LATIN AMERICAN SCHOOL
OF HUMAN
AND MEDICAL GENETICS
LATIN AMERICAN SCHOOL OF HUMAN
AND MEDICAL GENETICS
NINETH COURSE
May 5 to 11, 2013
Samuara Hotel, Caxias do Sul, RS, Brazil
HEADQUARTERS:
Gene Therapy Center
Hospital de Clinicas de Porto Alegre
Rua Ramiro Barcelos 2350
90035-903 - Porto Alegre – RS - Brazil
Tel + 55 51 3359 8838
Fax + 55 51 3359 8010
elag@igpt.org.br
URL
www.igpt.org.br
ORGANIZING COMMITTEE
Roberto Giugliani
(Chairperson)
Ursula Matte
(Deputy Chairperson)
Carolina Uribe
(Organizing Assistant)
Filippo Vairo (Organizing Assistant)
Guilherme Baldo
(Organizing Assistant)
Priscila Correa
(Secretary)
SCIENTIFIC COMMITTEE
Eduardo CASTILLA
Rio de Janeiro, Brazil
Roberto GIUGLIANI (Chair)
Porto Alegre, Brazil
Ursula MATTE
Porto Alegre, Brazil
Victor PENCHASZADEH
Buenos Aires, Argentina
Augusto ROJAS-MARTINEZ
Monterrey, Mexico
Francisco SALZANO
Porto Alegre, Brazil
Aida FALCON
Caracas, Venezuela
FACULTY LIST:
1. Patricia ASHTON-PROLLA (Porto Alegre, Brazil)
2. Eduardo CASTILLA (Rio de Janeiro, Brazil)
3. Roberto COCO (Buenos Aires, Argentina)
4. Michael COHEN (Halifax, Canada)
5. Alberto Santiago CORNIER (San Juan, Puerto Rico)
6. Aida FALCON de Vargas (Caracas, Venezuela)
7. Juan GILI (Buenos Aires, Argentina)
8. Roberto GIUGLIANI (Porto Alegre, Brazil)
9. Laura JARDIM (Porto Alegre, Brazil)
10. Hugo KUPRITZKI (Buenos Aires, Argentina)
11. Pablo LAPUNZINA (Madrid, Spain)
12. Rafael LINDEN (Rio de Janeiro, Brazil)
13. Iscia LOPES-CENDES (São Paulo, Brazil)
14. Jorge LOPEZ-CAMELO (La Plata, Argentina)
15. Ursula MATTE (Porto Alegre, Brazil)
16. Carlos Frederico MENCK (São Paulo, Brazil)
17. Rocio ORTIZ-LOPEZ (Monterrey, Mexico)
18. Esteban PARRA (Toronto, Canada)
19. Victor PENCHASZADEH (Buenos Aires, Argentina)
20. Fernando POLETTA (Buenos Aires, Argentina)
21. Ramiro RAMIREZ-SOLIS (London, UK)
22. Augusto ROJAS-MARTINEZ (Monterrey, Mexico)
23. Francisco SALZANO (Porto Alegre, Brazil)
IX Course – Latin American School of Human and Medical Genetics – May 5 – 11, 2013
Samuara Hotel, Caxias do Sul, Brazil
Sunday Monday Tuesday Wednesday Thursday Friday Saturday
Arrivals and Transfer to Hotel (18:00) Welcome Drinks (19:00) Opening session Introduction R.Giugliani & U.Matte (20:00) Opening lecture (M.M. Cohen) followed by dinner
Symp. 1: From Genetics to Genomics Coord:A Rojas-Martinez Symp 2: Population Genetics Coord: FM Salzano Symp 3: Genomic Medicine Coord: E Castilla
Symp 4: Genetic Tools for the Treatment of
Diseases
Coord: U Matte
Symp 5: Genetics and Public Health
Coord: A Cornier
Farewell and Departures Transfer to Airport
08:30 Biology and Culture - A Dialectic Relationship
F Salzano Genome-wide Studies in Admixed Populations: Challenges and Opportunities E Parra
The Child with Multiple Birth Defects MM Cohen Animal Models R Ramirez-Solis Gene Therapy R Linden Neurogenetics L Jardim
10:00 Coffee break Coffee break
Official ELAG Picture
Coffee break (10:30-11:00)
Coffee break Coffee break 10:30 The new world of RNAs
I Lopes-Cendes
Brazilian Census of Isolated Populations (CeNIso)
E Castilla
Molecular approach to clinical genetics and
cytogenetics
P Lapunzina
Emerging Therapies for Lysosomal Diseases
R Giugliani
Delivery of Genetic Services in the Health
System
V Penchaszadeh
Genetics and Mutagenesis
CF Menck
Genetics and Genomics in Latin America Today
A Falcon
Reproductive Genetics
R Coco
Genetic Approaches for the Treatment of Cancer
R Ortiz-Lopez
Predictive Medicine
J Sequeiros
12:30 LUNCH LUNCH LUNCH(13:00) LUNCH LUNCH
14:00
Short courses 1- 2 Short courses 1- 2
(14:00) Afternoon
Tour
(19:00) Dinner
Short courses 1- 2 Workshop 2 Clinical Cases 15:45 Coffee break Coffee break Coffee break Coffee break
(15:30h) 16:15
Short courses 3-4 Short courses 3-4 Short courses 3-4
Workshop 3 From ideas to products 18:00 Happy Hour with
Poster Session Workshop 1 Next Generation Sequencing (Part A) Workshop 1 Next Generation Sequencing (Part B) (18:30) ELAG Soccer Game
20:00 Dinner with Multicultural Evening Dinner followed by Debate about Exome Sequencing
Name Institution Country E-mail address
Patrícia ASHTON-PROLLA Universidade Federal do Rio Grande do Sul e Hospital de Clinicas de Porto Alegre Brazil pprolla@gmail.com
Eduardo CASTILLA Fundação Instituto Osvaldo Cruz Brazil castilla@centroin.com.br
Roberto COCO Fecunditas Argentina robertococo@fecunditas.com.ar
Michael COHEN Dalhousie University Canada mmichael.cohenjr@gmail.com
Alberto Santiago CORNIER University of Puerto Rico Puerto Rico scornier@psm.edu
Aída FALCÓN Universidad Central de Venezuela Venezuela aidafalvar@gmail.com
Juan GILI Centro de Educación Médica e Investigaciones Clínicas Argentina jagili79@gmail.com
Roberto GIUGLIANI Universidade Federal do Rio Grande do Sul e Hospital de Clinicas de Porto Alegre Brazil rgiugliani@hcpa.ufrgs.br
Laura JARDIM Universidade Federal do Rio Grande do Sul e Hospital de Clinicas de Porto Alegre Brazil ljardim@hcpa.ufrgs.br
Hugo KUPRITZKI Centro de Educación Médica e Investigaciones Clínicas Argentina hkrupi@yahoo.com.ar
Pablo LAPUNZINA Hospital Universitario La Paz Spain plapunzina.hulp@salud.madrid.org
Rafael LINDEN Universidade Federal do Rio de Janeiro Brazil rlinden@biof.ufrj.br
Iscia LOPES-CENDES Universidade de Campinas Brazil icendes@unicamp.br
Jorge LOPEZ-CAMELO Centro de Educación Médica e Investigaciones Clínicas Argentina jslc@eclamc.org
Ursula MATTE Hospital de Clinicas de Porto Alegre Brazil umatte@hcpa.ufrgs.br
Carlos Frederico MENCK Universidade de São Paulo Brazil cfmmenck@usp.br
Rocio ORTIZ-LOPEZ Universidad Autónoma de Nuevo León Mexico rortizlopez@gmail.com
Esteban PARRA University of Toronto at Mississauga Canada esteban.parra@utoronto.ca
Victor PENCHAZSADEH Departmento de Ciencias de la Salud, Universidad Nacional de La Matanza, Bs. As. Argentina victorpenchas@gmail.com
Fernando POLETTA Estúdio Colaboractivo Latino Americano de Malformaciones Congénitas Argentina fpoletta@eclamc.org
Ramiro RAMIREZ-SOLIS Sanger Institute United Kingdom rrs@sanger.ac.uk
Augusto ROJAS-MARTINEZ Universidad Autonoma de Nuevo León Mexico arojas@fm.uanl.mx
Francisco SALZANO Universidade Federal do Rio Grande do Sul Brazil francisco.salzano@ufrgs.br
Jorge SEQUEIROS Universidade do Porto Portugal jsequeir@ibmc.up.pt
Fernando VARGAS Universidade Federal do Rio de Janeiro e Instituto Nacional do Câncer Brazil fvargas@inca.gov.br
Name Institution Country E-mail address
Andrea Puppio GeneDx Argentina andreapuppio@gmail.com
Andrea Avendaño Universidad de los Andes Venezuela andrea.avendano1007@gmail.com
Angela Milena Martin Rios Universidad Nacional de Colombia Colombia ammartinr@unal.edu.co
Arianne LLamos Paneque Hospital Pediátrico Universitario Pedro Borras Astorga Cuba aripa@infomed.sld.cu
Camila Albuquerque Universidade Federal do Pará Brasil inagakica@gmail.com
Camila Ive Ferreira Oliveira Universidade Estadual de São Paulo - UNESP Brasil camilaiveoliveira@hotmail.com
Camila Melo Universidad de Chile Chile e.camila.melo@gmail.com
Carlos De La Torre-Hernandez National Centre for Medical Genetics, Venezuela Venezuela dr.delatorre@gmail.com
Carolina Cortés Urrea Universidad del Valle Colombia carolina.cortes@correounivalle.edu.co
Carolina Crespo Hospital de Pediatría Argentina carolinacrespobioquimica@gmail.com
Carolina Isabel Pestana Pereira Universidad Simón Bolívar Venezuela pestanacarolina@yahoo.com
Cristel Chapel Crespo University Pediatric Hospital Puerto Rico cristelchapel@gmail.com
Cristina Martin Hospital Provincial de Pdiatria Misiones Argentina mcristinamartin@yahoo.com.ar
Daiana Beatriz Leonardi IQUIBICEN-CONICET Argentina daialeonardi@hotmail.com
Diana Elizabeth Rojas Málaga Universidad San Martín de Porres Peru diana.rojas.malaga@gmail.com
Diego Ojeda Universidad Antonio Nariño Colombia d.ojeda.msc@gmail.com
Diego Paskulin Universidade Federal do Rio Grande do Sul Brasil diegopaskulin@gmail.com
Eduardo Mattos Universidade Federal do Rio Grande do Sul Brasil emattos@hcpa.ufrgs.br
Elaine Lustosa Mendes Universidade Estadual de Campinas - UNICAMP Brasil laine_med@yahoo.com.br
Evelise Brizola Universidade Federal do Rio Grande do Sul Brasil evelisebrizola@hotmail.com
Fabiana Moura Costa Motta Universidade de Pelotas Brasil fabianammcosta1@hotmail.com
Fernanda Bender Hospital de Clínicas de Porto Alegre Brasil bender.fernanda@gmail.com
Francine Campagnari Universidade de São Paulo - USP Brasil francamp@hotmail.com
Gabriel Macedo Universidade Federal do Rio Grande do Sul Brasil gmacedoufrgs@gmail.com
Gerardo Mejia Hospital Infantil Manuel de Jesús Rivera Nicaragua mejiabaltodano@gmail.com
Gissella Esmeralda Noroña Camargo Instituto Nacional de Enfermedades Neoplasicas Peru gissellan@hotmail.com
Hector Herrera Reynoso Universidad Nacional Federico Villarreal: HNGAI Peru herrerahh7@yahoo.es
Isabela Diniz Universidade Federal do Pará Brasil isabelagdiniz@gmail.com
Isabela Mayá Wayhs Silva Pontifícia Universidade Católica do Paraná - PUCPR Brasil belamws@hotmail.com
Jesus Morlett Universidad Autonoma de Coahuila Mexico morlett17@gmail.com
Joanna Meira Universidade de São Paulo - USP Brasil joannagcm@gmail.com
João Neri Centro de Reabilitação Infantil Brasil jineri@uol.com.br
Jorge Armando Rojas Martínez Pontificia Universidad Javeriana Colombia jorgerojas.martinez@gmail.com
Juan Javier Lopez Rivera Clinica Universitaria Colombia Colombia jlopez734@yahoo.es
Julio Montoya Universidad del Valle Colombia julio.montoya@correounivalle.edu.co
Karen Souza Hospital de Clínicas de Porto Alegre Brasil karen_regininha@yahoo.com.br
Karina Donis Hospital de Clínicas de Porto Alegre Brasil karinacdonis@gmail.com
Karina Silveira Universidade Estadual de Campinas - UNICAMP Brasil karinasilveiracg@hotmail.com
Karyn Koladicz Hospital de Clínicas de Porto Alegre Brasil karynjordao@gmail.com
Larissa Guimarães Universidade de São Paulo - USP Brasil larissaguimaraes@usp.br
Laura del Pilar Rico Landazábal Universidad del Rosario Colombia laura.rico@urosario.edu.co
Laura Simon Hospital de Clínicas de Porto Alegre Brasil laurasimon11@gmail.com
Leila Cardoso Instituto Nacional de Câncer Brasil leila.cardoso@inca.gov.br
Liana Oliveira Universidade Federal do Paraná Brasil liana_oliveira2@yahoo.com.br
Liliana Morales Perez University Pediatric Hospital Puerto Rico EUA morales_lily@hotmail.com
Lorena Santa María INTA - Universidad de Chile Chile lsantamaria@inta.cl
Marcelo Vital Coppa Universidad de la República Uruguai mvital@fq.edu.uy
Maria Cecilia Martin Argentine National Center of Medical Genetics Argentina maria_cecilia_martin@yahoo.com.ar
María Celeste Michia CEMIC Argentina celestemichia@gmail.com
Maria Fernanda Bangueses Penino Instituto Pasteur Montevideo Uruguai fernandabangueses@gmail.com
María José González Universidad de Oriente Venezuela marina1azul@hotmail.com
Maria Noelia Carabelos National University of Misiones Argentina mnoeliacarabelos@gmail.com
Mariana Botton Universidade Federal do Rio Grande do Sul Brasil marirb@gmail.com
Mariela Paola Teresita Vilte Hospital Dr Arturo Oñativia Argentina paolavilte@yahoo.com
Marina Laura García De Rosa Hospital Garrahan Argentina laura_1998@hotmail.com
Marisol Ibarra Ramírez Universidad Autónoma de Nuevo León Mexico mibarra_25@hotmail.com
Martha Bravo-Urquiola Universidad Central de Venezuela Venezuela martharbravo@hotmail.com
Michael Alexander Vallejo Urrego Universidad Nacional de Colombia Colombia michael00vallejo@gmail.com
Miriam Cecilia Espin Viscarra SOLCA-QUITO Equador miri.espin@hotmail.com
Nidiane Carla Martinelli Universidade Federal do Rio Grande do Sul Brasil ncmartinelli@gmail.com
Pablo Germán Kalfayan CEMIC Argentina pkalfayan@hotmail.com
Patricia Camacho Ovando Universidade Federal de São Paulo - Unifesp Brasil patricia_ccamacho@yahoo.com.br
Pedro Vargas Pinilla Universidade Federal do Rio Grande do Sul Brasil va.pedro@gmail.com
Raissa Andrade Instituto Nacional de Cancer Brasil raissac_andrade@yahoo.com.br
Rosenelle Araujo Secretaria de Estado de Saúde - SES/DF Brasil rosenelle.araujo@gmail.com
Sergio Castañeda Universidad del Rosario Colombia sergio2789@hotmail.com
Silvia Albanez Queen's University Canada silvia.albanez@gmail.com
Silvia Carbognani Municipalidad de Rosario Argentina silviacarbognani@arnet.com.ar
Soledad Andersen Centro Nacional de Genetica Medica Argentina sol.andersen@gmail.com
Soraia Poloni Universidade Federal do Rio Grande do Sul Brasil soraiapoloni@yahoo.com.br
Swuanny Villagran INVEGEM Guatemala villaswua29@gmail.com
Tania Catalina Vásquez Instituto Nacional de Salud Peru taniavasquezloarte@gmail.com
Tássia Tonon Universidade Federal do Rio Grande do Sul Brasil tassia.tonon@hotmail.com
Thatiane Yoshie Kanazawa Universidade Estadual de Campinas - UNICAMP Brasil tykanazawa@hotmail.com
Úrsula Urias Universidade de São Paulo - USP Brasil uurias@usp.br
Yuliana Guevara Instituto de Estudios Avanzados - IDEA Venezuela guevarayuliana@gmail.com
Name Institution Country E-mail address