My scientific goal in physiogenomic cardiovascular research is to elevate the experience of clinical practice as a laboratory for mechanistic inference, a counterpart to animal, cellular, and molecular models of disease. My group at the Genetics Research Center, Hartford Hospital has already succeeded in utilizing variability in clinical responses to several cardiovascular and neuropsychiatric drugs to underscore their common and contrasting mechanisms relevant to efficacy, side-effects and disease staging. By approaching clinical practice as a model system, the translation of research findings to improve cardiovascular personalized medicine will be substantially accelerated. In the current MBRS SC1 project headed by Dr. Duconge (PI), he will investigate the contribution of genomic admixture to warfarin response variability in the Caribbean Hispanic population, which is highly admixed. In highly heterogeneous populations, existing "one-size-fits-all" medications and prescription recommendations are likely to be ineffective, or worse, cause harm through side effects. With history and ancestry spanning African, Amerindian, and European origins, the typical Caribbean Hispanic person defies conventional ethno-geographic definitions. Clinical research should be undertaken in diseases demonstrating higher prevalence in the Hispanic population to improve the existing treatments and re-adjust dosing regimens in targeted recipients from such a highly heterogeneous population. A major advance in global medicine and eradication of healthcare disparities would be a transition from the current empirical approaches derived mostly from European populations to a world-wide, genetically predictive framework based on admixture and physiogenomics by determining each individual patient's response to key drugs such as warfarin. In the present project, I will fully commit myself to serve as a consultant in order to oversee genotyping analyses of the DNA samples and development of admixture vectors by Dr. Duconge. I will also assist in study design, interpretation of results and in writing up reports and papers. My collaboration with Dr. Duconge and his co-workers at the University of Puerto Rico-Medical Sciences Campus has now spanned for more than 5 years, with several peer-reviewed publications and presentations produced since then. Important to mention that I have been honored to serve over the last 3 years as a mentor of Dr. Duconge in his MBRS SC2 pilot research award (Grant# SC2HL110393, NHLBI-NIH). Based on my backgrounds in the field, I am highly qualified to provide support as a consultant in this project and, consequently, help Dr. Duconge accomplishing his major goals. My 20 year career as an innovator in the biomedical industry and advocate of personalized medicine includes experience as a leading executive in personalized healthcare and translational medicine. I served as President and Chief Scientific Officer of Genaissance Pharmaceuticals, which I founded in 1997 and led to a $90M NASDAQ public offering in 2000 and to several R&D partnerships in the pharmaceutical and diagnostic industries. In my entrepreneurial career, I have developed systems for DNA-guided medicine based on genomics and clinical informatics. I have been principal investigator for SBIR grants totaling $12M from NIH, NSF and DOE. I am the inventor of the CAS System (U.S. patent 5,427,911) for the rapid determination of DNA sequence variation, which is now distributed worldwide by Siemens Medical for clinical management of viral infectious diseases. I was the founding Senior Editor of the journal Personalized Medicine and founding Director of the Personalized Medicine Coalition in Washington, D.C. I have served on joint FDA and pharmaceutical industry committees for Genomic Data Submission as part of regulatory review of product applications.

 

 

Dr. Abiel Roche-Lima