Salvador, Bahia, Brazil October 2015 PROGRAMME am Welcome to Salvador Rector, Universidade Federal da Bahia and Director of FIOCRUZ

Transcription

1 International Centre for Genetic ICGEBEngineering and Biotechnology Theoretical and Practical Course 3rd South and Central American Workshop on Genomics and Community Genetics Salvador, Bahia, Brazil October 2015 PROGRAMME Friday, 16 th October 4.00 pm Workshop Registration 7.00 pm Welcome Reception Saturday, 17 th October 8.00 am Pick- up from hotel 8.30 am Welcome to Salvador Rector, Universidade Federal da Bahia and Director of FIOCRUZ 9.00 am Introduction to the Workshop: Angelina Acosta, Diana Baralle, Anu Bashamboo, Aims and intended goals Alan Bittles, Ken McElreavey 9.30 am Session 1 Population genetic structure (Open session) Human genome variation Population stratification and disease profiles in humans Alan Bittles, Murdoch University, Perth, am Session 2 Rare diseases and other single gene disorders Cellular modelling of rare diseases Lysosomal storage disorders Malformation syndromes Anu Bashamboo, Institut Pasteur, Paris, France Roberto Giugliani, UFRGS, Porto Alegre, Brazil Diana Baralle, University of Southampton, Southampton, UK 2.00 pm Session 3 Common and complex genetic disorders Epigenetics and human disease Philip Avner, EMBL, Rome, Italy Haemoglobinopathies: molecular biology and pathogenesis Marilda de Souza Gonçalves, UFBA and CPqGM- 1

2 Genetic bases of common endocrine disorders FIOCRUZ, Salvador, Brazil Liliane Dain, Centro Nacional de Genètica Médica, ANLIS, Buenos Aires, Argentina 4.00 pm Session 4 Common and complex genetic disorders, cont d Dysmorphology, prenatal diagnosis Inherited disorders of reproduction Splicing mutations in disease Dafne Dain Gandelman Horovitz, Instituto Fernandes, Figueiras- FIOCRUZ, Rio de Janeiro, Brazil Ken McElreavey, Institut Pasteur, Paris, France Diana Baralle, University of Southampton, Southampton, UK Sunday, 18 th October 9.00 am Session 5 The genetics of cancer Oncogenetics: an overview MicroRNA and cancer Genetic counselling in cancer genetics Patrícia Asthon Prolla, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil Victor Evangelista de Faria Ferraz, Universidade de São Paulo, Ribeirão Preto, Brazil Wilson Araujo da Silva Junior, Universidade de São Paulo, Ribeirão Preto, Brazil am Session 6 Presentations by Workshop Fellows I, 5 x 15 minutes each 2.00 pm Session 7 The genetics of infectious diseases Genetic susceptibility to major infectious diseases Genomic epidemiology of malaria and dengue fever Genetic basis of immune responses Anavaj Sakuntabhai, Institut Pasteur, Paris, France Luis Barreiro, Université de Montréal, Montreal, Canada 4.00 pm Session 8 Presentations by Workshop Fellows II, 5 x 15 minutes each Monday, 19th October 9.00 am Session 9 Population Genetics and Biostatistics: practical approaches Topics to include: i) Introduction to human genetics on the internet and basic biostatistics for geneticists ii) Genome and population data analysis: introduction to population structure and differentiation, migration inference and genetic distance matrix (ARLEQUIN software and others) iii) Linkage analysis including - parametric methods (two- point and multipoint analysis); 2

3 iv) allele- sharing (nonparametric) methods for sib- pairs and extended families (two- point and multipoint analysis), fine mapping, linkage admixture, association studies (trios and case- control, sample size estimation (extended families - simulation studies), sib- pairs and case- control data) and estimating empirical p- values Introduction to GENEHUNTER/ALLEGRO and LINKAGE/FASTLINK software Contributing Faculty will include: Luis Barreiro, Université de Montréal, Montreal, Canada Hugo Mario Naya Monteverde, Instituto Pasteur, Montevideo, Uruguay Anavaj Sakuntabhai, Institut Pasteur, Paris, France 2.00 pm Session 10 Population Genetics and Biostatistics: practical approaches (cont d) 5.00 pm Session 10 concludes 5.15 pm Bus to hotel 7.00 pm Cultural show of Bahia Tuesday, 20 th October 9.00 am Session 11 Exome- and whole genome sequencing Functional and evolutionary genomics Ken McElreavey, Institut Pasteur, Paris, France Hugo Mario Naya Monteverde, Instituto Pasteur, Montevideo, Uruguay am Session 12 Presentations by Workshop Fellows III, 5 x 15 minutes each 2.00 pm Afternoon free Wednesday, 21 st October 9.00 am Session 13 Prenatal genetic disorders and their diagnosis Topics and Contributors to be announced am Session 14 Presentations by Workshop Fellows IV, 5 x 15 minutes each 2.00 pm Session 15 Rare Diseases, Caring for the Community (Open symposium) Topics and Contributors to include: Why are rare diseases so prevalent? Angelina Acosta, Universidade Federal da Bahia, 3

4 Community involvement in the prevention of genetic disease Screening programmes for inherited diseases of high local/regional/community prevalence Ethical issues influencing and affecting rare diseases Round table discussion: Genetic counselling and education programmes for rare diseases in low income and multi- ethnic societies Salvador, Brazil and Alan Bittles, Murdoch University, Perth, Lavínia Schuler- Faccini, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil Roberto Giugliani, UFRGS, Porto Alegre, Brazil Patricia Asthon Prolla, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil Contributors to include: Angelina Acosta, Lilian Dain, Victor Evangelista de Faria Ferraz, Dafne Dain Gandelman Horovitz, Patricia Prolla, Anavaj Sakuntabhai Thursday, 22nd October 9.00 am Session 16 Bioinformatics and disease registries Bioinformatics, DNA sequence analysis (HTLV) Bioinformatics Creation and establishment of disease registries: 0phthalmogenetics Luiz Carlos Júnior Alcântara, CPqGM- FIOCRUZ, Salvador, Brazil Dalilia Lucíola Zanette, Fundação Oswaldo Cruz, Salvador, Brazil Victor Evangelista de Faria Ferraz, Universidade de São Paulo, Ribeirão Preto, Brazil am Session 17 Presentations by Workshop Fellows V, 5 x 15 minutes each 2.00 pm Session 18 Presentations by Workshop Fellows VI, 5 x 15 minutes each 4.00 pm Preparation of Workshop questionnaires 5.00 pm Bus to hotel 7.00 pm Workshop Dinner Friday, 23rd October 9.00 am Session 19 Looking to the future Keynote addresses: Philip Avner, EMBL, Rome, Italy Anu Bashamboo, Institut Pasteur, Paris, France Roberto Guiliani, UFRGS, Porto Alegre, Brazil am Session 20 From the past to the future in Community Genetics: mapping generational changes Contributors to include: Diana Baralle, Dafne Dain Gandelman Horovitz, Lavínia Schuler- Faccini 4

5 12.00 pm Completion and collection of Workshop Questionnaires pm Summing- up Angelina Acosta, Diana Baralle, Anu Bashamboo, Alan Bittles, Ken McElreavey pm Close of Workshop 5