Search Results
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… JC, Kenny EE, Bottinger EP. Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans. J Am Coll Cardiol . … CA McCarty, R Li, TA Manolio, DC Crawford, RL Chisholm. High density GWAS for LDL cholesterol in African Americans …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… of the genome that reflects protein-coding regions), used blood spots and saliva as the source of DNA, enrolled healthy … conditions. Since these conditions have disproportionately high morbidity and mortality in non-European populations, … with a Blueprint NIH Scientists Link Genetics to Risk of High Blood Pressure Among Blacks Notable Accomplishments in …
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 …
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 … testing (looking at the body's genetic instructions) on a blood sample for changes in the DMD gene can help establish … Creatine kinase is an enzyme that is present normally in high concentrations in the muscle cells of our body. During …
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 …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… by a change in the gene that produces hemoglobin, the red blood cells that carry oxygen throughout the body. In … carriers for sickle cell disease have higher risks of blood clots across diverse ancestries September 12, 2024 …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… in a chicken population divergently selected for low or high growth rate. BMC Genomics 11:107. PMCID: PMC2830984. … G. B., Johnson, T., The International Consortium for Blood Pressure Genome-Wide Association Studies , Chakravarti, A., …
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 . … 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 …