Search Results
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 … 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 … times) or continuous, and worsens with movement. Dercum disease is often associated with generalized weakness, …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… genomic switches of a blood cell are key to regulating the human immune system. The findings, published in Nature today, … those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … Genomics and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI). Autoimmune diseases …
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 … is a highly significant problem, as the vast majority of disease-associated variants found using GWAS lie outside of … data to understand what elements are controlling what genes, in what cell types. The ability to make accurate …
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 …
Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
… have inherited mutations in certain cancer-susceptibility genes have a lifetime risk of cancer that is significantly …
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 términos más amplios, de la función del genoma) y … La interacción genes–ambiente se refiere a interrelación de los genes (y en términos más amplios, de la función del genoma) y …
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.
… 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 …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior investigator with NIH's National Human Genome Research Institute (NHGRI), and her … at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research …
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
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … Huntington's disease (HD) is an inherited neurological illness causing … have implanted fetal tissue in rodents and non-human primates to better understand how to restore or replace … trials for treating cancer in humans. This could speed up human trials of the drug in Huntington's disease patients. …