Search Results
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
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… Reproductive Prenatal Neonatal Health Workshop - Meeting Summary …
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… Reproductive Prenatal Neonatal Health Workshop - Executive Summary …
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… risk of disease, identifying carriers and establishing prenatal and clinical diagnosis or prognosis.” Includes: Prenatal, newborn and carrier screening Testing in high risk families Excludes: Tests …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… genome sequencing has not been used for this screening. The recent advances in DNA sequencing technologies … interest in the use of genome sequencing as a newborn screening tool, but more research in this area was needed. … genome sequencing replicate or augment existing newborn screening methods? Would genome sequencing provide insights …
Fact Sheets
Las anomalías cromosómicas pueden heredarse de uno de los padres (tal como una translocación) o ser "de novo" (nueva al individuo).
… las dos muestras difieran. Actualmente existe una prueba prenatal que no es no traumática para la madre o el bebé. …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… germline cells of one of the parents (testes or ovaries). Prenatal testing for Marfan syndrome is available when the …
Policy Issues
Hay leyes y políticas que sirven para proteger la privacidad de la información genómica de un individuo.
… la Evaluación del Recién Nacido que Salva Vidas ( Newborn Screening Saves Lives Reauthorization Act ) apoya los …
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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… Concept Clearance: Population Screening in Primary Care …