Workshops
| Tuesday 22 May 2007 15:00 - 17:00 | 1. Functional Variation |
| Room 520 | Chair/Co-Chairs: Emmanouil Dermitzakis (UK), Brenda Andrews (Canada) |
| Patrick Beaulieu | An ENSEMBL/BIOMART - based environment for the analysis of regulatory regions functional assays |
| Daniel C Koboldt | Identification of functional SNPs in noncoding regions of the human genome |
| Doron Lancet | Variability modes of human olfactory receptors: inactive alleles and prevalent copy number variation |
| Elin Grundberg | Population variability of induced gene expression: an approach for functional variant discovery in human primary cells |
| Joëlle Dionne | Functional impact of regulatory polymorphisms (rSNP) in G1/S cell cycle checkpoint genes |
| JM Samuel | Novel Regulatory Regions in the Interleukin 6 Gene and Implications for Disease/Gene Association Studies |
| MM Ghahramani Seno | PTCHD3 gene: a copy number variable gene in humans |
| Aabida Saferali | Lack of correlation between DNA methylation of promoter regions and allelic imbalance in expression of non-imprinted genes in lymphoblastoid cell lines |
| 2. Cancer Genomics | |
| Room 519 | Chair/Co-Chairs: Hiroyuki Aburatani (Japan), Jacques Simard (Canada) |
| David Teng | Sensitive and Quantitative Detection of Somatic Tumor Mutations by Hi-Res MeltingTM on the LightScanner® |
| Jeffrey Falk | Mapping of cancer regulatory pathways and identification of prognostic cancer biomarkers using ChIP-DSL promoter analysis |
| Peggy Eis | Integrated Oncogenomics - Ultra-High Resolution Microarray Applications for Genome-Wide Cancer Research |
| Hiroyuki Aburatani | Cancer genome and epigenome |
| William W Lockwood | Novel Genetic and Epigenetic Features of Lung Tumor Genomes |
| Charles Meunier | Detection of a novel locus on chromosome 3 responsible for susceptibility to colon cancer (CRC) in mice |
| Daniel Sinnett | Impact of regulatory genetics in the susceptibility to childhood leukemia |
| Paulina M Wojnarowicz | Construction of a chromosome 17 transcriptome in ovarian cancer identifies differentially expressed genes |
| 3. Ethical Issues Related to Genome-Wide Scans (overview) | |
| Room 514 | Chair/Co-Chairs: Ruth Chadwick (UK), Kazuto Kato (Japan) |
| Andrea Boggio | Ownership and circulation of samples and data in genome-wide scans |
| Jeantine Lunshof | Telling the truth - Veracity and the language of consent |
| Cesar Lara-Alvarez | Ethical, legal and social aspects of the Mexican Genomic Variability Project |
| Rose M Geransar | Fads in the virtual gene shop: Direct-to-consumer advertisements and access to genetic tests |
| Heather Walmsley | What interests and values should guide biobanking in British Columbia? A deliberative public consultation |
| Darquise Lafrenière | Participating in Decision-Making Regarding Genetic Technologies: - A Matter of Self-Perceived Competence? |
| 4. Genes, Chromosomes and Diseases (overview) | |
| Room 517 | Chair/Co-Chairs: Hans Hilger Ropers (Germany), Roderick McInnes (Canada) |
| Abdul Noor | A novel locus for autosomal recessive non-syndromic mental retardation (NSMR) maps to chromosome 4p15.33-p15.2 |
| MA Rafiq | A novel locus for autosomal recessive mental retardation maps to 2p25.3-25.2 in a consanguineous Pakistani family |
| RM Møller | Whole genome array CGH of epilepsy patients with congenital brain malformations |
| Todd D Taylor | Co-transcription of genes into single transcripts: another regulatory mechanism for gene expression in vertebrates |
| Kwan-Wood G Lam | Processes of copy number change in human DNA : The dynamics of α-globin gene deletion |
| Karl Vandepoele | A Constitutional Translocation t(1;17)(p36.2;q11.2) in a Neuroblastoma Patient Disrupts NBPF1, a Member of a Recently Expanded Gene Family |
| Gertraud Burger | Unorthodox genome and gene structures in mitochondria of trypanosome pathogens and their relatives |
| Andrea Alter | Stepwise replication identifies a low-producing lymphotoxin-α allele as a major risk factor for early-onset leprosy |
| 5. Bioinformatics and Biostatistics | |
| Room 518 | Chair/Co-Chairs: Samir Brahmachari (India), Steven Jones (Canada) |
| MW Wright | If We Could Talk to the Animals |
| Ofir Davidovich | Tag SNPs Selected According to Prediction Accuracy Provide Higher Power to Association Studies |
| Arif Anwar | Application of a novel structured network pattern database technology towards accelerating personalised medicine research |
| Toshio Kojima | A method for identifying genome-wide copy number variations from signal intensity distribution of high-density oligonucleotide genotyping arrays |
| D Bharadwaj | Disease gene prediction based on domain interaction and network motif analysis in Type 2 Diabetes Mellitus |
| Pinchas Akiva | Non-SNP Sequence Variations In The Human Genome |
| Wednesday 23 May 2007 15:00 - 17:00 | 6. Neurological Disease Genetics |
| Room 524 | Chair/Co-Chairs: Veronica van Heyningen (UK), Guy Rouleau (Canada) |
| Lisa Baumbach Reardon | X-linked infantile spinal muscular atrophy (XL-SMA): new insights into gene discovery and pathogenesis |
| Ming-Chih Huang | Mutation Screening of AP3M2 in Japanese Epilepsy Patients |
| J-F Poulin | Ion Channel Genes and Episodic Neurological Disorders: What we can learn from a large-scale mutation screen |
| Ilse Gijselinck | Genomic Progranulin deletions in frontotemporal dementia patients |
| Ryota Kunita | The Rab5 activator ALS2/alsin acts as a novel Rac1 effector through Rac1-activated macropinocytosis |
| Jean-Baptiste Riviere | HSN2 is a tissue-specific alternative exon of the WNK1 gene |
| CL Smith | DNA Changes at Multiple Fragile Sites are Linked to Schizophrenia |
| PS Lai | Translational readthroughs of stop codons in dystrophin |
| 7. Unique Population Resources | |
| Room 519 | Chair/Co-Chairs: Damian Labuda (Canada), Alexandre Bureau (Canada) |
| Alfredo Hidalgo-Miranda | Haplotype-sharing between the Mexican Mestizos and European, Asian and African populations |
| Esteban J Parra | A genome-wide admixture mapping panel for Hispanic/Latino populations |
| Claude Bherer | Differential genetic contribution of founders to the regional gene pools of Quebec |
| Patricia Tonin | Heterogeneity of BRCA1/2 mutations in hereditary breast and/or ovarian cancer French Canadian families from Quebec Canada |
| Mitali Mukerji | The Indian Genome Variation (IGV) Initiative: Overview and analysis of Phase 1 data |
| Parvathi Kumara Reddy Thavanati | Recessive alleles and Longevity among Kurichians: a tribal population of Kerala, India |
| 8. Animal Models | |
| Room 518 | Chair/Co-Chairs: Chris Goodnow (Australia), Silvia Vidal (Canada) |
| MA Qadar Pasha | Cloning, genomic organization and expression analysis of yak HIF1A |
| Josep Maria Mercader | Differentially expressed miRNAs regulate levels of predicted mRNA targets in the hypothalamus of an anorexia mouse model |
| Mia Titine Nyberg | Intra-allelic Genetic Heterogeneity of Hypertrophic Cardiomyopathy in the Maine Coon Cat |
| Gundula Min-Oo | Genetic mapping reveals a role for pantetheinase in the host response to blood-stage malaria |
| SA Wiltshire | Mouse Genetic Model of Cardiovirulent Coxsackievirus B3 Infection |
| Lucie Sedova | Nutrigenomic, metabolic and transcriptomic aspects of fetal origins of metabolic syndrome |
| E Richer | ENU Facing the Infectious Diseases Global Threat |
| Jingsheng Tuo | Progressive Retinal Degeneration in CCL2/CX3CR1 Deficient Mice, a Novel Animal Model of Age-Related Macular Degeneration |
| 9. Disease Modifiers | |
| Room 520 | Chair/Co-Chairs: Joe Nadeau (USA), Tom Hudson (Canada) |
| Ruslan Dorfman | Modulatory effect of MBL2 on the onset of Pseudomonas aeruginosa infection is influenced by TGFB1 variants in pediatric Cysctic Fibrosis patients |
| Alexandra-Chloé Villani | The Familial Mediterranean Fever (MEFV) Gene as a New Susceptibility and Modifier Gene for Ulcerative Colitis |
| Jason Heaney | Transgenerational epistasis between Dnd1Ter and other modifier genes controls susceptibility to testicular germ cell tumors |
| Viive M Howell | The disease modifier SCNM1 interacts with spliceosome protein U1-70K and the novel factor LUC7L2 |
| Karine Lebel | Genotype/phenotype correlation studies in French-Canadian glaucoma families co-segregating myocilin and WDR36 mutations/variations |
| WA Alcaraz | Zfp423 marks a pathway in control of neural precursor proliferation and renewal |
| Thursday 24 May 2007 15:00 - 17:00 | 10. Genetics of the Heart (overview) |
| Room 524 | Chair/Co-Chairs: Emelia Benjamin (US), James Engert (Canada) |
| Pavel Hamet | Systematic search for sex-specific genomic determinants of 608 cardiovascular traits in French Canadians reveals novel loci/haplotypes |
| Qing Ling Duan | Genetic risk factors for depression in patients with coronary artery disease |
| Yann Joly | Informed Consent in Pharmacogenomic Research: A Natural Evolution? |
| Azim Nejatizadeh | Positive association of NOS3 gene polymorphisms and haplotypes in human essential hypertension in Indian population |
| D Burgner | Common ancestral haplotypes of the major histocompatibility complex are strongly associated with susceptibility to Kawasaki disease in Australian Caucasians |
| Jana Símová | Mutation Analysis of the FBN-1 Gene in Czech Patients with Aortic Dilatation |
| Renate Schnabel | Heritability, Environmental and Genetic Correlations and Linkage of Circulating Inflammatory Biomarker Concentrations |
| Daniel I Chasman | Polymorphism in the apolipoprotein(a) gene, plasma levels of Lp(a), ancestry, and interaction with aspirin treatment in cardiovascular disease prevention |
| 11. Large-Scale Genomics | |
| Room 519 | Chair/Co-Chairs: Kelly Frazer (US), Marco Marra (Canada) |
| TJ Aitman | FCGR3B copy number variation is associated with systemic but not organ-specific autoimmunity |
| Christopher Bauser | Analysis of the genomic insertion sites of viral gene therapy vectors using next generation sequencing technologies |
| Kelly Frazer | A genome-wide map of eight million SNPs in the laboratory mouse genome |
| Tony Kwan | Genome-Wide Association of Human DNA Sequence Variation with Differential pre-mRNA Processing and Transcription Initiation |
| Alexandre Montpetit | Copy-number variant detection using Illumina whole genome arrays |
| Ryan Morin | Identification of small RNAs important in embryonic stem cells and their differentiation |
| Sumio Sugano | Identification and comparative studies of promoter regions of human and mouse genes |
| Pablo Sandro Carvalho Santos | A Map of Transmission Ratio Distortion on Human Chromosome 6p |
| 12. High Throughput Genetic Screens | |
| Room 520 | Chair/Co-Chairs: Aarno Palotie (Finland), Brenda Andrews (Canada) |
| Christian Maercker | Mesenchymal stem cells in live cell chips for high-content screenings in functional genomics |
| Jane Rogers | High-Throughput Targeted Re-Sequencing for SNP Discovery and Mutation Detection |
| Andrew MK Brown | Development of Broad-based ADME Panels for Use in Pharmacogenomic Studies |
| David Serre | Design and analysis methods for multi-ethnic association studies: the case of the INTERHEART study |
| Saravanan Sundararajan | Real-time Single-Cell Analysis of Gene Expression |
| Hélène Fournier | High-Quality, High-Throughput Genotyping and Genetic Analysis: A Platform for Gene Discovery and Pharmacogenomics Studies |
| Bruno Paquin | Genome-Wide Association Studies for Complex Diseases Using Samples from the Quebec Founder Population: Examples with Psoriasis and ADHD |
| Project Briefing - The Challenge and Promise of the Human Variome Project | |
| Room 518 | Chair/Co-Chairs: Charles Scriver (Canada) |
| Richard Cotton | The Human Variome Project and current status |
| Anthony Brookes | New Developments in Genotype-To-Phenotype Databasing |
| Johan den Dunnen | Locus specific database and HGVS guidelines |
| Bernard Brais | The importance of maximal clinical data |
| Ruth Chadwick | The ethics of collecting genotype and clinical data for public databases. The importance of clinical data |
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