Matthew Taylor, MD, PhD Primary Investigator Familial Dilated Cardiomyopathy: Genetic Characterization More details about primary research: Dilated Cardiomyopathy (DCM) is a primary disease of the heart muscle typified by progressive ventricular dilation and dysfunction. DCM is an important and common cause of congestive heart failure. Furthermore, a substantial proportion of DCM cases (35-58%) are the result of single gene mutations and multiple DCM-genes have been linked to the disease. However, the relative contributions of each gene to the overall prevalence and phenotype of DCM are currently unknown. Such information is critical to improving the clinical diagnosis, genetic counseling, and practical management of DCM. Dr. Taylor’s research proposed will elucidate the genetic epidemiology of mutations in known DCM-genes and will seek to characterize the genotype-to-phenotype correlations that exist in both familial and sporadic cases of DCM. The approach is founded upon an existing comprehensive database that contains clinical, pedigree, laboratory, and DNA data for over 90 DCM families. High-throughput mutation screening for mutations is being performed on the database DNA to define the genetic epidemiology. The mutation data will be merged with the comprehensive clinical information stored in the database to uncover relationships between genotype and clinical phenotype. The results are expected to be applied to the processes of genetic counseling and testing of DCM patients. Secondary research areas: Polycystic Kidney Disease Lysosomal Storage Diseases Hypertrophic Cardiomyopathy Integration of Clinical Genetics into Adult Primary Care Medicine Endothelin Research team: PRAs Dobromir Slavov, PhD Xiao Zhu Medical Students Angel Eguaras (graduation in 2007) Christine Adams (graduated in 2005) Kurt Humphreys (graduation in 2007) Lab location: Colorado Bioscience Park Building (Fitzsimons Campus) 12635 East Montview Blvd. Suite 100 Aurora, CO 80010 303-724-1400 303-724-0020 (fax)