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News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… In a new large-scale genetic analysis, scientists have found a set of small … Large-scale genetic analysis shows microRNAs in human pancreas … In a new large-scale genetic analysis, National Institutes of Health (NIH) … In a new large-scale genetic analysis, National Institutes of Health …
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 … Newborn Screening, Genetic Disorder, Family Health History, Genetic … Newborn screening is a set of laboratory tests performed on newborn … is two or three days old. In the United States, newborn screening is mandatory for a defined set of genetic diseases, …
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 … 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 … occur during childhood.Almost all of the current newborn screening tests use a dried blood sample collected during the …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… in 1993. At the NHGRI, Dr. Elkahloun started applying large scale screening methods to identify genes associated with … A, Lee MJ, Trepel J, Ferrer M, Pacak K. High-throughput screening for the identification of new therapeutic options … Abdel Elkahloun, large-scale screening methods, microarray technology, …
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 … Carrier screening involves testing to see if a person “carries” a … gene, one from each parent. Most typically, carrier screening is performed to look for recessively inherited …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… and phenotype. The Genomic Variation Program supports large-scale studies of human genetic variation as part of projects … program supports many studies developing data analysis methods for how to relate variation to traits, diseases, and … (SNPs), indels, and other forms of genetic variation on a large scale across the genome. Developing high-resolution …
Health
The Method for Introducing a New Competency: Genomics (MINC) Toolkit assists those interested in integrating genomics into their practice.
Event
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs. The purpose of these NOFOs is to implement and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a primary care setting.
… Welcome Overview of the Population Genomic Screening Discussion … a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021 , … and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a …
Event
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.
… meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. This meeting discussed the current state of population genomic screening in the U.S., as well as barriers and opportunities for expanded population screening, impact on clinical practice and outcomes, various …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… in prenatal blood tests warrant whole-body MRI cancer screening. … blood draw, they have quickly become routine in pregnancy screening. Each year, around two million pregnant people in … which is then detected by the prenatal testing methods. While there are guidelines for clinicians to order …