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Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… James Inglese directs the Assay Development and Screening Technology laboratory within the Division of … conference of the Society of Laboratory Automation and Screening. Inglese also serves as a scientific advisor to NIH-funded chemistry and screening centers, disease foundations, and international …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening … Down syndrome (also called Trisomy 21) is a …
Policies and Guidance
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Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, Mosaic Down …
Educational Resources
A proband is an individual being studied or reported on.
… reported on. … Birth Defect, Inherited, Carrier, Carrier Screening, Genetic Testing, Genetic Counseling, Pedigree, …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… information privacy; communication about prenatal and newborn genomic testing results; and the impact of genomics … to study how family members communicate about prenatal and newborn screening, including how test results and risks are …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… two new research centers, including a Model Organisms Screening Center and a Metabolomics Core, as part of the NIH … addition to two DNA sequencing centers, a Model Organisms Screening Center, a Metabolomics Core, a central … diseases at the NIH Clinical Center. Model Organisms Screening Center At the Model Organisms Screening Center, …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… Review 1. Testing and managing iron overload after genetic screening-identified hemochromatosis 2. Actionable genotypes … disease risk Maternal-only noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian … newborns for whole-genome sequencing Population genomic screening for common hereditary conditions may be cost …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Facilitating the Implementation of Population-wide Genomic Screening across Diverse Populations and Settings (FOCUS) … of North Carolina at Chapel Hill Age-Based Genomic Screening in Newborns, Infants and Children: A Novel Paradigm … San Francisco Toward DNA Sequencing as a Primary Newborn Screen for Treatable Disorders Not Amenable to …