Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
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 …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… is born with MMA, which is now detected by routine newborn screening. Despite current treatments, the disorder can cause … patients with isolated MMA. CblC patients - who also have high levels of methymalonic acid and homocysteine in their … patients. In addition, these medical foods' relatively high leucine content may block methionine and other amino …
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 … Puerto Rican female: Peggy Reproductive Issues: Newborn screening in an older pregnant Asian female: Dai Cystic …
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.
… and family risk information. Follow risk-based screening guidelines. Nurse practitioners may also request … if an individual is at risk of developing a condition. Screening to identify the need for preventive therapy. … for patient health. Improving health outcomes (determine screening timing and intervals). Maintaining and …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… and ancestry around the world. "In Nigeria, there is a high rate of genetic malformations due to a high fertility rate," said Ms. Iriele. "This atlas is … don't have the infrastructure or resources for genetic screening." This summer, Ms. Iriele focused on patients with …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… Her father took the test, and his results revealed a high percentage of Jewish ancestry. Surprised by these … mastectomy with doctors or pursue enhanced breast cancer screening. Morris reached out to the Genomic Services … all of the outcomes of genomic testing. Those who sought screening, prevention or treatment speak of improved …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… stops making and/or stops responding to insulin, causing high blood sugar levels. Over time, high blood sugar levels can damage organs and lead to … BEAN refines an existing approach called base editing screening, in which researchers create and study the …
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.
… Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion …
Community Outreach
NHGRI is proud to help support the PBS documentary, “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D.
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… to individual blood samples and take hours to prepare. The high cost of current testing has prohibited newborn screening on a population-wide basis. To make screening for all newborns affordable, an automated screening …