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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.
… They identified the small molecule compound through high-throughput screening, which tests hundreds of thousands of small …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… Achieving our goals requires innovative and, at times, high-risk strategies that utilize a wide range of genomic, genetic, computational, and high-throughput methodologies. Our ability to rapidly pursue …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… The stakes for identifying variants that matter can be high. "Mistakes are happening in the clinic based on … can potentially lead to misdiagnoses and unnecessary screening tests and treatments, including surgery. At the … New analytical, predictive modeling methods and high-throughput DNA sequencing technologies are needed to improve …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… Jeannine Mjoseth … With assistance from a high tech robot, National Institutes of Health researchers … GBA1 break down cellular waste. In a process known as high-throughput drug screening, researchers at NCATS Chemical Genomics Center …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… at once is becoming increasingly possible with advances in high-throughput technologies and data science. The integration of … processed at the omics production center, which will use high-throughput molecular assays to generate genomic, …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
… between mammalian and zebrafish hematopoiesis. Using a high-throughput reverse genetic screening system they generated a fish line carrying a …
Staff
Jyoti Dayal is a program officer in the Division of Genomic Medicine, National Human Genome Research Institute (NHGRI)
… Research Institute (NHGRI). Jyoti spent 17 years in a high-throughput DNA sequencing lab at the NIH Intramural …
Staff
Stacie Anderson is an associate director in the Office of Scientific Core Facilities and is also the director of the Flow Cytometry Core.
… goal of providing all NHGRI investigators with access to high quality flow cytometry services to enhance the scope and … transcription profiles including scRNAseq, as well as high throughput screening of enhancer regions. … Gomez-Rodriguez J, Wohlfert …
Research Funding
The Knockout Mouse Phenotyping Project (KOMP2) collaborates with the International Mouse Phenotyping Consortium (IMPC) to knockout and characterize all protein-coding genes in the mouse genome.
… Data acquisition, integration, analysis and translation of high throughput mammalian phenotyping data HG006370 … The Knockout … the IMPC to additionally phenotype at least 1,200 of 3,000 high-priority genes known to exist in both humans and mice. …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
… offers several advantages, such as external fertilization, high fecundity, optically transparent embryos, rapid embryo … and implementation of new approaches to increase the throughput and quality of core services while reducing cost. … assays. Recently, the core has developed efficient screening methods for generation of zebrafish models with …