Unraveling the Mysteries of Familial Mediterranean Fever Led to a Career of Rare Disease Research

According to a story from govloop.com, Dr. Daniel Kastner, the Scientific Director for the Division of Intramural Research at the National Institutes of Health (NIH), has committed his career to researching rare diseases. He spends much of his time working with the human genome in order to uncover the genetic basis for rare diseases. While Dr. Kastner has made many different discoveries during his career, he got his start in the rare disease field when he had to take care of an infant with familial Mediterranean fever in 1985.

What is Familial Mediterranean fever?

Familial Mediterranean fever is an inherited, inflammatory illness. While it has been given many different names, the name familial Mediterranean fever refers to the fact that the most commonly occurs in ethnic groups that are from the Mediterranean area, such as Greeks, Turks, Arabs, and Italians. It is caused by a genetic mutation. Symptoms occurs in periodic attacks that can affect varying parts of the body. Patients typically experience their first attack before adulthood. Abdominal attacks cause acute abdominal pain and inflammation of the abdominal lining; similar attacks of pain and inflammation can occur in the joints, chest, and scrotum. Rashes, muscle pain, and fever also occur. Amyloidosis with kidney failure can occur during an attack, and constitutes a medical emergency. To learn more about familial Mediterranean fever, click here.

Dr. Kastner’s work

After encountering that first baby with familial Mediterranean fever, Dr. Kastner committed the next 12 years of his life to discovering what caused the disease. The human genome project was in works at that juncture, which gave him access to critical genetic data. He eventually discovered a mutation in a gene called pyrin as the origin of the illness. This discovery revealed an entire group of proteins that play a role in regulating inflammation.

This discovery also led to a new genetic test that could identify familial Mediterranean fever, and a significant portion of people that had previously been diagnosed with the fever were found not to have it under the new test. This lead to the discovery of an entirely new disease that had somewhat similar symptoms.

Since then Dr. Kastner has continued his work with NIH and has made huge contributions to the rare disease field using genetic research.

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