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Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study … and is interested in joining the study, please call our research assistant at 301-443-6160. They will ask you a few … CLINSEQ®? Possible benefits to you may include: Free clinical testing, such as testing for cholesterol and …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … At the National Institutes of Health, we are interested in research. Although we are happy to provide advice for people … of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional policies, … findings, remain incompletely understood. Furthermore, research is needed to assess and improve the current …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see  … study is to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations and their …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… Medical and research centers are increasingly sequencing patient exomes … information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of variant information is the lack of openly …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human Genome Research …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new health-related … law regarding return of genetic IRRs and IFs is the  Clinical Laboratory Improvement Amendments of 1988 (CLIA) , …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Alcohol Use Disorders Biomedical Informatics Cardiology Clinical Pharmacology and Therapeutics for Senior Medical … Medical Genetics Medical Oncology Neuro-Oncology Neurology/Clinical Neuroscience … Neurosurgery Otolaryngology—Head and … Oncology Transfusion Medicine Translational Addiction Research Urologic Oncology … The NIH Clinical Electives …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective … implementation, diffusion, and sustainability in diverse clinical settings. The first phase of the network,  IGNITE I … of Chicago Mary Relling, PharmD, St. Jude Children’s Research Hospital Jordan Smoller, MD, ScD, Massachusetts …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: Rex L. Chisholm, Ph.D. … Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making Be Different? Presenter: …