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Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… which are important in the immune response, and myeloid bone marrow precursors. Although the precise function of pyrin is …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… the database, including NHGRI's CLINSEQ program, healthy bone marrow donors from the National Heart, Lung, and Blood …
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… those who are having acute interventions performed such as bone marrow transplant, or those who are directly participating in … hematologic disease. We do these tests on blood samples, bone marrow samples and skin biopsies. This means there is a …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… therapeutic options. The collaborators determined that bone marrow transplantation could double the lifespan of Sandhoff … 2016. [ PubMed ] Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman …
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… called conditioning. Chemotherapy helps make room in your bone marrow to receive the modified stem cells. Chemotherapy is …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… by debilitating congenital abnormalities, life-threatening bone marrow failure, and a predisposition to myeloid, head and …
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… guidelines : chromos ome s tudies of neoplas tic blood and bone marrow –acquired chromos omal abnormalities . Genet Med …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… is an important cause of polyarteritis nodosa as well as bone marrow failure. Dr. Aksentijevich has also made important … (DIRA): A Systemic Autoinflammatory Disease of Skin and Bone. N Engl J Med, 360(23):2426-37 . 2009.[ PubMed ] Masters …
News Release
NHGRI's Dr. Elaine Ostrander and the Smithsonian's Dr. Dennis Stanford discover North America's oldest dog relics, important in canine genome research.
… are present in the correct order and different levels of bone structure are visible. DNA from the 25 to 30 samples may … Koepfli (Smithsonian) collects a sample of ancient dog bone. Photo credit: Brennan Decker, NHGRI. "If the remains …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… multi-focal osteomyelitis (CRMO), or inflammation of the bone. "Children who have CRMO can have inflammation in one bone, and then in a different bone," said Dr. Kastner. "Sometimes it can be multiple bones …