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… $2M for Phase II • Seek sign-on from other ICs • NHGRI is small player in proteomics –1-2% of NIH 7 Mechanisms and …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… much DNA can be packed into a cell’s nucleus, which is so small it can only be seen with a specialized microscope. The … … Not entirely. Genomes are complicated, and while a small number of your traits are mainly controlled by one …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… being developed, such as gene therapy and the use of small molecules. By improving our understanding of these disorders … with skeletal disorders, we hope to better understand molecules and pathways that influence skeletal growth and …
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.
… of Gaucher disease. Researchers then tested a small molecule compound on the damaged cells, which resulted … correction of the cell malfunction. They identified the small molecule compound through high-throughput screening, which tests hundreds of thousands of small molecule chemicals concurrently in order to find …
Fact Sheet
Genomic research has been central to understanding and combating the SARS-CoV-2 (COVID-19) pandemic.
…  Primers attach to the end of these strands. Primers are small pieces of DNA designed to only connect to a genetic … in research and clinical practices to amplify, or copy, small segments of genetic material. PCR is sometimes called …
Media Advisory
NHGRI hosts a Reddit AMA with Jennifer Doudna, Ph.D., and her research group.
… is a customizable tool that lets scientists cut and insert small pieces of DNA at precise areas along a DNA strand. This … is a customizable tool that lets scientists cut and insert small pieces of DNA at precise areas along a DNA strand. Who: …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… organisms that breathe underwater, develop from an egg so small it is barely visible to the naked eye and are striped … uses genome-editing technology to intentionally introduce small insertions or deletions in genes, making them …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… direct the activities of nearly all living organisms. DNA molecules are made of two twisting, paired strands, often … a ribosome, and the information is used to link together small molecules called amino acids in the right order to form … of a disease. The disease-causing change may be as small as the substitution, deletion, or addition of a single …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… gene to a specific point in the cell's DNA. AAVs are small viruses that infect humans but do not cause disease. A … Mir341 that codes for a microRNA molecule. MicroRNAs are small, non-coding RNA molecules involved in the regulation of gene expression. When …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… the pore. Nanopores used in DNA sequencing are extremely small, perhaps only about 2 nanometers wide, and come in … of physical DNA. Microfluidics can be used to capture small amounts of liquid in hair-thin channels and wells. … Akeson, Ph.D. Investigators plan to sequence single DNA molecules by using a nanopore device comprised of a sensor …