Precision Medicine Activities
Research Making a Difference
Research Making a Difference
![Health professional adminstering a blood pressure reading with a patient in a chair.](/congress115th/20181203183301im_/https://www.nhlbi.nih.gov/sites/default/files/styles/16x9_crop/public/2017-11/Precision%20Medicince%20Activities_1.jpg?itok=ACZW9j6B)
The Precision Medicine Initiative, which launched in 2015, is a bold research effort to revolutionize how we improve health and treat disease. A key element of this effort, the National Institutes of Health’s (NIH’s) All of Us Research Program, will collect data from one million or more people living in the United States to help study a range of health issues and diseases. In 2016, Congress passed the 21st Century Cures Act, which provides additional support for the Precision Medicine Initiative.
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- The NHLBI designed the Trans-Omics for Precision Medicine (TOPMed) program to complement the NIH All of Us Research Program and Precision Medicine Initiative.
- To support the TOPMed program, the NHLBI’s Whole Genome Sequencing (WGS) project has sequenced over 90,000 genomes and aims to sequence more than 120,000.
In 2016, the NHLBI released its Strategic Vision, which will guide the Institute’s research activities for the coming decade. Many of the objectives, compelling questions, and critical challenges identified in the plan focus on precision medicine. For example, studying basic biology will help us to better define health and understand the earliest origins of disease processes. Our research will leverage new technologies and advances in data science to provide insights into the prevention and precise treatment of heart, lung, blood, and sleep disorders. Our research will also investigate health differences among populations in order to develop more targeted treatment and prevention strategies and reduce health disparities.
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Advancing the Research
The NHLBI is advancing precision medicine in many ways. Learn about some of NHLBI’s efforts to support research on precision medicine.
We Perform Research
The NHLBI’s Division of Intramural Research studies diseases that affect the heart, blood vessels, and lungs and is actively engaged in research relevant to precision medicine activities, such as how genes, environment, and lifestyle contribute to cardiovascular disease and how genes affect response to treatment.
We Fund Research
The research we fund today will help improve our future health. Many NHLBI Divisions, such as the Center for Translation Research and Implementation Science, the Division of Cardiovascular Sciences, the Division of Blood Diseases and Resources, and the Division of Lung Diseases, are helping fund research to advance NHLBI precision medicine activities for heart, lung, blood, and sleep disorders.
The Promise of Precision Medicine
Through NHLBI’s Trans-Omics for Precision Medicine (TOPMed) program, researchers will use data from studies focused on heart, lung, blood and sleep disorders to better predict, prevent, diagnose, and treat sleep disorders based on a patient’s unique genes, environment, and molecular signatures.
Empowering Data Science for Scientific Discovery
The NHLBI Data Storage, Toolspace, Access, and analytics for biG-data Empowerment Resource (Data STAGE) is a cloud-based platform that will offer cohort and phenotype searches, as well as secure workspaces to share, store, cross-link, and compute on large datasets. The goal is to enhance access to data from NHLBI-affiliated studies on a platform that builds on the cloud-based infrastructure of the NIH Data Commons and with the aim to enable novel scientific research.
Providing Tools to Foster Collaborative Research
The PhenX Toolkit is an online catalog of standard measures of phenotypes and exposures for use in genome-wide association studies and other biomedical research. The toolkit’s standard measures can help researchers collaborate and combine study data to further precision medicine research.
Providing Data on Genotype and Phenotype Interaction for Precision Medicine Research
TOPMed researchers have started releasing Whole Genome Sequencing Project data through the NIH Database of Genotypes and Phenotypes (dbGaP). The dbGaP was developed to archive and distribute data from studies that have investigated the interaction of genotype and phenotype, including all genome-wide association studies supported by the NIH.