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Dr. Eichler studies regions in the human genome that are linked to large-scale changes in chromosome structure, such as the duplication, deletion, and rearrangement of nearby genes. Eichler and his colleagues hypothesize that these regions may be linked both to rapid advances in primate evolution and to developmental disabilities. By studying genetic variation in these regions, Eichler’s group has identified at least four recurrent, structural genetic variations linked to intellectual disabilities. To find more variations linked to developmental disabilities, and to study the extent of typical genetic variation, they are using high-throughput techniques for genetic analysis to compare the genomes of children with and without developmental disabilities. Evan Eichler's Genome Sciences web page CHDD Outlook 2009 Issue#1- Genetic 'Hot Spots' Linked to Developmental Disabilities University of Washington • Center on Human Development and Disability Box 357920 • Seattle WA 98195-7920 USA • 206-543-7701 •chdd@uw.edu Copyright © 1996—2013 Center on Human Development and Disability. Updated: November 17, 2011 |
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