Search Results
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 … Andrea Gropman, M.D. Meira Meltzer, M.S. Genetics and IVF Prenatal Diagnosis Mary Sands, M.S. Jennifer Weiss, M.S. … Genetics  Marcia Ferguson, M.G.C. Amy Kimball, M.S.  Prenatal Genetics  Marcia Ferguson, M.G.C. Amy Kimball, M.S. …
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 …
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 …
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 …
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 …
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 …
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 …