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News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the … syndrome, and symptoms of FMF include recurrent fevers, arthritis, rashes and inflammation of the tissues that line …
News Release
NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and discovered in it clues about the migration of humans to the area.
… revealed that dogs are all the same species, Canis lupus familiaris , but they exist in separate, genetically …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… Park M, NISC Comparative Sequencing Program, Weingarten RA, Less J, Dekker JP, Frank KM, Musser KA, McQuiston JR, … 10.1038/s41591-018-0211-7. 2018. [ PubMed ] Weingarten, RA, Johnson, RC, Conlan S, Ramsburg, AM, Dekker JP, Lau AF, … Sison C; NISC Comparative Sequencing Program, Weingarten RA, Lau AF, Dekker JP, Palmore TN, Frank KM, Segre, JA. …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Goldbach-Mansky, M.D., M.H.S., National Institute of Arthritis and Musculoskeletal and Skin Diseases , will use …
Policy Issues
Genetic information is used by law enforcement to investigate criminal acts and exonerate those who have been convicted of crimes they did not commit.
Policies and Guidance
NHGRI does not collect personally identifiable information about you on genome.gov unless you volunteer to provide it.
File
… EA, Mustafa HM, Altohami HI, Gasm Alla h LT, Mohammed RA, Alamin TA . Polymorphisms in the Glutathione S … of the STAT4, CDKN1A and IRF5 Variants with Risk of Lupus Nephritis and Renal Biopsy Classification in Patients … LA, Hufnagel RB, Zein WM, Blain D, Brooks BP. Ocular and Systemic Findings in Adults wi th Uveal Coloboma. …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA. A BLOC-1 Mutation … and Pathophysiology (JJ. Nordlund, RE Boissy, VJ Hearing, RA King, WS Oetting, J-P Ortonne, eds) Oxford: Blackwell …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… MH, Takeuchi F, Nano J, Guo X, Lamri A, Nakatochi M, Scott RA, Lee JJ, Huerta-Chagoya A, Graff M, Chai JF, Parra EJ, Yao … Susceptibility to Scleroderma in African Americans. Arthritis Rheumatol . 70(10):1654-1660. 2018. [ PubMed ] … D. African Ancestry Gradient Is Associated with Lower Systemic F2-Isoprostane Levels. Oxid Med Cell Longev . …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… amino acids and uric acid in the urine Early onset of arthritis and bone loss … Doctors diagnose Wilson disease …