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News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… in the United States and can be detected through newborn screening. Children with MMA suffer from frequent …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… will be on the forefront of managing prenatal whole genome screening," Mr. Berkman said. "Our research will hopefully …
News Release
My Family Health Portrait is a downloadable tool to complete a family health history on a personal computer.
NEWS RELEASE
Cristina Kapustij, M.S., was named chief of the NHGRI's Policy and Program Analysis Branch.
… policy and legislation to the institute during a time when high profile policy issues related to the application of … of Newborn Blood Spot DNA to Improve and Expand Newborn Screening." She directed policy responses to potential …
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… & Objectives: Employers’ perspective on preemptive genomic screening in employee wellness Moderators: Geoff Ginsburg …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… cancer risk assessment, pharmacogenomics, carrier screening,DTC interpretation/validation, on the primary care …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… in different risk categories and provide beneficial screening strategies and treatments. Ideally, in the future …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… how family members communicate about prenatal and newborn screening, including how test results and risks are …
News Release
More research must be done to understand the interactions of ancient genes with modern environments.
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.