Search Results
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… available at the National Institutes of Health (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era in medicine … Undiagnosed Disease, Gene Mutation, Gene Variation, DNA Sequencing, Clinical Trials, Human Research Subjects … NHGRI …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Kaegi … Ten intramural investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center through awards …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… The National Human Genome Research Institute (NHGRI) sponsored the meeting eMERGE & CSER: The Convergence of Genomics and Medicine at the … for the implementation of genomic sequence data into clinical care, as well as research that combines …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… trains students to conduct social, behavior and policy research in the field of genetic counseling and provides clinical rotations for students to learn directly about … Diseases Clinical Genomics Program  Centralized Sequencing Program Morgani Similuk, Sc.M., Ph.D. Sarah …
Event
Agenda and video for the eMERGE & CSER: Genomics and Medicine Steering Committee Meeting on January 17, 2019.
… Bethesda 1 Bethesda Metro Center Regency I/II … eMERGE & CSER: Genomics and Medicine Steering Committee Meeting … Agenda and video for the eMERGE & CSER: Genomics and Medicine Steering Committee Meeting on January 17, 2019. … Agenda and video for the eMERGE & CSER: Genomics and Medicine Steering Committee Meeting on …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… … 1. Review of data We will review your de-identified sequencing data to look for possible secondary findings. All … Genomic Variant Confirmation (CRIS) for confirmation of research findings. … 4. Confirmation and genetic counseling … that variants in 59 genes be returned to people undergoing clinical sequencing - this is frequently referred to as the …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… a research portfolio focused on epidemiology and genome sequencing, which included grants in the Clinical Sequencing Exploratory Research (CSER) program. She then moved to NHGRI …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… mutations and variations and ranks them according to their clinical and biological relevance to a patient's cancer. … … Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human Genome …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary Genomics Findings Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will annotate de-identified research …