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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 potential drug therapies for a rare, genetic … 'empty the trash' that accumulated because of the genetic deficiency of the enzyme," said Ellen Sidransky, M.D., senior …
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… To keep NHGRI’s website, genome.gov , at the cutting edge, the NHGRI Office of Communications recently implemented some new features that … in Genomics (ISCC-PEG) Scholars Program applications are due on September 1, 2023. The ISCC-PEG is a collaborative …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… She completed her medical training from the University of Maryland in Baltimore; residency in pediatrics from the … on brain development and harnessing this knowledge to optimize clinical care for children with … cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A …
15 Ways Genomics Influences Our World
Genomics is empowering farmers to improve the food supply.
… Genomics is empowering farmers to improve the food supply. … Did you know that in … breeding practices that have been in use for thousands of years? The ability to read genome sequences coupled with … Rice see it as a potential tool for fighting vitamin A deficiency and saving lives. In 2015, they were given the " …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… studies have identified many genetic variants related to disease and have highlighted the need to further explore initial findings in non-European … ( RFA HG-12-010  and RFA HG-12-015 ). The first phase of PAGE examined putative causal genetic variants across …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… and Screening Technology laboratory within the Division of Pre-Clinical Innovation at NCATS. His postdoctoral … disease foundations as an effective collaborative bridge to NCATS' expertise and resources, enabling a champion-driven … Examples under investigation include α1 antitrypsin deficiency caused by protein aggregation-inducing mutations …
File
… Discovery, Across A rchitectures, Across designs Structure of Biology of Biology of Science of Effectiveness of Genomes … Create Virtuous Cycle bet. Clinic and Discovery Big Need to Enable Capture, Interpretability, and Analysis of World’s … changes in capacity (for example, large increases due to identification of new opportunities, as well as …
Policy Issues
Participar en una investigación genómica es una oportunidad para apoyar la exploración cientÃfica del genoma.
… los Institutos Nacionales de la Salud (National Institutes of Health, NIH) en su misión de entender, prevenir, detectar …
News Release
Supporting early career investigators at the cutting edge of genomics.
… Supporting early career investigators at the cutting edge of genomics … The Genomic Innovator Awards will provide funding to six institutions as detailed below, to support early career researchers studying genome biology, …
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… Mosaicism … Mosaicism refers to the presence of cells in a person that have a different genome from the … from the body’s other cells. This difference could be due to a specific genomic variant, for example, or the …