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News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… by members of the Electronic Medical Records and Genomics (eMERGE) Network. eMERGE is supported by the National Human … The major goal of eMERGE is to better understand disease risk and susceptibility and, ultimately, improve patient … patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in …
Administrative
The Intramural Administrative Management Branch provides administrative management support to the NHGRI Division of Intramural Research.
… The Intramural Administrative Management Branch (IAMB) provides administrative management … inventory, human resources, workforce planning, and other related areas. In order to provide these services … the IAMB works in partnership with senior administrators and the National Institutes of Health scientific community in …
Event
Agenda and video for the eMERGE & CSER: Genomics and Medicine Steering Committee Meeting on January 17, 2019.
… Regency 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 …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… be used as a framework for publishing studies on polygenic risk scores. … Scientists and healthcare providers are beginning to use a new approach … for ClinGen, deputy director of the NHGRI Division of Genomic Medicine and co-author of the paper. "With the field …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… developed a new statistical model that can predict the risk for developing diseases by combining information from family members about their family health history and lifestyle factors. … Published in March in the … model using family health history to improve disease risk assessment … Researchers at the National Human Genome …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
… Risk … Risk, in the context of genetics, refers to the probability … Gene Environment Interaction, Inherited, Susceptibility … Risk, as related to genetics, refers to the probability that … heritable or genetic disorder. Both a person’s genome and environmental exposures can influence risk. An …
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… of people who use the workbook discuss their disease risks and health history with family members. … Researchers at the … Health (NIH), have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Steven Benowitz … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National … The Gateway replaces what had previously been a paper-and-mail application process for the NIH Undiagnosed Diseases … Anastasia Wise, Ph.D., program director, NHGRI Division of Genomic Medicine and co-coordinator for the NIH Common Fund's …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… in diseases across different populations. A “ polygenic risk score ” is one way by which people can learn about their … two classes: those that are associated with a single gene and those that are influenced by multiple genes and … making each of us unique. These differences, called genomic variants, occur at specific locations within the DNA. …
The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… that the year is going to be a very busy one for NHGRI and for the field of genomics more generally. Many of us felt … ( PA-19-056 ). … The effective date for the new NIH Data Management and Sharing (DMS) Policy occurred last month – … them. Given the strong commitment of NHGRI researchers to genomic data sharing, the institute believes that the …