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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 …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… eminently feasible Genomic analysis can reduce unnecessary bone marrow biopsies in African Americans One third of cardiology …
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 …
Health FAQ
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… called conditioning. Chemotherapy helps make room in your bone marrow to receive the modified stem cells. Chemotherapy is …
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 …
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… guidelines : chromos ome s tudies of neoplas tic blood and bone marrow –acquired chromos omal abnormalities . Genet Med …
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 …