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The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… advocacy groups to identify how information from this screening can better help patients prepare, identifying …
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… Received). 2017 - 2018. 6. Deniz E (PI). Genome -Wide Screening With CRISPR/Cas9 and Modelling of Resistance … Muthukumarasamy P (PI). The uptake of amniocentesis for prenatal diagnosis and its implications in Turkey and … of the effect of genetic literacy on the utilization of prenatal screening test in pregnant women. E) Other …
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… In May 2013, ACMG published its ÒStatement on noninvasive prenatal screening (NIPS) for fetal aneuploidyÓ, clearly delineating … in the drafting of HR 3441, the ÒAccurate Education for Prenatal Screenings Act.Ó Introduced in August, this bill …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… who attended the December 13-14, 2010 meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. … component projects specifically applicable to newborn screening: Acquisition and analysis of genomic datasets that … of specific disorders identifiable via newborn screening through promising new DNA-based analysis. Research …
News Release
NIH scientists proposed a new approach for finding ways to impede or halt cancer's spread: transgenic zebrafish as a live animal model of metastasis.
… identify new genetic targets against the disease. Current screening of possible anti-metastasis compounds is based on … cell lines in laboratory dishes. Such high-throughput screening has identified thousands of drug candidates over … to generally practiced forms of high- throughput screening," he said. In the current study, Dr. Gallardo and …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… or whether to have a fetus tested for thalassemia. Prenatal testing can be done around the 11th week of …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Pennsylvania 1:20 p.m. to 1:40 p.m. — Making Disability in Prenatal Genetic Testing Meghna Mukherjee, University of …
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… Reproductive Prenatal Neonatal Health Workshop - Meeting Summary …
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… Reproductive Prenatal Neonatal Health Workshop - Executive Summary …