Search Results
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes and centers (ICs). Program Officer contact information is also included.
… equitable access to gene therapies. Genomic sequencing and newborn screening: Real and perceived benefits and harms of genomic sequencing of newborns. Impact of newborn sequencing on families/caregivers, healthcare …
NEWS RELEASE
Cristina Kapustij, M.S., was named chief of the NHGRI's Policy and Program Analysis Branch.
… Health cooperative research grant titled, "Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening." She directed policy responses to …
Policy Issues
Hay leyes y polÃticas que sirven para proteger la privacidad de la información genómica de un individuo.
… de la Evaluación del Recién Nacido que Salva Vidas  ( Newborn Screening Saves Lives Reauthorization Act ) apoya los …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
…  Obtain a family history to assist with early screening detection of genetic conditions or health habits … clinical practice and potential interventions (e.g., newborn screening tests).  Obtaining genomic information … conditions and the associated prognosis.  Recognize newborn risk for morbidity and mortality based upon …
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 ( …
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 …
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 …
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 …