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Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… an individual or family. … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… have Down syndrome. It is recommended that thyroid level testing be performed at least yearly. Some infants with Down … infants. … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… cells lining the airways of lungs. Researchers are now testing aerosol delivery using nebulizers. But finding the … to conceive or whether to have a fetus tested for CF. Prenatal testing for CF can be done around the 11th week of … Since CF cannot be treated before birth, the purpose of prenatal testing is to prepare parents to care for a baby …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… diseases; genomic information privacy; communication about prenatal and newborn genomic testing results; and the impact of genomics in American … of Utah in Salt Lake City are expanding on research on prenatal testing already supported by NHGRI. A grant for …
Fact Sheet
Genomic research has been central to understanding and combating the SARS-CoV-2 (COVID-19) pandemic.
… in the sample to be detected. … How does COVID-19 PCR testing work? COVID-19 testing uses a modified version of PCR called quantitative … amount of genetic material from SARS-CoV-2. …  …   The testing process begins when healthcare workers collect …
Outreach
15 examples of how genomics has and continues to transform our world in myriad ways.
… Genomics Impact On Society, Cancer Genomics, Genomic Testing, Enhanced Forensics, Genome Editing, Prenatal Genetic Testing, Rare Genetic Diseases … 15 examples of how genomics …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn screening is testing performed on newborn babies to detect a wide variety … to detect a set of known genetic diseases. Typically, this testing is performed on a blood sample obtained from a heel … or preventing disease. … Newborn genetic screening is testing performed on newborn babies to detect a wide variety …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
Research at NHGRI
The NHGRI Office of Laboratory Animal Medicine promotes the humane care and use of animals in biomedical and behavioral research, teaching, and testing.
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… in biomedical and behavioral research, teaching, and testing. … Because animals are an essential component of the … in biomedical and behavioral research, teaching, and testing. … The NHGRI Office of Laboratory Animal Medicine … in biomedical and behavioral research, teaching, and testing. ​ … Research at NHGRI …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… and clinicians are beginning to offer patients genomic testing for a list of treatable diseases apart from the … His sister and her children decided to go through genomic testing and discovered that they also shared the same RET … to that condition is called a primary finding. But when testing reveals information separate from the original …