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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 … practice and potential interventions (e.g., newborn screening tests).  Obtaining genomic information about a … clinics.  Specialty clinics.  Subspecialty clinics.  Prenatal and reproductive centers.  Inpatient settings.  …
Staff
Dr. Sara Chandros Hull is a co-deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
… and Berkman BE. Views of American OB/GYNs on the ethics of prenatal whole genome sequencing. Prenatal Diagnosis, 36(13):1250-1256 . 2016. [ PubMed ] … ] Leib JR, Gollust SE, Hull SC , Wilfond BS. Carrier Screening Panels for Ashkenazi Jews: Is More Better? Genetics …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… DNA from the fetus. However, SCID is so rare that prenatal testing of a baby with no family history is probably … 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 …
Event
On November 1-5, 2023, 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.Â
… Petcharat Leoyklang Cell-based functional assays for screening of drug candidates for Free Sialic Acid Storage … study: A prospective evaluation of pregnant women with prenatal cfDNA sequencing results that suggest maternal …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… have access to more than twenty-five adult, pediatric, prenatal and specialty genetic clinical training sites in the … Genetics  Marcia Ferguson, M.G.C. Amy Kimball, M.S.  Prenatal Genetics  Adrienne Chase, M.G.C. Amy Kimball, M.S. Greater Washington Maternal and Fetal Medicine Prenatal Diagnosis  Shanda Berry, M.G.C. Lorena Dujmusic, …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… (Clinical Genetic Testing) 2129F. Marta Biderman Waberski: Prenatal presentation of an inherited chromosome 6p22. 3 microdeletion, encompassing the JARID2 gene. (Prenatal, Perinatal and Reproductive Genetics) 2274F. Irini …
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.
… access to gene therapies. Genomic sequencing and newborn screening: Real and perceived benefits and harms of genomic … and the impact on family members, especially from prenatal, newborn, or pediatric sequencing. Informed consent … carrier status, preimplantation selection of embryos, and prenatal and/or newborn risk assessment. Considerations for …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… 2016-2019) This center is expanding on research on prenatal testing already supported by NHGRI. It is dedicated to studying how family members communicate about prenatal and newborn screening, including how test results and risks are …
The Genomics Landscape
In the August 2018 edition of The Genomics Landscape, NHGRI Director Eric Green announces the recent launch of the NHGRI Genomic Innovator Award.
… DNA Sequencing Potentially Could Reduce Need for Invasive Prenatal Diagnostic Procedures The First Detailed Map of Red …
Talking Glossary
La prueba de ADN extracelular en un método de laboratorio en el que se analiza el ADN extracelular (es decir, no celular) de una muestra biológica, casi siempre en busca de variantes genómicas asociadas con un trastorno hereditario o genético.
… with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used …