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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.
… to include several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol … or ClinicalTrials.gov Identifier: NCT00001373 . … Autoinflammatory diseases are a group of disorders characterized by seemingly …
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.
… Daniel Kastner, M.D., Ph.D., a pioneer in the field of autoinflammatory diseases, and his team discovered CRIA, which has symptoms … and liver.  The disorder has characteristics typical of an autoinflammatory disease, where the immune system appears to …
Archive
… NIH researchers discover gene alteration in rare autoinflammatory disease … Archive …
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.
… Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to … by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and … NIH … Related Content … Genomic variation causing common autoinflammatory disease may increase resilience to bubonic …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… the genomic causes of multiple rare and debilitating autoinflammatory diseases and identifying and treating previously undiagnosed … Heyman Service to America Medals program. ​ … Dan Kastner, autoinflammatory diseases, undiagnosed diseases … Daniel …
Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… in the genes that work in our immune system can lead to autoinflammatory diseases. If a person has clinical features that are highly suspicious for a given autoinflammatory disease, we can look at the genes that we …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… who are older than 1 month and who have evidence of autoinflammatory disease (such as persistently elevated CRP … … FAQ for Providers and Researchers … FAQs for Autoinflammatory Diseases Study providers and researchers. … FAQs for …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a post-doctoral fellow on the … (NHGRI) and continues to study the genetics of monogenic autoinflammatory diseases. Dr. Aksentijevich is certified in … Genetics, and supervises a CLIA-certified laboratory for autoinflammatory disease diagnostics in the IDS. Her …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… physical and social environment. For this reason, complex diseases are also called multifactorial diseases. This stands in contrast to a “simple” genetic … in a single gene. Common examples of complex genetic diseases include heart disease, diabetes, and cancer. … A …