Genomic Investigation of Cardiovascular Diseases
|Coronary Artery Disease Myocardial Infarction Atrial Fibrillation Aortic Stenosis Mitral Regurgitation Idiopathic Cardiomyopathy|
|Study Design:||Observational Model: Case-Only
Time Perspective: Cross-Sectional
|Official Title:||The Genebank at Scripps Clinic Registry|
- 38 cc of blood obtained for DNA analysis. Medical information -diagnosis, disease history, medical treatments, response to treatments, laboratory tests, subject's age, ethnic background, and if available, related family history. [ Time Frame: At the time of informed consent ]
Biospecimen Retention: Samples With DNA
Cardiac Catheterization Patients
Blood will be collected from the patients that will undergo heart catheterization for establishing a gene bank registry. Informed consent will take place prior to cardiac catheterization. 38 cc of blood collected will be processed to create a repository of DNA, RNA, and lymphoblastoid cell-line immortalization on selected patient populations, plasma and serum. The DNA will be amplified in certain patient populations to preserve the quantity.
|Study Start Date:||June 2007|
|Estimated Study Completion Date:||September 2017|
|Estimated Primary Completion Date:||September 2017 (Final data collection date for primary outcome measure)|
By creating a genebank from patient's blood donations we will ultimately be able to define genes for various cardiovascular conditions.
The completion of the human genome project within the final months of the previous millennium, is a landmark of scientific accomplishment. This achievement heralds the importance human and molecular genetics will play in the coming century in medicine. In short, one expects that dissecting the phenotypic aspects of disease to a culprit mutation/variation of a gene or collection of genes, will modify and or augment our present diagnostic ability leading on to new therapeutic interventions that are targeted based on these discoveries.
The broad application of human genetics will progress from the study of rare mendelian traits with complete penetrance compiled over the last 3-4 decades to a large number of "common" diseases that have multi-gene etiology with variable penetrance such as non-insulin dependent diabetes mellitus and hypertension. Cardiology will probably stay at a forefront of this transformation, as cardiovascular diseases (CVD) remain the major source of morbidity and mortality in developing countries, and is fast reaching the same status in the underdeveloped countries. Furthermore, the track record of rapid adaptation of new technology and research in the field of cardiology, would give further impetus to this transition. In the midst of these dynamic currents, this proposal puts forward a research plan to initiate a genetic databank, henceforth referred to as The Genebank at Scripps Clinic Registry. This database will usher in genomic research at Scripps as we strive to stay at the forefront of cardiovascular research in the new century.
The objective of this study is, to obtain blood samples in order to define genes for various cardiovascular conditions. The blood samples will go through DNA analysis and noted for 1 million SNP's per individual.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00722748
|United States, California|
|La Jolla, California, United States, 92037|
|Principal Investigator:||Eric J Topol, MD||Scripps Translational Science Institute|