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Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… on the clinical management of rare diseases and trials of small molecule therapies for genetic disorders, diseases that …
Fact Sheets
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cell.
… dye.DNA is composed of two strands of complementary molecules that bind to each other like chemical magnets. … type of probe is useful when scientists have isolated a small portion of a gene and want to determine on which …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… inflammation and the production of inflammation-related molecules. In contrast, FMF patients produce abnormal pyrin …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2021.
… Development for Research and Clinical Application 15 Small Business Program NHGRI Small Business Program Website PA-20-025 - Development of … Analysis of Single Cells (SBIR) (R43/R44) NOT-EB-21-001 - Small Business Initiatives for Innovative Diagnostic …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… form spool-like structures that enable DNA's very long molecules to be wound up neatly into chromosomes inside the … inherited from the mother and one from the father. For a small number of genes, only the copy from the mother gets …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… patients. They discovered a problem in the processing of a small protein, ubiquitin, which is critical to the regulation … of many other proteins in the body, including immune molecules. In the affected children, the inability to remove the ubiquitin proteins from various molecules resulted in an increased production of chemical …
Educational Resources
Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions.
… energy produced by the mitochondria is stored in a small molecule called adenosine triphosphate (ATP). Mitochondria contain their own small chromosomes. Generally, mitochondria, and therefore …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2022.
… Genome Technology Development Website and Registration 21 Small Business Program Small Business Program Website NIH-funded Startups are …
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
… in genes like BRCA1 and BRCA2 . The chip consists of a small glass plate encased in plastic. Some companies … the two complementary strands of DNA into single-stranded molecules. The next step is to cut the long strands of DNA …
Genomics Teaching Tool
An activity that demonstrates how DNA can be isolated from a strawberry using common household items.