| SUNDAY |
| 2:00 pm - 9:00 pm | Arrival and Check-in |
| 6:00 pm | Dinner |
| 7:30 pm - 9:30 pm | OPENING KEYNOTE & LANDSCAPE-SETTING TALKS |
| Chair & Discussion Leader: Eric Green (NHGRI) |
| 7:30 pm - 7:45 pm | Welcome and Introductory Remarks |
| 7:45 pm - 8:30 pm | Opening Keynote: Francis Collins (NHGRI)
"Making Genomic Medicine a Reality" |
| 8:30 pm - 9:00 pm | David Altshuler (Broad Institute)
"Human Genetic Variation and Disease" |
| 9:00 pm - 9:30 pm | Eddy Rubin (Joint Genome Institute)
"Comparative Genomics at the Extremes" |
| MONDAY |
| 7:30 am - 8:30 am | Breakfast |
| 9:00 am - 12:30 pm | THE HUMAN HAPMAP: CONSTRUCTION AND UTILITY |
| Chair & Discussion Leader: Robert Nussbaum (NHGRI) |
| 9:00 am - 9:30 am | Peter Donnelly (Oxford University)
"The Fine-Scale Landscape of Recombination in the Human Genome" |
| 9:30 am - 10:00 am | Kelly Frazer (Perlegen Sciences)
"Human Genetic Variation and Common Disease: A Short Term Approach for Improving Human Health" |
| 10:00 am - 10:30 am | Coffee Break / Group Photo (10:15 am) |
| 10:30 am - 11:00 am | Yusuke Nakamura (RIKEN and University of Tokyo)
"Biobank Project in Japan" |
| 11:00 am - 11:30 am | Matthew Hurles (Sanger Institute)
"Sequence Evolution and Haplotype Variation within Segmental Duplications" |
| 11:30 am - 12:00 pm | Mark Daly (Broad Institute)
"Applying Haplotype Maps in Human and Mouse Genetics" |
| 12:00 pm - 12:30 pm | General Discussion |
| 12:30 pm | Lunch |
| 1:30 pm - 4:00 pm | Free Time |
| 4:00 pm - 6:00 pm | Poster Session |
| 6:00 pm | Dinner |
| 7:30 pm - 9:30 pm | HUMAN MONOGENIC DISEASES |
| Chair & Discussion Leader: Huntington Willard (Duke University) |
| 7:30 pm - 8:00 pm | Robert Nussbaum (NHGRI)
"A Molecular Genetic Approach to Understanding Parkinson Disease" |
| 8:00 pm - 8:30 pm | Steve Warren (Emory University)
"Fragile X Syndrome & Fragile X Neurodegeneration: Novel RNA Mechanisms" |
| 8:30 pm - 9:00 pm | Raju Kucherlapati (Harvard University)
"Molecular Basis for DiGeorge/VCF Syndrome" |
| 9:00 pm - 9:15 pm | Tony Antonellis (NHGRI)
"Glycyl-tRNA Synthetase Mutations in Autosomal Dominant Peripheral Neuropathy" |
| 9:15 pm - 9:30 pm | Amanda Myers (NIA)
"The Microtubule-Associated Protein tau Locus in Evolution and Disease" |
| TUESDAY |
| 7:30 am - 8:30 am | Breakfast |
| 9:00 am - 12:30 pm | HUMAN OLIGOGENIC DISEASES |
| Chair & Discussion Leader: Steve Warren (Emory University) |
| 9:00 am - 9:30 am | Helen Hobbs (UT Southwestern)
"Genetic Architecture of Atherogenic Lipoproteins" |
| 9:30 am - 10:00 am | Aravinda Chakravarti (Johns Hopkins University)
"SNPs (Single Nucleotide Polymorphisms) and SVPs (Structural Variant Polymorphisms) in Complex Diseases" |
| 10:00 am - 10:30 am | Eric Boerwinkle (University of Texas, Houston)
"Pharmacogenomics of Blood Pressure and Lipid-Lowering Medication" |
| 10:30 am - 11:00 am | Coffee Break |
| 11:00 am - 11:30 am | Nicholas Katsanis (Johns Hopkins University)
"The Role of Basal Bodies in Pleiotropic Disease" |
| 11:30 am - 11:45 am | Nelly Pitteloud (Massachusetts General Hospital)
"Idiopathic Hypogonadotropic Hypogonadism (IHH) & Kallmann Syndrome (KS) Associated with Mutations in More than 1 Gene: New Evidence for a Digenic Mode of Inheritance" |
| 11:45 am - 12:00 pm | Zhicheng Lin (Harvard Medical School)
"Common 5' Dopamine Transporter (SLC6A3) Haplotypes Yield Varying Promoter Activity" |
| 12:00 pm - 12:30 pm | General Discussion |
| 12:30 pm | Lunch |
| 1:30 pm - 4:00 pm | Free Time |
| 4:00 pm - 6:00 pm | Poster Session |
| 6:00 pm | Dinner |
| 7:30 pm - 9:30 pm | HUMAN CHROMOSOME BIOLOGY AND EVOLUTION |
| Chair & Discussion Leader: Evan Eichler (University of Washington) |
| 7:30 pm - 8:00 pm | Huntington Willard (Duke University)
"X Inactivation -- Genome, Chromatin, or Chance?" |
| 8:00 pm - 8:30 pm | Wendy Bickmore (MRC Human Genetics Unit, Edinburgh)
"Chromatin Architecture of the Human Genome" |
| 8:30 pm - 9:00 pm | Nigel Carter (Sanger Institute)
"Chromosomes in Disarray" |
| WEDNESDAY |
| 7:30 am - 8:30 am | Breakfast |
| 9:00 am - 12:30 pm | FUNCTIONAL AND EVOLUTIONARY CHARACTERIZATION OF THE HUMAN GENOME |
| Chair & Discussion Leader: Aravinda Chakravarti (Johns Hopkins University) |
| 9:00 am - 9:30 am | David Page (Whitehead Institute)
"Beyond the Reference Sequence: Human, Chimp, and Mouse Y Chromosomes" |
| 9:30 am - 10:00 am | Eric Green (NHGRI)
"Deciphering Genome Function by Multi-Species Sequence Comparisons" |
| 10:00 am - 10:30 am | Tom Gingeras (Affymetrix)
"Empirical Determination of the Sites of RNA Transcription Across Human and Fly Genomes" |
| 10:30 am - 11:00 am | Coffee Break |
| 11:00 am - 11:30 am | Evan Eichler (University of Washington)
"Segmental Duplications and Structural Variation of the Human Genome" |
| 11:30 am - 11:45 am | Charles Lee (Harvard Medical School)
"Large-Scale Copy Number Variations in the Human Genome" |
| 11:45 am - 12:00 pm | Heike Fiegler (Sanger Institute)
"Getting Old: ChIP-on-Chip Analysis of DNA Damage in Senescence" |
| 12:00 pm - 12:30 pm | General Discussion |
| 12:30 pm | Lunch |
| 1:30 pm - 4:00 pm | Free Time |
| 4:00 pm - 6:00 pm | Poster Session |
| 6:00 pm | Dinner |
| 7:00 pm - 7:30 pm | Business Meeting |
| 7:30 pm - 9:30 pm | HUMAN GENOME DYNAMICS |
| Chair & Discussion Leader: David Altshuler (Broad Institute) |
| 7:30 pm - 8:00 pm | James Lupski (Baylor College of Medicine)
"The Genomic Basis of Disease: Mechanisms and Assays for Genomic Disorders" |
| 8:00 pm - 8:30 pm | Michael Wigler (Cold Spring Harbor Laboratory)
"Gene Copy Variation in Human Disease" |
| 8:30 pm - 9:00 pm | Jim Sikela (University of Colorado)
"Genome-Wide Survey of Gene Copy Number Variation in Human and Great Ape Lineages" |
| 9:00 pm - 9:30 pm | John Moran (University of Michigan)
"Studies of a Human Retrotransposon" |
| THURSDAY |
| 7:30 am - 8:30 am | Breakfast |
| 9:00 am - 12:30 pm | MOLECULAR GENETICS AND THERAPEUTICS OF HUMAN GENETIC DISEASE |
| Chair & Discussion Leader: David Page (Whitehead Institute) |
| 9:00 am - 9:30 am | Stuart Orkin (Harvard University)
"Genetics of Hematopoiesis" |
| 9:30 am - 10:00 am | Gregory Cole (UCLA)
"Curcumin: Efficacy Against Alzheimer's Disease?" |
| 10:00 am - 10:30 am | Michael Sereda (Max-Planck Institute - Göttingen)
"Transgenic Models of Myelin Diseases: From Basic to Clinical Research" |
| 10:30 am - 11:00 am | Coffee Break |
| 11:00 am - 11:30 am | Jean Bennet (University of Pennsylvania)
"Technological Advances in Somatic Gene Manipulation and Potential Applications to Therapy for Retinal Diseases" |
| 11:30 am - 11:45 am | Salim Mottagui-Tabar (Scripps Florida)
"Semi-throughput Method for the Detection and Analysis of Regulatory SNPs in 5'-UTR Regions of Human Transcripts" |
| 11:45 am - 12:00 pm | Susan Slaugenhaupt (Massachusetts General Hospital)
"Therapeutic Strategies Based on mRNA Splicing Modification in Human Genetic Disease" |
| 12:00 pm - 12:30 pm | General Discussion |
| 12:30 pm | Lunch |
| 1:30 pm - 4:00 pm | Free Time |
| 4:00 pm - 6:00 pm | Poster Session |
| 6:00 pm | Dinner |
| 7:30 pm - 9:30 pm | CLOSING KEYNOTE TALK |
| Chair & Discussion Leader: James Lupski (Baylor College of Medicine) |
| 7:30 pm - 8:30 pm | Closing Keynote: Mario Capecchi (University of Utah)
"Mouse Models of Human Disease from Cancer to Neuropsychiatric Disorders" |
| 8:30 pm - 9:00 pm | General Discussion |
| FRIDAY |
| 7:30 am - 8:30 am | Breakfast |
| 9:00 am | Depart |
