South Asia Rheumatic Heart Disease Genetics Network Data Access Committee
Ontology highlight
ABSTRACT:
PROVIDER: EGAC00001001161 | EGA |
REPOSITORIES: EGA
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Project description:Rheumatic heart disease (RHD) is a major cause of cardiovascular death and disability amongst young adults. Building on a sample collection established for and genotyped in several earlier successful candidate gene studies, this case-control study investigated host genetic susceptibility to RHD using a genome-wide approach. The current dataset comprises over 850 individuals recruited in Uttar Pradesh, India, including cases of RHD based on echocardiographic diagnosis and controls recruited on the basis of normal echocardiograms. For this analysis all available samples were genotyped using the Illumina HumanCore-24 BeadChip platform. Efforts are now underway to establish new sample collections in other areas of India as well as Pakistan and later other neighbouring countries.
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Project description:The Genetic Association Information Network (GAIN) Data Access Committee was established in June 2007 to provide prompt and fair access to data from six genome-wide association studies through the database of Genotypes and Phenotypes (dbGaP). Of 945 project requests received through 2011, 749 (79%) have been approved; median receipt-to-approval time decreased from 14 days in 2007 to 8 days in 2011. Over half (54%) of the proposed research uses were for GAIN-specific phenotypes; other uses were for method development (26%) and adding controls to other studies (17%). Eight data-management incidents, defined as compromises of any of the data-use conditions, occurred among nine approved users; most were procedural violations, and none violated participant confidentiality. Over 5 years of experience with GAIN data access has demonstrated substantial use of GAIN data by investigators from academic, nonprofit, and for-profit institutions with relatively few and contained policy violations. The availability of GAIN data has allowed for advances in both the understanding of the genetic underpinnings of mental-health disorders, diabetes, and psoriasis and the development and refinement of statistical methods for identifying genetic and environmental factors related to complex common diseases.
| S-EPMC3617375 | biostudies-literature
Project description:Data Access Committee EGAC00001000506
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Project description:Heart failure (HF) is an emerging public health problem due to increasing hospitalisations, readmissions and direct healthcare costs. Transitional care (TC) aims to improve multidisciplinary care coordination in HF and provides a streamlined strategy to ensure discharge success. This article reviews the different TC models and interventions in HF, and compares their strengths, weaknesses and efficacies. Notably, a nurse-led TC model under the direct administration of a dedicated multidisciplinary team appears to be the superior model of care. The emerging use of remote technology to track patient progress adds value, as human resources are scarce. Several knowledge gaps are highlighted in this article. The authors share their local institutional TC experience and discuss its early impact on HF care.
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Project description:Limited arterial vascular access precluded necessary transcatheter intervention in a 22-year-old woman with repaired interrupted aortic arch type B. Alternative transcaval vascular access enabled percutaneous therapy. This practice evolution is likely to benefit the growing numbers of adults with congenital heart disease. (Level of Difficulty: Advanced.).
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Project description:Data Access Committee EGAC00001001613
| EGAC00001001613 | EGA
Project description:South Asians (SAs) are at heightened risk for cardiovascular disease as compared to other ethnic groups, facing premature and more severe coronary artery disease, and decreased insulin sensitivity. This disease burden can only be partially explained by conventional risk factors, suggesting the need for a specific cardiovascular risk profile for SAs. Current research, as explored through a comprehensive literature review, suggests the existence of population specific genetic risk factors such as lipoprotein(a), as well as population specific gene modulating factors. This review catalogues the available research on cardiovascular disease and genetics, anthropometry, and pathophysiology, and cancer genetics among SAs, with a geographical focus on the U.S. A tailored risk profile will hinge upon population customized classification and treatment guidelines, informed by continued research.
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Project description:Congenital heart disease is the most common birth defect, and because of major advances in medical and surgical management, there are now more adults living with congenital heart disease (CHD) than children. Until recently, the cause of the majority of CHD was unknown. Advances in genomic technologies have discovered the genetic causes of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. This review will focus on the evidence for genetic causes underlying CHD and discuss data supporting both monogenic and complex genetic mechanisms underlying CHD. The discoveries from CHD genetic studies draw attention to biological pathways that simultaneously open the door to a better understanding of cardiac development and affect clinical care of patients with CHD. Finally, we address clinical genetic evaluation of patients and families affected by CHD.
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Project description:South Asia has experienced a 73% increase in healthy life years lost due to ischemic heart disease between 1990 and 2010. There is a lack of quality data relating to cardiovascular risk factors and disease from this region. Several observational and prospective cohorts in South Asia have been established in recent times to evaluate the burden of cardiovascular disease and their risk factors. The Prospective Rural Urban Epidemiology (PURE) study is the largest of these studies that has provided data on social, environmental, behavioral and biologic risk factors that influence heart disease and diabetes. Some studies have also borrowed data from large datasets to provide meaningful insights. These studies have allowed a better understanding of cardiovascular disease risk factors indigenous to the South Asian population along with conventional risk factors. Culturally sensitive interventions geared towards treating risk factors identified in these studies are needed to fully realize the true potential of these epidemiologic studies.
| S-EPMC6204454 | biostudies-literature
Project description:Data Access Committee EGAC00001003011
| EGAC00001003011 | EGA