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 …
Media Advisory
The National Institutes of Health (NIH) will host researchers from the Telomere-to-Telomere (T2T) consortium, who have now sequenced the remaining 8% of DNA that was unable to be sequenced by the Human Genome Project and has eluded researchers for nearly two decades.
… will host researchers from the Telomere-to-Telomere (T2T) consortium, who have now sequenced the remaining 8% of DNA … for nearly two decades. The National Human Genome Research Institute (NHGRI) will host a press conference in … What: Virtual press conference to announce T2T consortium sequencing a complete human genome Moderator: Eric Green, …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… The National Human Genome Research institute funded the GREGoR Consortium in 2021. The … gene was not identified by solely using whole exome sequencing. The DCC will manage data release and disseminate … RFA-HG-20-007 : Mendelian Genomics Research Centers (U01 - Clinical Trial Optional)  RFA-HG-20-008: Mendelian Genomics …
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 … Julie C. Sapp, Sc.M.  ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study  Katie Lewis, Sc.M. …
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 …