Theoretical and Practical Course 3rd South and Central American Workshop on Genomics and Community Genetics. Salvador, Bahia, Brazil

Transcription

1 ICGEB International Centre for Genetic Engineering and Biotechnology Developing Knowledge 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 Recent topics in Population Genetics (Open session) Epigenetics and epigenomics Founder mutations, consanguinity, population stratification, and disease profiles in humans Alan Bittles, Murdoch University and Edith Cowan University, Perth, am Session 2 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 2.00 pm Session 3 Common and complex genetic disorders Genetics of diabetes Haemoglobinopathies: molecular biology and pathogenesis Marilda de Souza Gonçalves, UFBA and CPqGM- FIOCRUZ, Salvador, Brazil Genetic bases of common endocrine disorders 4.00 pm Session 4 Common and complex genetic disorders, cont d Liliane Dain, Centro Nacional de Genètica Médica, ANLIS, Buenos Aires, Argentina Dysmorphology, including prenatal diagnosis Disorders of reproduction Splicing mutations in disease Dafne Dain Gandelman Horovitz, Instituto Fernandes Figueira-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 MicroRNAs in cancer: biomarkers, functions and therapy Genetic counselling in cancer genetics To be announced 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, 6 x 15 minutes each 2.00 pm Session 7 The genetics of infectious diseases Genetic basis of immune responses and susceptibility to major infectious diseases Genomic epidemiology of dengue fever and Ebola Luis Barreiro, Université de Montréal, Montreal, Canada Anavaj Sakuntabhai, Institut Pasteur, Paris, France 4.00 pm Session 8 Presentations by Workshop Fellows II, 6 x 15 minutes each 2

3 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); 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 iv) 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 Session 10 Population Genetics and Biostatistics: practical approaches (cont d) 2.00 pm Session 11 Population Genetics and Biostatistics: practical approaches (cont d) Session 12 Diagnosis and surveillance of viral pathogens using small RNA sequencing technologies 5.00 pm Bus to hotel 7.00 pm Cultural show of Bahia Tuesday, 20 th October 9.00 am Session 13 Population Genetics and Biostatistics: practical approaches (cont d) v) Big data: what is its role? vi) The role(s) of disease registries am Session 14 Clinical applications of exome- and whole genome sequencing Opportunities and pitfalls in exome sequencing, Yabi: A web-based analytical environment for omics studies Predictomics: genomic prediction in clinical genomics Ken McElreavey, Institut Pasteur, Paris, France Hugo Mario Naya Monteverde, Instituto Pasteur, Montevideo, Uruguay 2.00 pm Session 15 Presentations by Workshop Fellows IV, 6 x 15 minutes each 3.30 pm Afternoon free 3

4 Wednesday, 21 st October 9.00 am Session 16 Rare diseases: Caring for the Community (Open symposium) Topics and Contributors to include: Why are rare diseases so prevalent? Rare diseases in migrant communities: the UK experience Community involvement in the prevention Rio of genetic disease Angelina Acosta, Universidade Federal da Bahia, Salvador, Brazil and Alan Bittles, Murdoch University and Edith Cowan University, Perth, Peter Corry, Born in Bradford Project, Bradford, UK Lavínia Schuler-Faccini, Universidade Federal do Grande do Sul, Porto Alegre, Brazil am Session 17 Rare diseases: Caring for the Community contd. Presentations by Workshop Fellows IV, 5 x 15 minutes each Screening programmes for inherited diseases of Roberto Giugliani, UFRGS, Porto Alegre, Brazil high local/regional/community prevalence Rare diseases affecting intellectual capacity Rare diseases and orphan drugs 2.00pm Session 18 Rare diseases: Caring for the Community contd Peter Corry, Born in Bradford Project, Bradford, UK Paul Derbyshire, Orphix Consulting, Munich, Germany Ethical issues influencing and affecting rare diseases Orphan drug development future perspectives Rare Disease Registries: bioinformatics and translational challenges for improved patient health outcomes Dafne Dain Gandelman Horovitz, Instituto Fernandes Figueira-FIOCRUZ, Rio de Janeiro, Brazil Paul Derbyshire, Orphix Consulting, Munich, Germany 4.00 pm Session 19 Rare diseases: Caring for the Community contd Round table discussion: Genetic counselling and education programmes for rare diseases in lowincome and multi-ethnic societies Contributors to include: Angelina Acosta, Peter Corry, Lilian Dain, Paul Derbyshire, Victor Evangelista de Faria Ferraz, Dafne Dain Gandelman Horovitz, Patricia Prolla, Anavaj Sakuntabhai 4

5 Thursday, 22nd October 9.00 am Session 20 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 Dalila Lucíola Zanette, Fundação Oswaldo Cruz, Salvador, Brazil Victor Evangelista de Faria Ferraz, Universidade de São Paulo, Ribeirão Preto, Brazil am Session 21 Presentations by Workshop Fellows V, 6 x 15 minutes each 2.00 pm Preparation of Workshop questionnaires 4.00 pm Preparation of Workshop questionnaires, contd 5.00 pm Bus to hotel 7.00 pm Workshop Dinner Friday, 23rd October 9.00 am Session 22 Looking to the future Keynote addresses: Anu Bashamboo, Institut Pasteur, Paris, France am Session 23 From the past to the future in Community Genetics: mapping generational changes pm Completion and collection of Workshop Questionnaires Contributors to include: Alan Bittles, Dafne Dain Gandelman Horovitz, Lavínia Schuler-Faccini pm Summing-up Angelina Acosta, Anu Bashamboo, Alan Bittles, Ken McElreavey pm Close of Workshop 5