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Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… investigators have discovered disease genes and identified small molecules to treat inherited diseases and malignancies. …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… inside your food create some of the most important molecules in your cells. Scientists are looking at how not … enough of some vitamins can affect one of these essential molecules, DNA. “You need to create more DNA if you're going … the differences the researchers saw in humans were very small. We’ve often thought of nutrient status as important …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… proteins, called histones. Without such packaging, DNA molecules would be too long to fit inside cells. For example, if all of the DNA molecules in a single human cell were unwound from their … father. The pattern of inheritance is different for the small circular chromosome found in mitochondria. Only egg …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Gaucher disease and parkinsonism and the development of small molecule chaperones as therapy for Gaucher disease and … the NIH Chemical Genomics Center, hundred-thousands of small molecules were screened, leading to the discovery of …
Educational Resource
A step-by-step printable guide for folding a transfer RNA (tRNA) paper model.
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 …