Search Results
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the National Human Genome … In 2010, she moved to Bethesda, Maryland in pursuit of research experience. Having aligned herself with Dr. Dan Kastner at the National Institutes of Health, she has focused her research in the field of …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… on genetic and rare diseases among the millions of online sources is a difficult task for almost everyone. We … As Internet users quickly discover, an enormous amount of health information is available online. The material … treatment. This material does not represent an endorsement of any specific tests and products by the National Human …
Community Outreach
NHGRI is proud to help support the PBS documentary, “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D.
… “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D. The Gene … a journey through key genetics discoveries that are some of the greatest achievements in the history of science. … This free, print-on-demand exhibit consists of graphic panels and interactive media. It can be adapted to …
Research Funding
The Division of Extramural Operations conducts the review of NHGRI's grant applications and grants management.
… The Division of Extramural Operations ensures the integrity of the Institute's grants-making mission, including conducting the review of grant applications and grants management. … The Division of Extramural Operations supervises the various operational aspects of NHGRI's Extramural Research Program. In accomplishing this …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… and their association with lifespan in Iceland 3. Impact of digitally enhanced genetic results disclosure in diverse … inherited retinal disease with gene editing 7. Validation of a clinical breast cancer risk assessment tool for all … cancer from routine whole-genome sequencing 10. Clinical signatures of genetic epilepsies precede diagnosis in …
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
… studies are increasingly integral to the advancement of a spectrum of disease-based research. As knowledge stemming from the completion of … help advance understanding about how to harness the power of genomics to improve health. Those participants would join …
Fact Sheets
Un estudio de asociación en todo el genoma es un enfoque que incluye el escaneo o búsqueda rápida de marcadores en todos los conjuntos completos de ADN.
… una parte de la Biblioteca Nacional de Medicina ( National Library of Medicine ) del NIH, está creando bases de datos que pueda … de Asociación Genética ( Genetic Association Information Network , GAIN), para financiar estudios de asociación en …
Research Funding
The EMERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.
… Current Network Participants … integration GRA development/harmonization Integration of validated PRS into GRA Return & management of risk recommendations EHR Workflow & Infrastructure Robert … Wei-Qi Wei and Chunhua Weng Capture data across the Network Phenotypic data refreshes Retrospective/AnVIL cloud …
Fact Sheet
A fact sheet detailing how the project began and how it shaped the future of research and technology.
… by the Human Genome Project was actually a patchwork of multiple people whose identities were intentionally made … to protect their privacy. However, the majority of the sequence came from one person of blended ancestry. Specifically, 70 percent of the original …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… As a growing number of medical centers and laboratories are sequencing patients' DNA, they continue to uncover millions of DNA differences in genes and the regions between the genes. But doctors have struggled to know which of these inherited differences - variants - really matter. …