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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 … and international chemical biology consortia. … High throughput technologies enable assays of biochemical, …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… disorder. Dr. Stewart is leading a project which uses new high-throughput sequencing technologies to identify, catalog and … tumor-predisposition disorders, neurofibromatosis, high-throughput sequencing technologies … Dr. Douglas Stewart …
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 of disorders. … Newborn Screening, Genetic Disorder, Family Health History, Genetic …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. High-throughput custom capture sequencing identifies novel … … James Thomas, NIH Intramural Sequencing Center (NISC), high-throughput sequencing, comparative genomics, data …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… Newborn screening tests use a dried blood sample collected during the … characteristic that is indicative of a disease). … Newborn screening in the United States is a major public health … has saved countless lives. Each state runs its own newborn screening program, where almost all newborns are tested for …
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing … DNA biorepositories, electronic medical record (EMR), high-throughput genetic research, genomic medicine … Dr. Robb …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… Carrier Screening … Carrier screening is a genetic test performed on people who display … Alleles, Inheritance, Family Health History … Carrier screening involves testing to see if a person “carries” a …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… cost-effective, minimal-risk options for prenatal genetic screening and diagnosis for various conditions (variations) … potential benefits than established prenatal and newborn screening programs. Although the individual and public … are clear, scholars have long debated whether screening and sequencing technologies also perpetuate …
FAQ
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021, RFA-HG-24-022, and RFA-HG-24-023. These FAQs contain questions answered during that webinar.
… reporting of secondary findings not included in the screening protocol at the end of the study as consistent with … the services will be offered also in Spanish? Offering screening in Spanish is a possibility to be discussed by the … to all three elements (a, b, and c) to participate in the screening, or is it possible for them to proceed with testing …
… Genetic Screening … Genetic screening is the process of testing a population for a …