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The Genetic Association Information Network (GAIN) is a public-private partnership established to investigate the genetic basis of common diseases through a series of collaborative genome-wide association studies. GAIN has used new approaches for project selection, data deposition and distribution, collaborative analysis, publication and protection from premature intellectual property claims. These demonstrate a new commitment to shared scientific knowledge that should facilitate rapid advances in understanding the genetics of complex diseases.
The discovery of genetic risk factors for multiple sclerosis has proven difficult. IL-7Rα, encoded by IL7R, is a pleiomorphic cytokine receptor now implicated in the pathogenesis of multiple sclerosis in independently replicated genetic association studies.
Two reports present detailed analyses of the haplotype structure of widely used laboratory mice based on resequencing data from 15 inbred strains. The studies provide the deepest view thus far of the patterns of genetic variation segregating in the inbred lines, and have implications for the design of complex trait mapping studies in mice.
The report of a haplotype map for the selfing plant Arabidopsis thaliana has uncovered numerous major-effect polymorphisms and rapid linkage disequilibrium decay. This work lays the foundation for genome-wide association studies at near-gene-level resolution in a model organism possessing substantial functional diversity and extensive community resources.
Identical mutations of the same genes can lead either to congenital malformations or to cancer, depending on their cellular and temporal context. The demonstration of activated RAS-ERK signaling in a mouse model of Apert syndrome suggests that drugs designed to inhibit this pathway in cancer may also delay the progression of several serious pediatric syndromes.