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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 … 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 …
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 … …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… and genomic markers are increasingly included in cancer screening, and to guide tailored treatment strategies. … It … Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In Genomics, Genomic Technology … Genomic …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… DNA Sequencing, Epigenomics, Knockout Mice, Newborn Screening, Cost Of Sequencing A Human Genome, X Chromosome, Y …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… genes. The Burgess group developed new techniques for high-throughput identification of retroviral integration sites, … over which genes are inactivated. As a result, targeted screening in a vertebrate is now possible for the first time, …