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News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Diseases Network (UDN), a clinical research initiative of the National Institutes of Health (NIH), has opened an online patient application … Anastasia Wise, Ph.D., program director, NHGRI Division of Genomic Medicine and co-coordinator for the NIH Common Fund's …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … A major focus of … contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse systems to …
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.
… Raymond MacDougall … A team from the National Institutes of Health has surmounted a major obstacle to testing … therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … infusions, administered intravenously on a regular basis. However, this infused form of the enzyme cannot cross …
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.
… Eric Green, M.D., Ph.D. … This issue of The Genomics Landscape  comes at an especially difficult … 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
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… … "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said … These variants may point to the cause of the patient's disease. In an NHGRI-funded study published in the NEJM last … implements technology to understand, diagnose and treat genomic and genetic diseases. The NHGRI Extramural Research …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… Jeannine Mjoseth … For the first time, National Institutes of Health (NIH) researchers have demonstrated in mice that … correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
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.
… David Conti, Alaina Vidmar, Tanya Alderete University of Southern California Longitudinal integration of … 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 … world, were published in Blood Advances . … "The discovery of new genes associated with ECD provides hope for improving the diagnoses of a disease that affects so many parts of the body. We also …
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.
… to have weak facial muscles, cleft palates and curvature of the spine. Nor did they know what produced the phlegm that … 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 …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… we have decoded (that is, read out) the genome sequence of an organism, a logical next step would 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 …