Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Video
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… researchers identify an altered gene that causes Pendred Syndrome, a inherited form of deafness. 1998 March 1998: Vice … of human chromosome 21, already known to be involved with Down syndrome, Alzheimer's disease, Usher syndrome and Lou … using the "working draft" sequence data, is able to pin down the gene within weeks; before, the same work took …
Educational Resources
A lysosome is a membrane-bound cell organelle that contains digestive enzymes. Lysosomes are involved with various cell processes.
… are involved with various cell processes. They break down excess or worn-out cell parts. They may be used to …
The Genomics Landscape
In April 6, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how NHGRI will hold a symposium on National DNA Day, April 25, highlighting relevant and interesting topics in genomics and concluding with the annual Louise M. Slaughter National DNA Day Lecture.
… Researchers study enhanced genetic animal model of Down syndrome Extremely rare gene variants point to a potential …
Educational Resources
Gregor Mendel was an Austrian monk who in the 19th century worked out the basic laws of inheritance, even before the term "gene" had been coined.
… pea plants, discovering how characteristics are passed down from one generation to the next — namely, dominant and …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… all body cells to produce new DNA. This enzyme also breaks down toxic metabolites that otherwise accumulate to harmful …
Educational Resources
Mendelian inheritance refers to certain patterns of how traits are passed from parents to offspring.
… of how traits (such as color and shape) are passed down from one generation to the next introduced the concept …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… is involved in the biological steps that help break down food, fats, cholesterol and amino acids. MMUT helps break down food into a chemical byproduct called propionate, which … chose to assess how well the MMUT protein helped break down propionate in both patients who did and not did not …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… … A person's genetic makeup affects how their body breaks down certain medicines. Genetic testing can examine certain … enzymes in a person to find out how their body breaks down and removes medicines from the body. Because these liver … less active in some people, they are less able to break down and get rid of some medicines. This can lead to serious …
Fact Sheets
Las anomalÃas cromosómicas pueden heredarse de uno de los padres (tal como una translocación) o ser "de novo" (nueva al individuo). ​
… afección causada por anomalÃas numéricas es el sÃndrome de Down, el cual se caracteriza por retraso mental y otros problemas. Un individuo con sÃndrome de Down tiene tres copias del cromosoma 21 en lugar de dos; por …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular … Albinism Alkaptonuria Study of Alkaptonuria Alstrom Syndrome Clinical and Molecular Investigations into … Disease and Congenital Hepatic Firbrosis Bardet-Biedl Syndrome Clinical and Molecular Investigations into …