21 research outputs found

    GA4GH: International policies and standards for data sharing across genomic research and healthcare.

    Get PDF
    The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits

    53 Hrs Of Sleep Deprivation On Catecholamine Responses During Multiple Stages Of Acute Cold Exposure: 2475: Board #83 June 4 8:00 AM - 9:30 AM

    No full text
    BACKGROUND: Increases in sympathetic nervous system stimulation are associated with alterations in hormonal responses. While research has demonstrated that circulating epinephrine (EPI) and norepinephrine (NE) levels are increased in response to acute cold exposure in an attempt to maintain core body temperature (Tcore), the hormonal responses to sleep deprivation remain poorly understood. Exposure to a cold environment in conjunction with sleep deprivation may alter hormonal release and regulation; thereby altering physiological functions i.e., maintenance of Tcore. PURPOSE: To evaluate the effects of 53-hrs of sleep deprivation on the catecholamine responses of apparently healthy Caucasian males during multiple bouts of acute cold exposure. METHODS: Eight apparently healthy, young (22.8 ± 1.7 y), Caucasian males participated in two experimental trials [control (CON) or sleep deprivation (SDEP)] during which they were exposed to cold air (10°C) for 120-min, once per day, for 3 consecutive days (Stages 1, 2, and 3). Venous blood samples were taken at baseline (0-min) and 120-min during Stages 1 and 3 of ACE. RESULTS: The mixed regression model was utilized to examine changes in EPI and NE across time, as well as to determine the potential of EPI and NE concentrations to predict Tcore responses during ACE for both conditions (SDEP, CON). There were no significant increases in EPI or NE across time. Furthermore, the random effects model revealed that neither EPI (p=0.210) nor NE (p=0.521) significantly predicted Tcore. CONCLUSION: While EPI and NE concentrations were slightly altered during cold exposure for both conditions, the contribution of each stressor on the catecholamine responses is uncertain. Furthermore, the ability of EPI and NE concentrations to predict Tcore remains unclear and warrants further investigation
    corecore