Search Results
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… received abnormal or non-reportable non-invasive prenatal testing (NIPT) results. had a follow-up test (an ultrasound … Women . J Clin Oncol ., August 1, 2022 … Amy Turriff, M.S. Genetic Counselor Email: turriffa@mail.nih.gov Phone: (301) …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
… Genetic Imprinting … In genomic imprinting the ability of a … upon the sex of the parent who passed on the gene. … Genetic Imprinting, DNA Sequence, Genes, Family Health …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to … reproductive technologies and pre-implantation genetic testing. The training program is open to those who have …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … Content … Facial recognition software helps diagnose rare genetic disease … NHGRI researchers have successfully used …
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 …
Event
On December 7, 2022, NHGRI will host a webinar to discuss key findings from the Human Genetics and Genomics Workforce Survey Report.
… primary areas of work for employed respondents include genetic counseling, research and academia. Women made up the …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model … NHGRI senior historian. “As cognitive treatments based on genetic models become more feasible in the future, …  … About NHGRI and NIH … Researchers study enhanced genetic animal model of Down syndrome … NIH researchers …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… the fetal transcriptome to develop new therapies for genetic disorders that can be given prenatally. Dr. Bianchi … of fetal cell microchimerism and noninvasive prenatal testing using DNA sequencing of fetal and placental DNA … pathways that are affected by these different genetic, developmental and environmental conditions, and …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… included a new name: the Talking Glossary of Genomic and Genetic Terms . First launched in 1998, the talking glossary … . To date, the new Talking Glossary of Genomic and Genetic Terms has 222 terms, of which 142 have new … over the five days will include direct-to-consumer genetic testing, pharmacogenomics, cancer genomics and nursing, and …