Search Results
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in … brain. This ongoing accumulation causes progressive damage to the cells. In children, the destructive process begins in … The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach out. Eventually, the child …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the United States. … chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN … most challenging medical mysteries. Supported by the NIH Common Fund , UDN uses genome sequencing in the clinic, along …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… The Cancer Genetics and Comparative Genomics Branch seeks to identify and study genes that contribute to cancer … or production of tumors-tumorigenesis-can result from genomic alterations that are inherited or alterations that … susceptibility loci, particularly for aggressive forms of common cancers. This involves using both linkage and …
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 … of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and … many of which are involved in immune response to invading pathogens. The study - Dense genotyping of …
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… a (240) 274-6777 o covidcode@nih.gov . This study aims to learn more about the genetic contributions to the severity of COVID-19. We hope to use … more about the genetic contributions to the severity of disease of COVID-19. … The goal of this study is to learn …
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 … genome are associated with disease risk. In the case of common diseases, such as diabetes, many genetic changes and …
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… 10,000 years ago. Now, the goat has contributed its DNA to a study that presents a new method for high-quality, low-cost genome reconstruction. In addition to the goat genome, this technique will be useful for … for learning about the genetic causes of health and disease and, in animals, for making breeding decisions. San …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the … copy of the responsible gene (called HTT) is sufficient to cause the disease. … Educational Resources …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… cancer-causing pathway in lung adenocarcinoma, the most common subtype of lung cancer. Knowledge of these genomic changes may expand the number of possible therapeutic … Mutations affecting the RTK/RAS/RAF pathway can cause it to become stuck in the "on" state. As a result, signals that …