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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. … In the fall of 2022, Erica felt like she was on … blood draw, they have quickly become routine in pregnancy screening. Each year, around two million pregnant people in … 107 participants with abnormal or inconclusive prenatal screening results that might indicate the presence of cancer. …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… association study of LDL response to statins using high-throughput electronic health records analysis 4113F Elizabeth … – 11:45 a.m.  Session Title: Translating Genetics into Screening Programs Moderator, Teri Manolio Room 401 Colorado …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing services to the NIH intramural … medicine Upcoming Webcasts October 10: Population Genomic Screening in Primary Care Pre-Application Webinar October …
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.
… in Review Testing and managing iron overload after genetic screening-identified hemochromatosis Actionable genotypes and … 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 …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… disability and other serious problems. Women who have high levels of phenylalanine during pregnancy are at high risk for having babies born with mental disability, … in 1 in 10,000 to 1 in 15,000 newborn babies. Newborn screening has been used to detect PKU since the 1960's. As a …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… to individual blood samples and take hours to prepare. The high cost of current testing has prohibited newborn screening on a population-wide basis. To make screening for all newborns affordable, an automated screening …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… of venous thrombosis. The diagnosis is made using a screening test called a coagulation screening test or by … with an anticoagulant during periods of particularly high risk, such as major surgery. Factor V Leiden increases … Having two copies of the mutation may raise the risk as high as 1 in 12. Additional Resources for Factor V Leiden …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental … with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental … eye (nystagmus); and all or partial loss of vision due to high pressure of the fluid in the eye (glaucoma). Genital and …