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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.
… disease, characterized by recurrent attacks of fever, inflammation of the abdominal lining (peritonitis), inflammation of the lining surrounding the lungs , painful, … are symptom-free. Other symptoms that may occur include inflammation of the lining surrounding the heart …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… same gene in patients with a similar type of blood vessel inflammation. … The NIH group first encountered a patient … deaminase 2 (ADA2). Without it, abnormalities and inflammation in blood vessel walls result. The researchers … nodosa (PAN). PAN is a form of vasculitis, an inflammation of medium and small arteries that leads to pain, …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… KS, Huang H, Zhou J, et al. Relationships among obesity, inflammation, and insulin resistance in African Americans and … and Global Health, genetic epidemiology, complex diseases, inflammation … Ayo Doumatey, Center for Research on Genomics … and Global Health, genetic epidemiology, complex diseases, inflammation … Dr. Ayo Doumatey is a Research Fellow and …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… chronic, recurrent, 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 … case, the effect leads to a form of cell death that causes inflammation. Dr. Kastner had a hunch from the scientific …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… Prabarna Ganguly, Ph.D. … Study shows mutations in inflammation-related genes are associated with PFAPA syndrome … inflammatory diseases: Behçet’s disease, which causes inflammation of blood vessels, and canker sores. Each illness … association was with the gene IL12A , which encodes an inflammation-related protein that is used by the immune …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… is a disease that destroys blood vessels through systemic inflammation, manifesting as painful oral and genital ulcers, as well as vision destroying inflammation of the eyes. Research suggests the disease …
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.
… of FMF include recurrent fevers, arthritis, rashes and inflammation of the tissues that line the heart, lungs, and … example, in the event of an infection). Pyrin increases inflammation and the production of inflammation-related molecules. In contrast, FMF patients …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… the enzyme ADA2 (adenosine deaminase 2). This can lead to inflammation of the walls of the blood vessels, hindering … to these children and their families." DAD2 can lead to inflammation in the wals of the blood vessels, hindering … including steroids, drugs used for vasculitis (inflammation of blood vessels) and anti-coagulant medications …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… tract from the mouth to the anus. The swelling and inflammation can go deeply into the lining of the bowel. This … count and sedimentation rate which are signs of swelling (inflammation) in the body. Other tests that may be done … or colonoscopy that allows the doctor to see any inflammation or bleeding in the colon. … There is currently …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… RIPK1 protein, which is involved in the body’s response to inflammation and programmed cell death. To make sure that RIPK1 action does not initiate inflammation and cell death in all cells, another protein … disarming it, is crucial to controlling cell death and inflammation. Recognizing this cause-effect relationship, …