Search Results
Research Training
The Graduate Partnerships Program develops future scientists by providing opportunities to perform research in NHGRI laboratories.
… Partnerships Program fosters the professional development of future scientists by providing the opportunity to perform research in National Human Genome Research Institute (NHGRI) … an integral part of their academic training. Eligibility for the GPP depends on whether the graduate student is …
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.
… investigators at the NIH Clinical Center in early 2019. For more information, see Protocol 19-HG-0059  or … to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations and their … as those acquired in the blood, confer a higher risk than other mutations? Can secondary mutations help us understand …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… This webpage discusses genomics-relevant considerations for informed consent and provides guidance on how to approach … about the risks and benefits of participating in a research project. … The informed consent process and consent … data and health information will be stored and shared with other researchers. The samples and information will be …
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… The Center for Genomics and Data Science Research focuses on the … in the course of laboratory and clinical studies, with members actively involved in efforts aimed at developing new …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… a path towards collaborative, community-driven genomics research. … In August 2020 the Centers for Disease Control and Prevention identified that Indigenous … three groups: Alaska Native tribal leadership and other representatives of tribal health organizations, …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… Raymond MacDougall … A team from the National Institutes of Health has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National Center for …
News Release
An online Informed Consent Resource created in 2009 by NHGRI has been updated to keep pace with advances in genomics over the past several years
… integral to the advancement of a spectrum of disease-based research. As knowledge stemming from the completion of the … join thousands already enrolled or being recruited to join other research studies. "The contribution of research … policy landscape have contributed to new considerations for consent in genomic research," said Kate Saylor, health …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… The team's discovery coincides with findings by an Israeli research group that identified an overlapping set of variants … only recently available, facilitated a molecular diagnosis for patients in their study. The researchers found that … such as the ability to walk, can be relearned. "While no other incidence of this condition occurred in the families …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… findings, remain incompletely understood. Furthermore, research is needed to assess and improve the current … guide the development and dissemination of best practices for the integration of clinical sequencing into clinical … Wynn  and  Sarah Scollon Mission: Discuss site-specific experiences with issues related to genetic counseling. Work …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… We will review your de-identified sequencing data to look for possible secondary findings. All findings are considered … Genomic Variant Confirmation (CRIS) for confirmation of research findings. … 4. Confirmation and genetic counseling … sample was processed in a CLIA certified lab. DNA from any other source cannot be processed for confirmation of …