Search Results
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 …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… in society, and NHGRI remains more committed than ever to facilitating the use of genomics for addressing all … – ENCODE was able to develop an updated and much-improved genomic encyclopedia, expanding its provision of critical … here , once available. …  Recently, the International Common Disease Alliance (ICDA) released their recommendations …
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 …