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… Cancer 13,000 Multiple Sclerosis 20,000 Lung Cancer 20,000 Rheumatoid Arthritis 30,000 Melanoma 13,000 Lupus 15,000 GWAS samples in 18 diseases: 400,000 cases …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… disease is a disease that destroys blood vessels through systemic inflammation, manifesting as painful oral and … about Behcet's Disease from the National Institute of Arthritis and Musculoskeletal and Skin Diseases Last Updated: …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… id asscociated with disease heterogeneity in multi-ethnic lupus cohort Board No. PB3491 Olivia Solomon Convention … Hall 3:00 p.m. — 4:45 p.m. Reviewer's Choice Subsetting systemic lupus erythematosus patients based on clustering of DNA methylation …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… on more effective treatments for PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum, and acne), a condition … patients with pathogenic mutations in PSTPIP1 . Arthritis Rheumatol . 2022 Feb;74(2):353-357. Stone DL , Beck … DB, Manthiram K, Park YH, Chae JJ, Remmers E, et al. The systemic autoinflammatory diseases: Coming of age with the …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… rectum called fistulas; nutritional deficiencies; anemia; arthritis; skin problems; kidney stones, gallstones or other … the lower right area. Diarrhea Rectal bleeding Weight loss Arthritis Skin problems Fever Rectal bleeding may be serious …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… and bone abnormalities such as bone pain, fractures and arthritis. The less common Types 2 and 3 affect the central …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… characterized by seemingly unprovoked episodes of systemic or localized inflammation, without evidence of … Pharyngitis and Cervical Adenitis (PFAPA) Pyogenic Arthritis, Pyoderma Gangrenosum and Acne (PAPA) Retinal … to Mendelian Diseases: 1) Systemic Juvenile Idiopathic Arthritis: One Name, Many Faces and 2) The Deficiency of …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… 24 [updated 2020 Apr 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. … Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA , Gahl WA, et al. … Behçet's disease with anakinra: a pilot open-label study . Arthritis Res Ther . 2017 Mar 24;19(1):69. Merideth MA , LB …
News Release
Scientists are using an exciting gene editing tool called CRISPR/Cas9 to protect plants from harmful DNA viruses, strengthening the plant's protections.
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… of Pittsburgh. Researchers from the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the … called JAK inhibitors, which are commonly used to treat arthritis, eczema, ulcerative colitis and other chronic …