Search Results
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… whole genome and RNAseq data, and analysis of tissue- and cell-type specific gene expression at different stages of …
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.
… spleen, bone marrow and nervous system. The main type of cell that is affected by accumulated glucocerebroside is the macrophage, a type of white blood cell. Macrophages are cellular housekeepers that dispose of cell debris and pathogens. According to the study, …
Talking Glossary
Methylation is a chemical modification of DNA and other molecules that may be retained as cells divide to make more cells. regulating the production of proteins that the gene encodes.
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… asked patients, parents and physicians in the sickle cell disease community what they wanted and needed to know … treatments, which appear to provide a potential for sickle cell, are among the most widely publicized medical advances … of the Bioethics Core at NHGRI. “By talking to sickle cell disease stakeholders ahead of time, we can learn more …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… developing cancer is not the same for each RUNX1patient. Analyses across many RUNX1 families show that some have 10% … practice. For example, the number of your different blood cell types, their structure and functionality can all be … meaning they happened after birth and originated in one cell that divided and created daughter cells, but such …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from … Scientists gave this name to chromosomes because they are cell structures, or bodies, that are strongly stained by some … cells. For example, if all of the DNA molecules in a single human cell were unwound from their histones and placed …
Educational Resources
The genome is the entire set of genetic instructions found in a cell.
… is the entire set of genetic instructions found in a cell. … The genome is the entire set of DNA instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes located in the cell’s nucleus, as well as a small chromosome in the cell’s …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… These included some well-known conditions, such as sickle cell anemia, cystic fibrosis and Marfan syndrome, as well as …
For Teachers
A microbiome is all of the genetic material found in a microbe, such as a bacterium, fungal cell or virus.
… material found in a microbe, such as a bacterium, fungal cell or virus. It also may refer to the genetic material … material found in a microbe, such as a bacterium, fungal cell or virus. ​ … material found in a microbe, such as a bacterium, fungal cell or virus. …
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.
… a ladder-like structure, RNA is often, but not always, single-stranded.  These structural differences help these … DNA, and this information helps the RNA do its job in the cell.  This process, where a gene produces RNA molecules, … transcribed from genes in the nucleus , the part of the cell that contains the genome. The mRNAs then travel out of …