Search Results
Research at NHGRI
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
… LM. Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion …
Policy Issues
NHGRI has created the IDE Greenhouse as an educational resource to help increase understanding of the regulation in the genomics context.
… and stakeholders. Three studies from the NHGRI Newborn Sequencing in Genomic Medicine and Public Health ( …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
Policy Issues
There are laws and policies that serve to protect the privacy of individuals' genomic information.
… residual de-identified blood spots taken as part of the newborn screening public health program to conduct epidemiological, … for the research use of de-identified blood spots from newborn screening. Revisions to the Common Rule in 2018 …
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 … diagnosis, noninvasive prenatal genetic testing, and newborn DNA sequencing in the context of eugenics and …
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… in a Caucasian male: Jeff with wife Maria Colon cancer screening in a Hispanic male: Luis Familial adenomatous … polyposis testing in an Ashkenazi Jewish male: Gabe Cancer screening incidental findings in an African American male … an adult Puerto Rican female: Peggy  Reproductive Issues: Newborn screening in an older pregnant Asian female: Dai …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… nerve cells. Dr. Tifft is also working to improve genetic screening tests for newborns. Current genetic screening programs detect up to around 70 conditions, … — like GM1 gangliosidosis — are not included in the screening process. With an earlier diagnosis and new …
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… (GENEVA) Implementing Genomics in Practice (IGNITE) Newborn Sequencing in Genomic Medicine and Public Health … 12-13, 2024 Genomic Medicine XV: Genomics and Population Screening November 8-9, 2023 Genomic Medicine XIV: Genomic … Expiration Date: February 12, 2025 2024 Population Genomic Screening in Primary Care Cooperative Agreement (U01 - …
File
… GMXV - Genomic Sequencing in Public Health Newborn Screening — Hopes and Challenges (Robert Currier) …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… rare diseases. Other researchers are studying its use in screening newborns for disease and disease risk. Moreover, …