Web Desc
Genotype to Phenotype: Focus on Disease
Organizer(s): Uta Francke and Stylianos E. Antonarakis
Date: February 19 - 24, 2002
Location: Hilton Santa Fe Historic Plaza Hotel, Santa Fe, NM, USA
Sponsored by Roche Diagnostics
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Summary of Meeting:
In the post-genome era, the greatest challenge is to unravel the mechanisms by which mutant genes, or genes present in abnormal dosage, lead to disease phenotypes or predispositions. The combined use of molecular and cell biology with informatics and generation of animal models is making rapid inroads in disease gene identification and elucidation of the molecular basis of disease. Knowledge of developmental and signaling pathways gained in model organisms is translated into understanding human disease mechanisms. New paradigms need to be developed to handle the wealth of information provided by the genome sequence and expression profiling strategies to systematically approach the study of common and rare diseases. The goal of this symposium is to survey the recent advances in understanding the molecular pathogenesis of selected disorders caused by single gene mutations, complex multigenic predispositions or gene dosage imbalances and to bring together clinical scientists, molecular geneticists and computational biologists to focus on the collaborative opportunities between the scientific disciplines.
Discounted Abstract Deadline: October 19 2001
Discounted Registration Deadline: December 19 2001
We gratefully acknowledge the generous grant for this conference provided by:

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Grant No. 1 R13DK061133-01
We appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:

Click here to view more of these organizations
Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:

Click here to view more of these organizations

Program

Tuesday, February 19 | 4:00PM - 7:00PM
Registration
Room: Promenade


Tuesday, February 19 | 6:15PM - 7:15PM
Welcome
Room: Promenade


Tuesday, February 19 | 7:15PM - 7:30PM
Orientation
Room: Mesa A


Tuesday, February 19 | 7:30PM - 8:30PM
Keynote Address
Room: Mesa A

Speaker 1 of 1
Edward M. Rubin, Lawrence Berkeley National Laboratory, USA
Jewels in Junk DNA

Wednesday, February 20 | 7:00AM - 8:00AM
Breakfast
Room: Chamisa


Wednesday, February 20 | 8:00AM - 11:00AM
Diseases Caused by Abnormal Gene Dosage
Room: Mesa A

Speaker 1 of 5
* Stylianos E. Antonarakis, University of Geneva Medical School, Switzerland
Trisomy 21 in Humans and Mouse Models

Wednesday, February 20 | 8:00AM - 11:00AM
Diseases Caused by Abnormal Gene Dosage
Room: Mesa A

Speaker 2 of 5
Beverly S. Emanuel, University of Pennsylvania, Children's Hospital of Philadelphia, USA
Segmental Duplications in 22q11 Mediate Deletions, Translocations and Genomic Instability

Wednesday, February 20 | 8:00AM - 11:00AM
Diseases Caused by Abnormal Gene Dosage
Room: Mesa A

Speaker 3 of 5
Uta Francke, Stanford University, USA
Williams-Beuren Syndrome Microdeletion

Wednesday, February 20 | 8:00AM - 11:00AM
Diseases Caused by Abnormal Gene Dosage
Room: Mesa A

Speaker 4 of 5
Nathaniel Heintz, HHMI, The Rockefeller University, USA
Large-Scale Gene Dosage Studies via Human BAC Transgenics

Wednesday, February 20 | 8:00AM - 11:00AM
Diseases Caused by Abnormal Gene Dosage
Room: Mesa A

Speaker 5 of 5
Barry Bochner, Biolog, Inc., USA
Short Talk: Phenotype MicroArrays to Measure Genotype to Phenotype Changes

Wednesday, February 20 | 9:20AM - 9:40AM
Coffee Break
Room: Promenade


Wednesday, February 20 | 11:00AM - 1:00PM
Poster Setup: All Posters Up for All Days
Room: Mesa B


Wednesday, February 20 | 1:00PM - 10:00PM
Poster Viewing
Room: Mesa B


Wednesday, February 20 | 4:30PM - 5:00PM
Coffee & Snacks Available
Room: Promenade


Wednesday, February 20 | 5:00PM - 7:00PM
Mechanisms of Abnormal Development
Room: Mesa A

Speaker 1 of 4
Stephanie Ceman, Emory University School of Medicine, USA
Recent Advances in Fragile X Syndrome

Wednesday, February 20 | 5:00PM - 7:00PM
Mechanisms of Abnormal Development
Room: Mesa A

Speaker 2 of 4
* Orly Reiner, Weizmann Institute of Science, Israel
LIS1, Lissencephaly And Brain Development

Wednesday, February 20 | 5:00PM - 7:00PM
Mechanisms of Abnormal Development
Room: Mesa A

Speaker 3 of 4
Deepak Srivastava, Gladstone Institutes, USA
Genetics of Cardiac Development and Congenital Heart Disease

Wednesday, February 20 | 5:00PM - 7:00PM
Mechanisms of Abnormal Development
Room: Mesa A

Speaker 4 of 4
James R. Piggott, Lexicon Genetics, Inc., USA
Short Talk: High-Throughput Phenotypic Analysis In Mice For Drug Discovery

Wednesday, February 20 | 7:00PM - 8:00PM
Welcome Mixer
Room: Promenade


Wednesday, February 20 | 8:00PM - 10:00PM
Poster Session 1: Mechanisms of Abnormal Development
Room: Mesa B


Wednesday, February 20 | 8:00PM - 9:00PM
Cash Bar
Room: Promenade


Thursday, February 21 | 7:00AM - 8:00AM
Breakfast
Room: Chamisa


Thursday, February 21 | 8:00AM - 11:00AM
Using Single Gene Diseases to Understand Mechanisms
Room: Mesa A

Speaker 1 of 4
Jeffrey M. Friedman, Rockefeller University, USA
Genetic Control of Obesity

Thursday, February 21 | 8:00AM - 11:00AM
Using Single Gene Diseases to Understand Mechanisms
Room: Mesa A

Speaker 2 of 4
Angela M. Christiano, Columbia University, USA
Hairlessness in Humans and Mice

Thursday, February 21 | 8:00AM - 11:00AM
Using Single Gene Diseases to Understand Mechanisms
Room: Mesa A

Speaker 3 of 4
* Harry (Hal) C. Dietz, Johns Hopkins University School of Medicine, Blade Therapeutics, USA
Mouse Models for Marfan Syndrome

Thursday, February 21 | 8:00AM - 11:00AM
Using Single Gene Diseases to Understand Mechanisms
Room: Mesa A

Speaker 4 of 4
Melissa J. Hanson, National Institutes of Health, USA
Short Talk: SCA2 Expansion Carriers may Present with Clinical Parkinson’s Disease


Thursday, February 21 | 9:20AM - 9:40AM
Coffee Break
Room: Promenade


Thursday, February 21 | 11:00AM - 1:00PM
Poster Setup
Room: Mesa B


Thursday, February 21 | 1:00PM - 10:00PM
Poster Viewing
Room: Mesa B


Thursday, February 21 | 4:30PM - 5:00PM
Coffee & Snacks Available
Room: Promenade


Thursday, February 21 | 5:00PM - 7:00PM
Approaches to Common Human Diseases
Room: Mesa A

Speaker 1 of 2
Helen H. Hobbs, University of Texas Southwestern Medical Center, USA
Genetic Defenses Against Sterol Accumulation

Thursday, February 21 | 5:00PM - 7:00PM
Approaches to Common Human Diseases
Room: Mesa A

Speaker 2 of 2
Ray White, DNA Sciences Inc., USA
Use of Founder Populations for Detection of Common Disease Alleles

Thursday, February 21 | 7:00PM - 8:00PM
Welcome Mixer
Room: Promenade


Thursday, February 21 | 8:00PM - 10:00PM
Poster Session 2: Common Diseases and Complex Disorders
Room: Mesa B


Thursday, February 21 | 8:00PM - 9:00PM
Cash Bar
Room: Promenade


Friday, February 22 | 7:00AM - 8:00AM
Breakfast
Room: Chamisa


Friday, February 22 | 8:00AM - 11:00AM
Epigenetic Mechanisms in Disease
Room: Mesa A

Speaker 1 of 4
Rudolf Jaenisch, Whitehead Institute for Biomedical Research, USA
Nuclear Cloning and the Reprogramming of the Genome

Friday, February 22 | 8:00AM - 11:00AM
Epigenetic Mechanisms in Disease
Room: Mesa A

Speaker 2 of 4
Marisa S. Bartolomei, University of Pennsylvania Perelman School of Medicine, USA
Regulation of Imprinting in the H19/ Igf2 Locus

Friday, February 22 | 8:00AM - 11:00AM
Epigenetic Mechanisms in Disease
Room: Mesa A

Speaker 3 of 4
* Denise P. Barlow, Center for Molecular Medicine, Austria
The Role of Non-Coding cis Regulatory RNAs in Genomic Imprinting

Friday, February 22 | 8:00AM - 11:00AM
Epigenetic Mechanisms in Disease
Room: Mesa A

Speaker 4 of 4
Arthur L. Beaudet, Baylor College of Medicine, USA
Short Talk: A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution

Friday, February 22 | 9:20AM - 9:40AM
Coffee Break
Room: Promenade


Friday, February 22 | 2:30PM - 4:30PM
Workshop: Resources: Human Syndrome and Disease Gene Databas
es
Room: Mesa A

Speaker 1 of 4
* Uta Francke, Stanford University, USA

Friday, February 22 | 2:30PM - 4:30PM
Workshop: Resources: Human Syndrome and Disease Gene Databas
es
Room: Mesa A

Speaker 2 of 4
Robin M. Winter, Institute Child Health London, UK
London Dysmorphology Database: Diagnostic and Research Applications

Friday, February 22 | 2:30PM - 4:30PM
Workshop: Resources: Human Syndrome and Disease Gene Databas
es
Room: Mesa A

Speaker 3 of 4
Agnes Bankier, Murdoch Institute, Australia
Possum as a Research Tool for Embryonic Genes

Friday, February 22 | 2:30PM - 4:30PM
Workshop: Resources: Human Syndrome and Disease Gene Databas
es
Room: Mesa A

Speaker 4 of 4
Martin Ringwald, The Jackson Laboratory, USA
Mouse Genome Informatics (MGI): Integrated Access to Mouse Genotype, Expression and Phenotype Data

Friday, February 22 | 4:30PM - 5:00PM
Coffee & Snacks Available
Room: Promenade


Friday, February 22 | 5:00PM - 7:00PM
Approaches to Complex Disorders. Session Sponsored by the J
uvenile Diabetes Research Foundation.

Room: Mesa A

Speaker 1 of 4
* Jurg Ott, Rockefeller University, USA
Genome-Wide Association Studies for Complex Traits

Friday, February 22 | 5:00PM - 7:00PM
Approaches to Complex Disorders. Session Sponsored by the J
uvenile Diabetes Research Foundation.

Room: Mesa A

Speaker 2 of 4
Joseph D. Terwilliger, Columbia University, USA
Genetics and Environment in Complex Disorders

Friday, February 22 | 5:00PM - 7:00PM
Approaches to Complex Disorders. Session Sponsored by the J
uvenile Diabetes Research Foundation.

Room: Mesa A

Speaker 3 of 4
Laura C. Lazzeroni, Stanford University, USA
Allele Sharing and Allelic Association: Interpretation and Implications

Friday, February 22 | 5:00PM - 7:00PM
Approaches to Complex Disorders. Session Sponsored by the J
uvenile Diabetes Research Foundation.

Room: Mesa A

Speaker 4 of 4
Joseph F. Cubells, Yale University School of Medicine, USA
Short Talk: Linkage Disequilibrium (LD) at DBH, and Plasma Dopamine beta Hydroxylase Activity


Friday, February 22 | 7:00PM - 8:00PM
Welcome Mixer
Room: Promenade


Friday, February 22 | 8:00PM - 9:00PM
Cash Bar
Room: Promenade


Saturday, February 23 | 7:00AM - 8:00AM
Breakfast
Room: Chamisa


Saturday, February 23 | 8:00AM - 11:00AM
SNP Analyses in Complex Disorders
Room: Mesa A

Speaker 1 of 5
* Beverly S. Emanuel, University of Pennsylvania, Children's Hospital of Philadelphia, USA

Saturday, February 23 | 8:00AM - 11:00AM
SNP Analyses in Complex Disorders
Room: Mesa A

Speaker 2 of 5
Andreas Braun, Sequenom, Inc., USA
SNP Analysis in Complex Diseases

Saturday, February 23 | 8:00AM - 11:00AM
SNP Analyses in Complex Disorders
Room: Mesa A

Speaker 3 of 5
Craig A. Gelfand, Orchid BioSciences, Inc., USA
High-Throughput SNP Genotyping Enabling Pharmacogenomic Studies

Saturday, February 23 | 8:00AM - 11:00AM
SNP Analyses in Complex Disorders
Room: Mesa A

Speaker 4 of 5
Joel N. Hirschhorn, Children's Hospital, Boston, USA
Genomic and SNP-Based Approaches to Type 2 Diabetes and Other Complex Traits

Saturday, February 23 | 8:00AM - 11:00AM
SNP Analyses in Complex Disorders
Room: Mesa A

Speaker 5 of 5
Wolfgang Pusch, Bruker Daltonik GmbH, Germany
Short Talk: MALDI-TOF Mass Spectrometry Based SNP Genotyping

Saturday, February 23 | 9:20AM - 9:40AM
Coffee Break
Room: Promenade


Saturday, February 23 | 4:30PM - 5:00PM
Coffee & Snacks Available
Room: Promenade


Saturday, February 23 | 5:00PM - 7:00PM
Pharmacogenomics
Room: Mesa A

Speaker 1 of 4
* William E. Evans, St. Jude Children's Research Hospital, USA
Pharmacogenomics: Translating Functional Genomics into Rational Therapeutics

Saturday, February 23 | 5:00PM - 7:00PM
Pharmacogenomics
Room: Mesa A

Speaker 2 of 4
Joel Claiborne Stephens, Genaissance Pharmaceuticals, Inc., USA
DNA Variability of Human Genes

Saturday, February 23 | 5:00PM - 7:00PM
Pharmacogenomics
Room: Mesa A

Speaker 3 of 4
Nicholas C. Dracopoli, Janssen R&D Inc., USA
Use of Pharmacogenomics in Clinical Drug Development

Saturday, February 23 | 5:00PM - 7:00PM
Pharmacogenomics
Room: Mesa A

Speaker 4 of 4
Michael Catania, Motorola Life Sciences, USA
Short Talk: CYP450 - Genotype/Phenotype Correlations

Saturday, February 23 | 7:00PM - 8:00PM
Welcome Mixer
Room: Promenade


Saturday, February 23 | 8:00PM - 11:00PM
Entertainment
Room: Mesa Ballroom


Saturday, February 23 | 8:00PM - 11:00PM
Cash Bar
Room: Promenade


Sunday, February 24 | 10:21AM - 10:21AM
Departure


*Session Chair
†Invited, not yet responded.