Roberto GIUGLIANI (Chairman) Porto Alegre, Brasil Gerardo JIMENEZSANCHEZ Ciudad de Mexico, Mexico Sérgio Danilo PENA Belo Horizonte, Brasil Victor PENCHASZADEH New York, USA Francisco SALZANO 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)
PROGRAM OVERVIEW
Sunday, 15 Monday, 16 Tuesday, 17 Wednesday, 18 Thursday, 19 Friday, 20
8:3010:00 Symposium I
From Genetics to Genomics
Symposium II
Human Genomic Variability
Symposium III
Genomic Medicine
Symposium IV
Therapy for Genetic Disorders
Symposium V
Screening and Prevention
10:0010:30 Coffeebreak Coffeebreak Coffeebreak Coffeebreak Coffeebreak
10:3012:00
Symposium I (cont.)
Symposium II (cont.)
Symposium III (cont.)
Symposium IV (cont.)
Symposium V (cont.)
12:0013:00 Lunch with Lunch Lunch Box Lunch with Closing Session
13:0014:00 the Specialist Workshop the Specialist Lunch
14:0015:00
15:0016:30 Workshop 1 or 2 Workshop 1 or 2 Workshop 1 or 2
16:3017:00 Coffeebreak Coffeebreak Afternoon Tour Coffeebreak
17:0018:30 Workshop 3 or 4 Workshop 3 or 4 Workshop 3 or 4
19:0020:00 Opening
20:0021:00 Opening
Lectures Dinner Dinner at Dinner Barbecue
21:0022:00 Welcome
Coktail
Workshops Chateau Lacave
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
SUNDAY – MAY 15
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
MONDAY – MAY 16
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
TUESDAY – MAY 17
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
WEDNESDAY – MAY 18
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
THURSDAY – MAY 19
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
FRIDAY – MAY 20
Name Institution Country Email address
José ABDENUR Children’s Hospital Orange County
USA jabdenur@choc.org
José Maria CANTÚ Universidad de Guadalajara Jalisco
México jmcantu@cucs.udg.mx
Eduardo CASTILLA ECLAMC FIOCRUZ
Brasil castilla@centroin.com.br
Gerry COX Children’s Hospital, Boston Genzyme Corporation USA gerald.cox@genzyme.com
Alejandro GIRALDO Universidade Nacional de Colombia Fundación Gillow
Colómbia agiraldori@unal.edu.co
Roberto GIUGLIANI Dep. Genética – UFRGS Serv. Genét. Médica HCPA
Brazil rgiugliani@hcpa.ufrgs.br
Lewis Joel GREENE Fac. Medicina de Ribeirão Preto Universidade de São Paulo
Brazil ljgreene@fmrp.usp.br
Suzana KOFMAN Genetica Medica Universidad Autônoma do México
México skofman@servidor.unam.mx
Ursula MATTE Centro de Terapia Gênica Hospital de Clínicas de Porto Alegre
Brasil umatte@hcpa.ufrgs.br
José MINGUELL Instituto Nacional Tecnol. Alimentos Universidad de Chile
Chile jminguel@uec.inta.uchile.cl
Ieda ORIOLI Departamento de Genética Univ. Federal do Rio de Janeiro
Brasil orioli@centroin.com.br
LIST OF PARTICIPANTS FACULTY
Name Institution Country Email address
Victor PENCHASZADEH Mailman School of Public Health Columbia University
USA vbp2002@columbia.edu
Sérgio PENA Departamento de Bioquímica Univ. Fed. De Minas Gerais
Brazil spena@dcc.ufmg.br
Carlos PIROLA Instituto de Investigaciones Médicas A. Lanari
Argentina cjpirola@lanari.fmed.uba.ar
Patrícia PROLLA Progr. PósGraduação Genética & BM Univ. Fed. Rio Grande do Sul
Brazil pprolla@portoweb.com.br
Erna RAINMANN Instituto Nacional Tecnol. Alimentos Universidad de Chile
Chile eraimann@inta.cl
Francisco SALZANO Departmento de Genética Univ. Fed. Rio Grande do Sul
Brazil francisco.salzano@ufrgs.br
Jorge SEQUEIROS Instituto de Biologia Molecular e Celular, Universidade do Porto
Portugal jsequeir@ibmc.up.pt
Aline SILVA Departamento de Bioquímica – IQ Universidade de São Paulo
Brazil almdsilva@uol.com.br
Wilson SILVA Jr. Fac. Medicina de Ribeirão Preto Universidade de São Paulo
Brazil wilsonjr@usp.br
Manuel VEGA Nautilus Biotech
France mvega@nautilusbiotech.com
Michel VEKEMANS Hôpital NeckerEnfants Malades, Universidade René Descartes
France vekemans@necker.fr
Moacir WAJNER Departamento de Bioquímica Univ. Fed. Rio Grande do Sul Brazil mwajner@ufrgs.br
Marco Antônio ZAGO Fac. Medicina de Ribeirão Preto Universidade de São Paulo Brazil marazago@usp.br
Name Institution Country Email address
Roberto Giugliani Departamento de Genética – UFRGS Serviço de Genética Médica HCPA
Brasil rgiugliani@hcpa.ufrgs.br
Ursula Matte Centro de Terapia Gênica Hospital de Clínicas de Porto Alegre
Brasil umatte@hcpa.ufrgs.br
Matheus Vieira Centro de Terapia Gênica Hospital de Clínicas de Porto Alegre
Brasil vieiramatheus@hotmail.com
Ana Ayala Centro de Terapia Gênica Hospital de Clínicas de Porto Alegre
Paraguay ana_2552@yahoo.com
Maria Verónica Muñoz Rojas
Serviço de Genética Médica Hospital de Clínicas de Porto Alegre
Brasil veronicamunoz@terra.com.br
Liliane Koester Serviço de Genética Médica Hospital de Clínicas de Porto Alegre
Brasil lkoester@hcpa.ufrgs.br
LIST OF MEMBERS OF THE ORGANIZING COMMITTEE
Name Company Country Email address
Rodrigo Azambuja Genzyme Brasil rodrigo.azambuja@genzyme.com
Carlos Bertozzi Genzyme Brasil carlos.bertozzi@genzyme.com
Celso Freitas TKT Brasil cdefreitas@tktx.com
Edmundo Cardoso TKT Brasil edmundocardoso@msn.com
LIST OF SPONSORS ATTENDING
Name Institution Country Email address
Ada Rodriguez O’Donnell Universidad Peruana Cayetano Heredia Peru adarro2005@yahoo.com.ar
Afrânio Souza de Melo Universidade Estadual do Amazonas Brasil afraniomelo@click21.com.br
Alessandra Duarte Clarizia
Universidade Federal de Minas Gerais Brasil aclarizia@hotmail.com
Alexandra D. Simmons N. Instituto Venezoelano de Investigaciones Científicas Venezuela alexandra@illusionart.com
Alonso Raimundo Puga Yung Universidad del Desarrollo Chile apuga@udd.cl
Ana Luiza Villaça Coelho
Universidade Unigranrio Brasil luizavillaca@bol.com.br
Ana Maria Espinosa Garcia Hospital General de Mexico México anaesga@hotmail.com
Andréa Rita Marrero Universidade Federal do Rio Grande do Sul Brasil andreamarrero@terra.com.br
Angelina Xavier Acosta Universidade Federal da Bahia Brasil axacosta@hotmail.com
LIST OF PARTICIPANTS STUDENTS
Arianne llamos Paneque Hospital Universitário Infantil Sur Cuba allp2009@yahoo.com.mx
Bárbara Corrêa Krug Hospital Moinhos de Vento Brasil bkrug@terra.com.br
Brenda Mireya Melo Nava Instituto Mexicano de Seguridad Social México belit@brujula.net
Carlos Eduardo Coral de Oliveira Universidade Estadual de Londrina Brasil kaducoral@yahoo.com.br
Carolina Fischinger Moura de Souza Hospital de Clínicas de Porto Alegre Brasil zecarol@terra.com.br
Ciro Dresch Martinhago Universidade Estadual de São Paulo (Unesp – Botucatu) Brasil cirodm@hotmail.com
Clara Ines Vargas Castellanos Universidad Industrial de Santander Colómbia cvargas@uis.edu.co
Cláudia Márcia Benedetto de Caravalho Fonseca
Universidade Federal de Minas Gerais Brasil claudiabenedettobr@yahoo.com.br
Claudia Patricia Matos Miranda
Universidad Peruana Cayetano Heredia Peru clapa4@yahoo.com
Cristina Brinckmann Oliveira Netto Hospital de Clínicas de Porto Alegre Brasil cristina.netto@ufrgs.br
Cristina Dickie de Castilhos Centro de Triagem Neonatal Brasil ctnccdickie@hotmail.com
Cristina Figuera Pérez Instituto Venezoelano de Investigaciones Científicas Venezuela cfiguera@web.ivic.ve
Cynthia de Almeida Esteves Hospital Militar Uruguay cdeae@adinet.com.uy
Dania Guerra Iglesias Escuela de Ciencias de la Salud Venezuela guerradania@hotmail.com
Danton J. Melgar Caja Petrolera de Salud Bolivia dantonmelgar@cotas.com.bo
Edenir Palmero
Universidade Federal do Rio Grande do Sul Brasil edenirip@yahoo.com.br
Edinéia Zimmermann Universidade de Caxias do Sul Brasil ezimmerm@ucs.br
Eduardo Coelho Dias Hospital Moinhos de Vento Brasil ecoelhodias@hotmail.com
Elodia Concepción Torres de Alvarenga
Instituto de Investigaciones en Ciencias de la Salud Paraguay bibliotec@iics.una.py
Emerson de Santana Santos
Universidade de Ciências da Saúde de Alagoas Brasil vicani@uol.com.br
Emma Ibarra Costilla Instituto Mexicano del Seguro Social México eibco@prodigy.net.mx
Eugenia Mosquera Velásquez Hospital Miguel H. Alcivar Ecuador eugenia_mosquera@hotmail.com
Fabiana Kohhlrausch Universidade Federal do
Rio Grande do Sul Brasil fabianabk@yahoo.com
Fernando Adrián Poletta Estudio Colaborativo Latinoamericano Malf. Cong. Argentina fpoletta@eclamc.org
Gilberto de Lima Garcias Universidade Federal de Pelotas Brasil garcias@phoenix.ucpel.tche.br
Graciela del Rey Centro de Investigaciones Endocrinológicas Argentina gracieladelrey@cedie.org.ar
Guillermo Roberto Lay Son Rodríguez Universidad de Chile Chile glayson@ns.hospital.uchile.cl
Harvy Mauricio Velasco Parra Universidad Javeriana Colómbia hvelasco@javeriana.edu.co
Héctor Yuri Conti Wanderley Hospital de Clínicas de Porto Alegre Brasil hycw16@yahoo.com.br
Ida Vanessa Doederlein Schwartz Hospital de Clínicas de Porto Alegre Brasil ischwartz@hcpa.ufrgs.br
Igor Ivan Salvatierra Frontanilla Universidad Javeriana Colómbia isalvatierra@javeriana.edu.co
Jose A. Escalona V. Universidad Oriente Venezuela Venezuela josvina@cantv.net
José Andrés Gutiérrez Beltrán Fundación Arthur Stanley Gillow Colómbia andres93@hotmail.com
Kenia Balbi ElJaick Universidade Federal do Rio de Janeiro Brasil keniabj@yahoo.com.br
Larissa Viana Furtado Hospital das Clínicas de Faculdade de Medicina de Ribeirão Preto Brasil lvfurtado@yahoo.com.br
Lia Gonçalves Possuelo Fundação Estadual de Pesquisa e Produção em Saúde Brasil liapossuelo@terra.com.br
Luciana Cresta de Barros Dolinsky Universidade Unigranrio Brasil lcresta@unigranrio.com.br
Luisa Maria Gomes de Macedo Braga
Universidade Federal do Rio Grande do Sul Brasil lmgmb@hotmail.com
Marcela Brandoni Hospital de Agudos Presidente Perón Avellaneda Argentina marcebrandoni@yahoo.com.ar
Marcelo Aguiar Costa Lima
Universidade Federal do Rio de Janeiro Brasil marllima@biologia.ufrj.br
Márcia Schneider Centro de Triagem Neonatal Brasil marcia_cytog@hotmail.com
María Beatriz NP de Herreros
Instituto de Investigaciones en Ciencias de la Salud Paraguay mara@cmm.com.py
Maria Betânia Pereira Toralles Universidade Federal da Bahia Brasil m.toralles@uol.com.br
Maria Cristina Ramos Belardinelli
Universidade Federal do Rio Grande do Sul Brasil mcbelardinelli@terra.com.br
María Georgina Arteaga Alcaraz
Universidad Autónoma de Nuevo León México grgaa@fm.uanl.mx
María Jesús Roselli Hospital Italiano Uruguay mariroselli@hotmail.com
Mariela Larrandaburu Prieto Hospital Italiano Uruguay larranda@apolo.hc.edu.uy
Marta Elvira Ascurra de Duarte
Instituto de Investigaciones en Ciencias de la Salud Paraguay mascurra@sce.cnc.una.py
Matias Eliseo Melendez Universidade Federal do Rio Grande do Sul Argentina melendezmatias@yahoo.com.ar
Melissa Camassola Universidade Federal do Rio Grande do Sul Brasil camassola@yahoo.com.br
Melissa Vásquez Cerdas Universidad de Costa Rica Costa Rica melissav@cariari.ucr.ac.cr
Milton Quintana Sosa Universidad del Sinú Colómbia quintanaso@yahoo.com
Moisés Rubio Osornio Universidad Auntónoma de Mexico México ruom@yahoo.com
Monica Moreno Galvan CENAVECE México mmg700203@yahoo.com.mx
Nelly Dayana Suarez Medellin Fundación Arthur Stanley Gillow Colómbia dayana_sua@hotmail.com
Norma Victoria Monjagata de Ortiz
Instituto de Investigaciones en Ciencias de la Salud Paraguay caortiz@conexion.com.py
Normand García Hernández Instituto Mexicano del Seguro Social México normandgarcia@yahoo.com
Osvaldo Alfonso Pinto Artigalás Hospital de Clínicas de Porto Alegre Brasil artigalas@yahoo.com.br
Patricia Viviana Parra Veloso Hospital Clinico San Borja Arriarán Chile patriciaparra@manquehue.net
Paulo Ricardo Gazzola Zen
Fundação Federal Faculdade de Ciências Médicas de Porto Alegre Brasil paulozen@terra.com.br
Renata dos Santos Coura Hospital de Clínicas de Porto Alegre Brasil rscoura@yahoo.com
Renata Fragelli Fonseca Universidade Federal do Rio de Janeiro Brasil rfrageli@biologia.ufrj.br
Riccardo Lacchini Universidade Federal do Rio Grande do Sul Brasil lacchi_4@terra.com.br
Rita Maria Alves Universidade Federal da Bahia Brasil titamalves@uol.com.br
Roberto Muller Hospital dos Servidores Públicos de São Paulo Brasil robertomuller@uol.com.br
Rodrigo Moreno Salinas Universidad de Chile Chile rmoreno@uchile.cl
Ruth Bindeis Dubois Hospital Nacional Docente Madre Niño San Bartolome Peru rbindels@msn.com
Silvia Edelweiss Crusco dos Santos
Universidade Estadual de São Paulo (Unesp – Araçatuba) Brasil silviacrusco@terra.com.br
Sonia Margarit Peluso Universidad del Desarrollo Chile smargarit@udd.cl
Soraya Reyno Reissig Hospital Central de las Fuerzas Armadas Uruguay sorayar@adinet.com.uy
Tatiana Azevedo Bressel Univ. Federal do RGS Brasil tati@bigwall.com.br
Tatiana Pereira Gonzalez Universidade Federal do Rio Grande do Sul Brasil tatipgz@yahoo.com.br
Veronica Martinez Marignac Universidad de Toronto Canadá vmartine@utm.utoronto.ca
Víctor E. Raggio Risso Universidad de la República Uruguay vraggio@fmed.edu.uy
Violeta Ogando Pérez
Instituto Venezoelano de Investigaciones Científicas Venezuela vogando@cbb.ivic.ve
Xavier Landívar Varas Hospital Miguel H. Alcivar Ecuador xavier_landivar@hotmail.com
Yasser Ciro Sullcahuaman Allende
Universidad Peruana Cayetano Heredia Peru genetica_sa@hotmail.com
Recommended