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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

Genomic variation causing common autoinflammatory disease may increase resilience to bubonic plague

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

Researchers discover a new autoinflammatory disease called CRIA syndrome

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 …

Staff

Ivona Aksentijevich, M.D.

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 …

Clinical Research

FAQ for Participants

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

FAQ for Providers and Researchers

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 …

News Release

Rare disease research may provide insights into common diseases

NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.

… that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … studies have the potential to shed light on more common diseases in a perspective published February 22, 2017, in the … clinical director and director of the NIH Undiagnosed Diseases Program (UDP), offered other examples of rare …

For Patients and Families

Rare Diseases FAQ

A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.

… States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million Americans. … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 …

Educational Resources

Complex Disease

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 …

15 Ways Genomics Influences Our World

Rare Genetic Diseases

Genomics is ending diagnostic odysseys for patients with rare diseases.

… is ending diagnostic odysseys for patients with rare diseases. … Did you know that there are truly rare people … of these patient groups are accelerating research on rare diseases by recruiting patients with the same condition to … the mutations in the PRNP gene that cause prion diseases like FFI . Along with their colleagues, the couple …