Pseudoxanthoma Elasticum Research Meeting 2004
October 14 – 15, 2004 • Bethesda, Maryland

Keynote: Translational Research for Rare Diseases: Using the Tools of the Trade
Francis S. Collins, MD, PhD; National Human Genome Research Institute, NIH; Bethesda, MD

Basic Science

Decoding the Human Genome by Multi-Species Sequence Comparisons - Eric Green, National Human Genome Research Institute, NIH

ABC Transporter Family - Michael Dean, National Cancer Institute, NIH

Small Molecule Screening - Michael Gottesman, National Cancer Institute, NIH

Substrate Selectivity of New MRP family members - Gary Kruh, Fox Chase Cancer Center Philadelphia, PA

Metabolic Disorders of the Liver and Kidney - David Perlmutter, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh

Genetics of PXE

ABCC6 Gene Mutations in South African Patients with PXE - Michele Ramsay, Division of Human Genetics, National Health Laboratory and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa

Autosomal Dominant Inheritance in Pseudoxanthoma Elasticum - Debunking the Myth- Franziska Ringpfeil, Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania

Standardization of a Mutation Detection Strategy for ABCC6 - Ellen Pfendner, Department of Dermatology and Cutaneous Biology Thomas Jefferson University Philadelphia PA

Cell Biology of PXE

Analysis of ABCC6/MRP6 Gene Expression in Human Cell Lines - Tamas Aranyi, Institute of Enzymology, Hungarian Academy of Sciences, Budapest, Hungary

Localization and Biophysiology: Analysis of Missense PXE - Mutants of ABCC6 - Andras Varadi, Institute of Enzymology, Hungarian Academy of Science, Budapest, Hungary

Cellular Phenotype/Cell Behaviour/Pathology - Ivonne Ronchetti, University of Modena and Reggio Emilia, Modena, Italy

The Pathobiology of Acquired Pseudoxanthoma Elasticum - Olivier LeSaux, University of Hawai'i, Honolulu

Mechanistic Rationale for the Use of Phosphate Binders in PXE - Mark Lebwohl, Mount Sinai Medical School

Human Disease Associated with ABC Transporters

Liver-Related ABC Transporter Diseases Related to Inheritable Defect in Bile Secretion and Cholestasis - Irwin Arias, NIH

Tangier - Bryan Brewer (invited)

Stargardts, RP and AMDR - Richard Lewis, Baylor College of Medicine, Houston, TX

PXE Phenotype

PXE Knockout Mouse - Jouni Uitto, Jefferson Medical College

Visceral Calcifications as Part of the Phenotype in Pseudoxanthoma Elasticum: Ultrasonographical Findings in Belgian Patients and Heterozygous Carriers - Anne DePaepe, Center for Medical Genetics, Ghent University Hospital, Belgium

Bruch's Membrane Biology - TBA

Mechanisms of Calcification - TBA

Genotype/Phenotype Correlations - Patrick Terry, PXE International

Clinical Issues in PXE

Pregnancy and Obstetrical Outcomes in PXE - Lionel Bercovitch, Brown University

Treatments for the Eye Manifestations of PXE - Wayne Fuchs, New York Eye and Ear Infirmary

Burden of Disease - Sharon Terry, PXE International, Genetic Alliance

Framing the Research Agenda (Panel discussion)
Moderator: Francis Collins

Consensus: Research Focus, next steps, clinical implications
Participants: Irwin Arias, Lionel Bercovitch, Michael Gottesman, Richard Lewis, Patrick Terry and Jouni Uitto