Genetic Modifiers of Mendelian Diseases
Four Points Sheraton
Embassy Ballroom
Bethesda, Maryland
September 9-10, 2002 Summary
The National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) announces a Symposium focused on identifying genetic modifiers that alter the clinical features of Mendelian diseases.
Striking variations are seen in clinical expression of genetically based diseases, presumably due to differences in the genetic makeup and the environmental exposure of the affected individual. Even though a mutation in a single gene may play a predominant role in the development of a Mendelian disorder, individuals with identical genotypes at that locus may display considerable variation in the prevalence, severity, and clinical symptoms of the disorder. To understand this variation, it is important to find genes or other factors that contribute to this variation.
The Symposium will bring together investigators to discuss recent advances in the identification of genetic modifiers, and to describe the variety of methods and technologies that may be used to identify these modifiers. The meeting will include a keynote address, plenary talks and a poster session. The presentations and discussions will help NIDDK plan its research agenda for genetic diseases within its Mission.
Agenda
Chairs: Lap-Chee Tsui, David Weatherall
September 9, 2002
Welcome – 1 PM
Afternoon Session
Identification of Genetic Modifiers of Human Disease
Genetic Modifiers in CF
Lap-Chee Tsui
Genetic Modifiers in Human and Rodent PKD
David Woo
Genetics of Hirshsprung Disease
Chakravarti
Adrenal Hypoplasia Congenita or GKD
Ed McCabe
Genetic Modifiers of Sickle Cell Disease
Griff Rodgers
Discovery Strategies of Genetic Modifiers in Mendelian and Polygenic Diseases
Andreas Braun
Social and Buffet – 6 –8 pm
Keynote – 8 PM
Genetic Modifiers of E/beta Thalassemia
Professor Sir David Weatherall
September 10, 2002
Morning Session
Animal Models for Identification of Modifiers
Strategies for finding modifiers in mouse models of human Diseases
Joe Nadeau
Genetic Modifiers Influencing Multiple Intestinal Neoplasia in the Min Mouse Model
Linda Siracusa
Mouse Models of Alagille Syndrome
Thomas Gridley
Identifying Gene Interactions and Modifiers of Hirshsprung Disease
Michelle Southard-Smith
Poster Session – 11 am to 1 pm
Model Systems for Identification of Genetic Modifiers
C. elegans for Identifying Genetic Modifiers
Maureen Barr (not confirmed)
Zebrafish for Identifying Genetic Modifiers
Iain Drummond
Afternoon Session
Mechanisms for Genetic Modifiers
Synergistic Heterozygosity
Jerry Vockley
Suppressors of Non-syndromic deafness
Thomas Friedman
Genetic Heterogeneity in Gaucher Disease
Ellen Sidransky
Wrap up
Lessons Learned from Hemochromatosis
Ernie Beutler
Adjourn – 4 pm
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