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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell … disease are now available from researchers at the National Human Genome Research Institute (NHGRI), part of the National … and to be curative at the DNA level by altering the genes that play a role in sickle cell disease. “The number of …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement … Parkinson's disease (PD) is a neurological condition that typically … This genetic material comes in individual units called genes. We all have thousands of genes. Genes carry the …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), part of the NIH, … that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to … To date, this is the first study to use postmortem human brain tissue to investigate ADHD. Other approaches to …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome … pain that can be severe and sometimes debilitating. Dercum disease is a chronic condition, meaning that it is a long …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and provides clues about which chromosome contains the … lies on that chromosome. … Among the main goals of the Human Genome Project (HGP) was to develop new, better and …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… new insights into the organization and regulation of our genes and genome … The Encyclopedia of DNA Elements (ENCODE) … Project is a worldwide effort to understand how the human genome functions. With the completion of its latest … in the body and govern their functioning in health and disease. During the recently completed third phase of ENCODE, …
Talking Glossary
La interacción genes–ambiente se refiere a interrelación de los genes (y en términos más amplios, de la función del genoma) y el entorno fÃsico y social.
… Interacción genes-ambiente … La interacción genes–ambiente se refiere a interrelación de los genes (y en … influence the expression of phenotypes. For example, most human traits and diseases are influenced by how one or more …
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… live in all parts of your body and make up the diverse human microbiome. These microbiomes support and maintain your … diseases. Hence it is not surprising that the human microbiome is an important avenue of health research. … yet know if a change in a microbial community leads to a disease or if a microbial community changes in response to …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Jeannine Mjoseth … Researchers at the National Human Genome Research Institute (NHGRI) and their … the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. They …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data​​.
… facilitate interpreting the phenotypic consequences (e.g. disease) of genetic variation, particularly in non-coding … data to understand what elements are controlling what genes, in what cell types. The ability to make accurate … Medical School Rules Of Gene Expression Modeled On Human Dendritic Cell Response To Pathogens Maturation in …