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News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… of Null Alleles in Cells program will first look at protein-coding genes … The National Institutes of Health is … of funds. Phase 1 of the program will focus on 1,000 protein-coding genes and serve as a pilot phase and has three … null alleles. In the absence of making its functional protein, a given gene’s function can be more readily deduced …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… trigger the assembly of new molecules, such as a fat or protein, turn genes on and off, or spur a cell to move. … For … the cell might direct the cell to produce a particular protein inside the cell. In turn, that protein may be a signal that prompts the cell to move.  … …
Educational Resource
A step-by-step printable guide for folding a transfer RNA (tRNA) paper model.
… as links between the messenger RNA (mRNA) and the growing protein molecule. The mRNA is read out in sets of three … that the appropriate amino acid is added onto the new protein. tRNAs fold into a distinct L-shape that helps them … to carry the amino acid that needs to be added to the new protein. There are 20 different amino acids used in the human …
File
… for RFA Technology Development for Single -Molecule Protein Sequencing Purpose: T he purpose of this initiative … development and early dissemination of single-molecule protein sequencing (SMPS) technologies. The ultimate g oal is … R01 2 4 6 4 2 R21 0.5 1 1 0.5 SBIR 1 2 2 2 1 Total 3.5 7 9 6.5 3 Total Cost in millions Grand Total = $29M … Concept …
File
… Clearance: Technology Development for Single-Molecule Protein Sequencing • Accelerate innovation and development in single- molecule protein sequencing (SMPS) • Achieve tech advances to the … to $7M /yr thank you Mike Smith Questions / Discussion 9 … Technology Development for Single-Molecule Protein …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… a likely causal gene that encodes the metabolizing protein. These findings provide new insights with relevance … RFA-HG-21-001, Technology development for single-molecule protein sequencing (R01) & RFA-HG-21-002, Technology development for single-molecule protein sequencing (R21) Intent to publish a funding …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… about three hours per exome to analyze an individual's protein-coding genes. … The UDP is part of the Undiagnosed …
Infographic
Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual features to better understand human health and disease.
… the X chromosome, and while the X chromosome has about 900 protein coding genes, the Y chromosome has just around 100 protein coding genes. That’s the fewest genes of any … One of the genes on the Y chromosome is the SRY gene . The protein produced by this gene turns on a set of other genes …
The Genomics Landscape
In the June 2024 issue of The Genomics Landscape, NHGRI Director Eric Green recognizes the 2023 recipients of the Bettie J. Graham Leadership Award for Enhancing DEIA in the Genomics Workforce.
… how they used a machine learning tool to characterize protein misfolding, how this misfolding might lead to … misfolding of other proteins, and alpha-1-antitrypsin, a protein associated with lung and liver disease. The machine …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… team also helped to identify the lysosomal transmembrane protein whose mutation results in Niemann-Pick disease, type …