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News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … a senior investigator with NIH's National Human Genome Research Institute (NHGRI), and her collaborators at the …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… support from the National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical … multiple research teams will use the ADSP data to identify rare genetic variants that protect against, or contribute to, …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… The goal of the National Human Genome Research Institute's (NHGRI) Division of Intramural Research … for improving the treatment, prognosis, and prevention of rare and common diseases. The study of genomic variation and … including factors influencing human history and health, disease susceptibility, and common principles of biology. … …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through systemic … as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… New disease could provide insights into how the cell’s recycling … Medicine . Scientists from NIH’s National Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program … cellular processes like autophagy,” said Malicdan. A rare disease that involves changes in one gene can help tease …
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.
… Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized … disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, cystic fibrosis, and sickle …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies. … fellow at the University of Virginia Cardiovascular Research Center and the University of Virginia Center for … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for informational purposes only and … is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. … in medical genetics. After being exposed to clinical research here at NHGRI and other institutions nearby, I knew … lead to clinical trials and decrease the burden of disease of our patients. … Soo: What are some difficulties in …