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News
19 March 2007
The WCN 2007 Opening Ceremony and Lecture - Saturday April 21, 17:00 - 19:00, the Plenary Hall, Pavilion 5 - promise to set the scientific stage, pace and excellence to be reflected throughout the entire Congress. From 19:00 onwards we hope that you will also join us, friends and colleagues at the WCN Welcome Reception to celebrate bringing renal insights and opportunities to Rio for 4 1/2 unforgettable days of international debate and exchange.
Genes, Genomes and the Future of Nephrology.
Richard P. Lifton, Howard Hughes Medical Institute and Yale School of Medicine (USA).
Virtually all renal diseases have a genetic component. Tools emerging from the human genome project have enabled the identification of these susceptibility genes. Success with this endeavor has the capacity to define the genes and pathways that underlie both rare and common diseases. Knowledge of the inherited contributions to disease has the potential to illuminate the environmental factors that contribute to disease as well. This new knowledge permits identification of inherited susceptibility in the preclinical phase and has the potential to identify key targets for new therapeutic intervention that will improve health.
The first phase of the human genetic revolution has identified a large number genes responsible for Mendelian traits in which typically rare mutations impart large effects on disease risk. These have included genes for high and low blood pressure and electrolyte abnormalities, genes for polycystic kidney disease, glomerular disease, and abnormalities of renal development. The identification of genes that contribute to common, complex diseases has proved more challenging. Nonetheless, with the completion of the human genome sequence, the comprehensive identification of common variations in DNA sequence and copy number, and the ability to rapidly re-sequence large segments of the genome, the opportunity to identify the contribution of both rare and common variants to common diseases is at hand, and one can anticipate continued great progress in the field over the next decade.
Barriers to progress include the paucity of large, well-characterized cohorts for investigation and difficulties in scientific culture that fail to adequately reward interdisciplinary collaboration. Overcoming these obstacles will allow determination of the inherited contributions to renal disease, markedly advance our understanding of disease biology, and result in improved approaches to diagnosis and therapy.
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