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For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases. ​
… Finding accurate and reliable information on genetic and rare diseases among the millions … users quickly discover, an enormous amount of health information is available online. The material provided is for … or usefulness of the opinions, advice, services, or other information provided. Moreover, we strongly recommend that …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was created in 2002 by the …
Policy Issues
The GINA is an important U.S. civil rights law that protects individuals from discrimination based on their genetic information.
… The Genetic Information Nondiscrimination Act, commonly known as GINA, is … individuals from discrimination based on their genetic information. It was first introduced into the U.S. Congress … prohibits health insurers from using someone's genetic information to refuse insurance or charge higher prices, and …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… … Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed illnesses - … and career development at sites nationwide. Additional information about NHGRI can be found at www.genome.gov . … and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov . … …
Event
On Tuesday, December 17, 2024, ASHG and NHGRI co-host an informational webinar about Post-Baccalaureate Genomics Analyst Fellowship program for potential applications.
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… risk score webpage , which provides graphical and textual information about polygenic risk scores and more! … diabetes, and depression. Such methods take into account information about variants across a person’s genome, … Director on human gene editing: 'We must never allow our technology to eclipse our humanity' Genome: Unlocking Life's …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… to NIH intramural researchers for exploration of genotype information through the relatively new Reverse Phenotyping … on earth!     …   Claire Driscoll, director of NHGRI's Technology Transfer Office (TTO), often exhorts one of her … NHGRI program officers, their expertise, and their contact information, or specifically search by scientific area. … …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… an emerging medical discipline that involves using genomic information about an individual as part of their clinical … to conduct and then analyze, and because disseminating information and educating healthcare workers about a new … Testing, Newborn Screening, Privacy In Genomics, Genomic Technology … Genomic medicine involves using genomic …
The Genomics Landscape
In the May 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details how NIH is ramping up research on COVID-19; NHGRI's expansion of its Genome Technology Program; and the the DiY Genome: Unlocking Life's Code exhibition toolkit.
… genomic studies have the potential to yield valuable information that will aid efforts to prevent, diagnose, … related to bioethics, the use of electronic health record information, population tracking, genetic epidemiology, and … and commercialization of rapid diagnostic testing technology for COVID-19. The initiative is designed to …
The Genomics Landscape
In the December 3, 2020 edition of The Genomics Landscape, Dr. Eric Green spotlights on ELSIhub.
… beyond. The platform includes a wealth of ELSI research information. Key features include ELSI literature resources, an ELSI scholar directory, information on ELSI-relevant funding opportunities, and an … more broadly available. The policy includes supplemental information on data management and sharing costs and data …