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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 …
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 …
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 …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… Jeannine Mjoseth … Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic … false-positive results. … Women often request noninvasive screening tests to detect genetic conditions. These tests, … risk of serious complications were those with very high levels of abnormal cells in the placenta," said Mark D. …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… At the NHGRI, Dr. Elkahloun started applying large scale screening methods to identify genes associated with … Patel N, Elkahloun A, Lee MJ, Trepel J, Ferrer M, Pacak K. High-throughput screening for the identification of new …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… help identify fetuses that have certain diseases. Newborn screening is used to test babies one or two days after birth … assess responses to treatments. … Genetic Testing, Newborn Screening, Diagnosing A Genetic Condition, Genetic Disease … …
Careers and Training
Frequently Asked Questions about the Genetic Counseling Training Program.
… Johns Hopkins University, Genetic Training, Newborn Screening, Genetic Testing … Frequently Asked Questions about …