Search Results
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… Familial Mediterranean Fever (FMF) is an inherited disease, characterized by recurrent … numerous cases among several additional populations with Mediterranean roots, including: Ashkenazi Jews, Italians, … also sometimes referred to as recurrent polyserositis or familial paroxysmal polyserositis. …
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.
… launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since then, it has expanded to include several … Familial Mediterranean Fever (FMF) TNF Receptor Associated Periodic … New England Journal of Medicine December 2020 Ancient familial Mediterranean fever mutations in human pyrin and …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… positional cloning of the gene mutated in patients with familial Mediterranean fever (FMF), and later stayed in the same group as a s taff … mapping and positional cloning of the gene mutated in familial Mediterranean fever (FMF). She went on to discover mutations …
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.
… Genomic variants that cause common periodic fever have spread in Mediterranean populations over centuries, potentially … Researchers have discovered that Mediterranean populations may be more susceptible to an … that specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also confer increased …
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.
… with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which … seen in 12 children, which was marked by recurrent fever, painful canker sores, sore throat and inflamed lymph … early age, between the ages of 1 and 5. The first sign is fever, accompanied by sore throat with redness and other …
Educational Resources
A family history is a record of medical information about an individual and their biological family.
News Release
As you celebrate Thanksgiving with your family, remember that this special day is also National Family Health History Day.
News Release
Researchers at NHGRI have discovered an immune mechanism in humans that perceives threats and was found only in plants.
… to pathogens, like bacterial toxins, through full-blown fever and a recruitment of inflammatory molecules and white … diseases such as the autoinflammatory disorder known as familial Mediterranean fever (FMF), the inflammatory response has gone … system, inflammasone, human guard mechanism, Dan Kastner, familial Mediterranean fever, FMF …
News Release
As you celebrate Thanksgiving with your family this November, remember that this special day is also National Family Health History Day.
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Stimulated by a chance encounter with a patient with familial Mediterranean fever (FMF), Dr. Kastner established a research group in the … AD, Pras M, Kastner DL. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N … Dan Kastner, inflammatory disorders, familial Mediterranean fever (FMF), deficiency of adenosine …