This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.The United Dystrophinopathy Project (UPD) is a research project directed toward understanding how variations in the dystrophin gene affect the clinical symptoms of Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked cardiomopathy (the dystrophinopathies). These investigators have developed a method to rapidly, robustly, and economically perform direct sequence analysis of the entire coding and regulatory regions of the dystrophin gene, greatly expediting the characterization of mutations of many dystrophinopathy patients. In addition, this direct sequence analysis allows them to determine whether variations in the gene which are not known to be disease-causing (called 'polymorphisms') have some influence on the severity or course of the disease. Using this methodology, they will identify the mutations responsible for DMD and BMD in a large cohort of patients. From this same cohort, they will gather longitudinal natural history data, via a standardized and thorough phenotypic characterization obtained by (1) performing standardized clinical examinations, and (2) obtaining a standardized set of historical information. By correlating the genetic variation with severity of disease, they hope to gain a better understanding of how genetic mechanisms influence the disease.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000059-46
Application #
7604884
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2007-03-01
Project End
2007-09-16
Budget Start
2007-03-01
Budget End
2007-09-16
Support Year
46
Fiscal Year
2007
Total Cost
$1,629
Indirect Cost
Name
University of Iowa
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
062761671
City
Iowa City
State
IA
Country
United States
Zip Code
52242
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