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News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… biomarker analyses, as well as a new Model Organisms Screening Center at Washington University in St. Louis … core at Baylor College of Medicine and the model organism screening center at Baylor College of Medicine and the … collaboration and supports a series of exceptionally high-impact, trans-NIH programs. Common Fund programs are …
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 …
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… are those related to improved and cost-effective genomic screening for hereditary breast and ovarian cancer, non-invasive prenatal screening, reliability of electronic health records, and importance of population screening. Some of the selected papers also reflect emerging …
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… in the blood. Next steps Dr. Elnitski will next begin screening blood samples from patients with bladder, breast, … cancer is required, it would be less intrusive than other screening approaches like colonoscopies and mammograms and it could be used to follow individuals at high risk for cancer or to monitor the activity of a tumor …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… are more likely to recommend observing kidney function and screening for diabetes in response to the patient’s symptoms …
The Genomics Landscape
In the February 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the December 2021 NHGRI symposium's success in confronting the difficult pasts of eugenics and scientific racism.
… and reproduction, disability, LGBTQ+ individuals, genetic screening, social and behavior genomics, and legacies of … arising from existing and emerging genetic and genomic screening technologies; (2) the promises and perils of social … outside academic experts to examine the topics of genomic screening, social genomics, and disability. Video recordings …
News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… ordeal. What followed the next day was an eye infection, a high fever and rash; then a downward spiral with severe … up empty In 2014, Thai researchers reported that they were screening patients in the hospital for risky genetic variants … defined for specific drugs, then those could be used as a screening mechanism before an individual is exposed to a …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… they included 41 in the review. Researchers found a high-strength of evidence of increased risk for pulmonary …
The Genomics Landscape
In the September 1, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., focuses on the NHGRI History of Genomics Program's preservation of historical assets related to the field of genomics as it celebrates its 10th anniversary.
… for a virtual meeting entitled " Does genetic and genomic screening keep open the door to eugenics? " to discuss … it easier for educators and current practitioners to find high-quality resources for group instruction or self-directed … the 2022 Short Course in genomics for middle school, high school, community college, and tribal college science …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… collaborative, and supportive environment. I had high risk projects that were supported so I didn't have to …