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The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… across the United States on top of the illness, death, and physical isolation that we have been experiencing … the COVID-19 pandemic, including those at the Centers for Disease Control and Prevention (CDC) and NIH . For NIH … on increasing the diversity of the next generation of genomic researchers. The NHGRI Diversity Action Plan (DAP) …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare … Juvianee I. Estrada-Veras, M.D., clinical investigator and staff clinician in NHGRI's Medical Biochemical Genetics …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National Center for Advancing Translational Sciences … of the disease: Type 1 causes enlargement of the liver and spleen, a low number of red blood cells, easy bruising …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… Jeannine Mjoseth … For many years, Tonya and Cody Hanson's parents didn't know what caused their … misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … Thirty-five years later, researchers have identified the genomic mutations responsible for CFZS (<a …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
… we are updating the way we manage data related to the NIH Genomic Data Sharing Policy to again allow unrestricted … tool for helping researchers determine which genomic variants potentially contribute to a disease or disorder. … … we decided that while we assess the state of the science and any potential risks to research participants, NIH …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… Genomics is altering a genome with unparalleled efficiency and precision. … Did you know that in the 15 years since we … be to "edit" that genome  - perhaps to cure a genetic disease or to alter the a trait in a plant or animal. … introduce mutations at the wrong sites rather than the genomic location being targeted. Many scientists are working …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending available … models to examine how differences in the DNA code - called variants - can cause a disease. Scientists at the center, led … in UDN patients with information about the patients' genomic make-up and results from various medical tests. Taken …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this finding …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… is likely the case for many of your organizations, NHGRI and NIH are starting to bring some of our staff back to the … politicians, ambassadors, scientists, company executives, disease advocates, and journalists gathered to celebrate a … (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… It is imperative that patients with sickle cell disease who are considering gene therapy fully understand the meaning and limitations of treatments so they can make an informed … to participate. Patients need accessible, understandable, and actionable educational materials to help them make such …