Search Results
Policy Issues
The Genome Statute and Legislation Database is comprised of state statutes and bills introduced during U.S. state legislative sessions.
… insurance coverage, privacy, research, the use of residual newborn screening specimens and other topics of interest. Definitions …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… of information across platforms. Introduce the concept of newborn screening in developing nations for the early detection of … in cytogenetics, molecular genetics, biochemical genetics, newborn screening, pharmacogenomics, sequencing, clinical …
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… managed grants and contracts comprising the Hunter Kelly Newborn Screening Research Program and was a Project Scientist for … program. … Minear MA , Phillips MN, Kau A, Parisi MA. Newborn screening research sponsored by the NIH: From …
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 …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… born in the United States and can be detected through newborn screening. Children with MMA suffer from frequent …
File
… GMXV - Genomic Sequencing in Public Health Newborn Screening — Hopes and Challenges (Robert Currier) …
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 …
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 - …
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 …
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 …