Search Results
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… Research Institute and the National Heart, Lung, and Blood Institute launched the Centers for Mendelian Genomics … cannot regulate salt reabsorption and balance in the blood. Many Mendelian traits are highly genetically …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… and they often have extremely elevated creatine kinase blood levels (which are described below) . If untreated, the … Creatine kinase is an enzyme that is present normally in high concentrations in the muscle cells of our body. During … side effects of prednisone include weight gain, high blood pressure, behavior changes, and delayed growth. A synthetic …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… as to why he was experiencing joint pain and recurrent high fevers. None could find the reason. Today, this young … time. It's extremely painful. Rohith also had recurrent high fevers and swelling of the salivary glands." From … to an infection. It must be genetic. Dr. Kastner requested blood samples from Rohith and his sister and parents to be …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… Doumatey AP, Zhou J, Adeyemo A, Rotimi C. High sensitivity C-reactive protein (Hs-CRP) remains highly … ATP1B1, RGS5 and SELE polymorphisms with hypertension and blood pressure in African-Americans. J Hypertens. 2011 …
Educational Resources
Chromatin is a substance within a chromosome consisting of DNA and protein.
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… approximately 600 people in the world, were published in Blood Advances . … "The discovery of new genes associated … ECD is caused by the accumulation of specialized white blood cells called histiocytes in different organs. The … cancer, lung cancer, thyroid cancer, brain tumors and some blood cancers. Other patients had mutations in genes of the …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… that can detect light, while specialized cells in red blood cells make proteins that carry oxygen from the air to …
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.
… be a physicist or a mathematician. During my last year of high school, I decided to pursue a career in medicine because … lives. In my home country of Paraguay, you go from high school directly to medical school. I have to say that I … surgery. You can get some information from, for example, blood samples. But in some cases, the disorders are mosaic, …
The Genomics Landscape
In the March 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights a strategic planning effort to establish a 2020 vision for genomics.
… Cigarette Smoking Behavior to Identify Genes that Regulate Blood Pressure Notable Accomplishments in Genomic Medicine New …
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… published the first genome-wide scan for hypertension and blood pressure in African Americans and for type-2 diabetes in West … development of admixture mapping panels from commercial high-density SNP arrays, new methods for joint ancestry and …