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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 …
Educational Resources
A centimorgan (abbreviated cM) is a unit used to measure genetic linkage.
… Centimorgan (cM) … A centimorgan is a unit used to measure genetic linkage. … Linkage Analysis, Genetics, … Fruit Flies … A centimorgan (abbreviated cM) is a unit of measure for the frequency of genetic recombination. One … on a chromosome will become separated from one another due to a recombination event during meiosis (which occurs …
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 …
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. 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 …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… Applications UDN does not accept all applicants due to the complex nature of the body and the diseases being investigated. …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… 2:30 – 4:30 p.m. Anas Awan Phenome-wide association study of MTHFR variant in UK Biobank and All of Us 1086W Amy Bentley G6PD deficiency masks the diagnosis of abnormal glucose tolerance: … of frequency criteria for secondary findings genes to improve classification concordance 3069W Brynja …
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 …