Hilton Santa Fe Historic Plaza Hotel Floorplan

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This meeting took place in 2002



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Genotype to Phenotype: Focus on Disease (B7)


Organizer(s) Uta Francke and Stylianos E. Antonarakis
February 19—24, 2002
Hilton Santa Fe Historic Plaza Hotel • Santa Fe, New Mexico USA
Abstract Deadline: Oct 19, 2001
Late Abstract Deadline:
Scholarship Deadline:
Early Registration Deadline: Dec 19, 2001

Sponsored by Roche Diagnostics

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.

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No registration fees are used to fund entertainment or alcohol at this conference

Conference Program    Print  |   View meeting in 12 hr (am/pm) time


TUESDAY, FEBRUARY 19

16:00—19:00
Registration

Promenade
18:15—19:15
Welcome

Promenade
19:15—19:30
Orientation

Mesa A
19:30—20:30
Keynote Address
Meeting has ended...abstracts no longer viewable online.

Mesa A
Edward M. Rubin, Lawrence Berkeley National Laboratory, USA
Jewels in Junk DNA


WEDNESDAY, FEBRUARY 20

07:00—08:00
Breakfast

Chamisa
08:00—11:00
Diseases Caused by Abnormal Gene Dosage
Meeting has ended...abstracts no longer viewable online.

Mesa A
* Stylianos E. Antonarakis, University of Geneva Medical School, Switzerland
Trisomy 21 in Humans and Mouse Models

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

Uta Francke, Stanford University, USA
Williams-Beuren Syndrome Microdeletion

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

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

09:20—09:40
Coffee Break

Promenade
11:00—13:00
Poster Setup: All Posters Up for All Days

Mesa B
13:00—22:00
Poster Viewing

Mesa B
16:30—17:00
Coffee & Snacks Available

Promenade
17:00—19:00
Mechanisms of Abnormal Development
Meeting has ended...abstracts no longer viewable online.

Mesa A
Stephanie Ceman, Emory University School of Medicine, USA
Recent Advances in Fragile X Syndrome

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

Deepak Srivastava, Gladstone Institute of Cardiovascular Disease and University of California, San Francisco, USA
Genetics of Cardiac Development and Congenital Heart Disease

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

19:00—20:00
Welcome Mixer

Promenade
20:00—22:00
Poster Session 1: Mechanisms of Abnormal Development

Mesa B

THURSDAY, FEBRUARY 21

07:00—08:00
Breakfast

Chamisa
08:00—11:00
Using Single Gene Diseases to Understand Mechanisms
Meeting has ended...abstracts no longer viewable online.

Mesa A
Jeffrey M. Friedman, Rockefeller University, USA
Genetic Control of Obesity

Angela M. Christiano, Columbia University, USA
Hairlessness in Humans and Mice

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

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

09:20—09:40
Coffee Break

Promenade
11:00—13:00
Poster Setup

Mesa B
13:00—22:00
Poster Viewing

Mesa B
16:30—17:00
Coffee & Snacks Available

Promenade
17:00—19:00
Approaches to Common Human Diseases
Meeting has ended...abstracts no longer viewable online.

Mesa A
Helen H. Hobbs, University of Texas Southwestern Medical Center, USA
Genetic Defenses Against Sterol Accumulation

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

19:00—20:00
Welcome Mixer

Promenade
20:00—22:00
Poster Session 2: Common Diseases and Complex Disorders

Mesa B

FRIDAY, FEBRUARY 22

07:00—08:00
Breakfast

Chamisa
08:00—11:00
Epigenetic Mechanisms in Disease
Meeting has ended...abstracts no longer viewable online.

Mesa A
Rudolf Jaenisch, Whitehead Institute for Biomedical Research, USA
Nuclear Cloning and the Reprogramming of the Genome

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

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

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

09:20—09:40
Coffee Break

Promenade
14:30—16:30
Workshop: Resources: Human Syndrome and Disease Gene Databases

Mesa A
* Uta Francke, Stanford University, USA

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

Agnes Bankier, Murdoch Institute, Australia
Possum as a Research Tool for Embryonic Genes

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

16:30—17:00
Coffee & Snacks Available

Promenade
17:00—19:00
Approaches to Complex Disorders. Session Sponsored by the Juvenile Diabetes Research Foundation.
Meeting has ended...abstracts no longer viewable online.

Mesa A
* Jurg Ott, Rockefeller University, USA
Genome-Wide Association Studies for Complex Traits

Joseph D. Terwilliger, Columbia University, USA
Genetics and Environment in Complex Disorders

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

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

19:00—20:00
Welcome Mixer

Promenade

SATURDAY, FEBRUARY 23

07:00—08:00
Breakfast

Chamisa
08:00—11:00
SNP Analyses in Complex Disorders
Meeting has ended...abstracts no longer viewable online.

Mesa A
* Beverly S. Emanuel, University of Pennsylvania, Children's Hospital of Philadelphia, USA

Andreas Braun, Sequenom, Inc., USA
SNP Analysis in Complex Diseases

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

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

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

09:20—09:40
Coffee Break

Promenade
16:30—17:00
Coffee & Snacks Available

Promenade
17:00—19:00
Pharmacogenomics
Meeting has ended...abstracts no longer viewable online.

Mesa A
* William E. Evans, St. Jude Children's Research Hospital, USA
Pharmacogenomics: Translating Functional Genomics into Rational Therapeutics

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

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

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

19:00—20:00
Welcome Mixer

Promenade
20:00—23:00
Entertainment

Mesa Ballroom

SUNDAY, FEBRUARY 24

 
Departure


*Session Chair †Invited, not yet responded.



We gratefully acknowledge the generous grant for this conference provided by:


National Institutes of Health

Grant No. 1 R13DK061133-01




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