Genetics & Functional Genomics

Building on the foundation of the clinical recognition that many immunologic diseases show familial clustering, which may reflect in part a genetic predisposition, understanding the genetic variations underpinning IBD, SLE and RA, to name a few, has been a particular focus of the CAMAC.  Spanning three UAB schools and the Hudson Alpha Institute for Biotechnology, the CAMAC brings together outstanding expertise in human complex diseases, statistical genetics, high-through put genomic technology and generation of animal models of human genomic variation.  Redefining “translation” to include ‘human-to-mouse (h2m)’ as well as bench to bedside, CAMAC investigators and UAB cohorts are playing central roles in national and international consortia at the same time that focused projects in functional genomics are advancing our understanding of the biological roles of disease associated variants.  Some variants, including alleles of receptors for antibody, have been translated into available “diagnostics” for the pharmacogenomics of antibody-based therapeutics.