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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 …
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… are those related to improved and cost-effective genomic screening for hereditary breast and ovarian cancer, non-invasive prenatal screening, reliability of electronic health records, and …
Educational Resources
A birth defect is an abnormality present at birth.
… at birth. Birth defects can be caused by genetic factors, prenatal events during pregnancy or a combination of both. …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… Enlargement of the baby's kidneys may be seen on a prenatal ultrasound. The eye problems (aniridia) are usually …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… testing, such as for cancer [see Cancer Genomics ] and prenatal screening [see NIPT ] in which a healthcare provider orders …
Event
Opening remarks from Eric Green, Christopher Donohue and Michael Rembis.
… are ever-present, where, for example, omnipresent prenatal screening and diagnosis as well as emerging gene-editing … or cultural constraints, but simply availability of screening technologies. As others will no doubt emphasize …
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
… Genomic sequencing to aid diagnosis in pediatric and prenatal practice: Examining clinical utility, ethical … coverage, and data integration in a diverse population. Prenatal and pediatric undiagnosed developmental disorders … of research results from samples obtained for newborn screening R21 University of California, San Francisco Gloria …