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Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… integration of environmental exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … will utilize high-throughput molecular assays to produce: genomic, epigenomic, transcriptomic, proteomic, and …
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 …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… Last month, Dr. Sara Hull (NHGRI Bioethics Core Director) and I answered questions about bioethics and genomics … of the central challenges in biology is understanding how genomic variation affects genome function to influence … two decades, researchers have cataloged numerous genomic variants that may play a role in human disease. However, …