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News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… two new research centers, including a Model Organisms Screening Center and a Metabolomics Core, as part of the NIH … addition to two DNA sequencing centers, a Model Organisms Screening Center, a Metabolomics Core, a central … diseases at the NIH Clinical Center. Model Organisms Screening Center At the Model Organisms Screening Center, …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… DNA Sequencing, Epigenomics, Knockout Mice, Newborn Screening, Cost Of Sequencing A Human Genome, X Chromosome, Y …
News Release
The Genomics and Society: Expanding the ELSI Universe conference focused on issues arising from the ethical, legal and social implications of genomic research.
… Communications and Public Liaison Branch … From prenatal genetic screening to the genetic testing of women with family …
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.
… of inherited disease risk Maternal-only noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian … susceptibility Belgian model for universal non-invasive prenatal screening Electronic health records reliably predict …
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… Project (HGP) and, more recently, advances in genomic screening technologies, there is some concern about whether … an increasing amount of genomic information in the prenatal setting would lead to new societal pressures to … genetic diagnoses. The possible genomic-based screening of embryos for behavioral, psychosocial and/or …
Event
We invite scholars to submit ideas to be one of six to seven speakers at our symposium, “Irreducible Subjects: Disability and Genomics in the Past, Present, and Future”, with an additional opportunity to join a collected set of papers on the same theme.
… scholars have argued (sometimes strenuously) that prenatal selection against genetic “impairments” is overly … All of this must be balanced with clear evidence that prenatal screening, newborn genome sequencing, clinical genomic …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib treatment Speaker, Shaima Raji Abdul … – 11:45 a.m. Session Title: Translating Genetics into Screening Programs Moderator, Teri Manolio Room 401 Colorado …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… two samples differ. One such method is called noninvasive prenatal testing. This is a test to screen a pregnancy to …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… they may be motivated to consider the professionals’ screening and intervention recommendations. DTC-GT often … considering future pregnancy, they may consider seeing a prenatal genetic counselor or other genetics professional to … status and inheritance of the variant. Preconception or prenatal testing can be considered if the patient is pregnant …
The Genomics Landscape
In the May 5, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., pays tribute to one of NHGRI’s founding staff members and current leaders, Bettie Graham, Ph.D., as she reached a truly remarkable milestone: 50 years of service in the federal government.
… convene an expert panel entitled "Does genetic and genomic screening keep open the door to eugenics?" on May 25 to … scientific racism in the context of genetic and genomic screening technologies. Emerging genome-sequencing … surrounding preimplantation genetic diagnosis, noninvasive prenatal genetic testing, and newborn DNA sequencing in the …