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15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… in the United States. One scary example of such an adverse reaction is Stevens-Johnson syndrome (SJS), a severe allergic reaction also called "scalded skin syndrome." It can be … to say, anything we can do to prevent this allergic reaction is vitally important. In Taiwan, married scientists …
Fact Sheet
Genomic research has been central to understanding and combating the SARS-CoV-2 (COVID-19) pandemic.
… and combating the SARS-CoV-2 (COVID-19) pandemic.  Polymerase chain reaction (PCR) is a laboratory technique that uses selective …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… syrup urine disease Fatty acid oxidation defects Medium chain acyl-CoA dehydrogenase deficiency, carnitine palmitoyl transferase 1 deficiency, long chain hydroxyacyl-CoA dehydrogenase deficiency Amino …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… be the only sign of the problem. A specific genetic test (polymerase chain reaction [PCR]) can now be performed to diagnose fragile X …
News Release
NIH lost a key member of its broader genomics team when Robert Blakesley, Ph.D., director of the NISC sequencing group at NIH, retired on Dec. 31, 2015.
… reagents (compounds added to a system to cause a chemical reaction, or added to see if a reaction occurs) in order to study the kinetic and physical …
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… in 82 of the 83 genes. In screening embryos by fluorescent polymerase chain reaction (a technology that allows researchers to produce …
15 Ways Genomics Influences Our World
Advances in genomics are reducing the cost of genome sequencing by a million-fold.
Fact Sheet
Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.
News Release
Researchers at NHGRI have discovered an immune mechanism in humans that perceives threats and was found only in plants.
… Under normal physiological conditions, RhoA starts a chain reaction that results in an inhibitory protein binding to … though, they paralyze the RhoA, which prevents the whole chain from happening and, like a grenade, the body explodes …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… to the genomics revolution. Kary Mullis, inventor of the polymerase chain reaction (PCR) and Nobel Prize winner, passed away last …