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News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… its link with a myriad of diseases , including hemophilia, chronic granulomatous disease and Duchenne muscular …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… to identify the genes underlying cardiovascular and other chronic diseases, such as osteoporosis and diabetes. More …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Center hosts a wide range of studies from rare diseases to chronic health conditions, as well as studies for healthy …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… stroke syndromes, pancreatic dysfunction, diabetes, chronic kidney disease, osteoporosis, obesity and retinal … the wider study of related medical conditions, especially chronic kidney failure caused by tubulointerstitial disease. …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… clinical testing or consultations. Possible risks include: Pain, bruising, or risk of infection as a result of the blood …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… symptoms, they might experience shortness of breath, chest pain and fainting. While previous studies have demonstrated …
The Genomics Landscape
In the November 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program.
Staff
Dr. Mo is an adjunct staff clinician in the Hematology Laboratory, Department of Laboratory Medicine in the NIH Clinical Center.
… Automated quantification of measurable residual disease in chronic lymphocytic leukemia using an artificial …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… 125 million people in the U.S. live with some form of a chronic inflammatory disease. Many of these diseases have …