One Man's Quest to Cure Rare Autoimmunity

Through one scientist's dedication, an entire field of medicine began. Dr. Dan Kastner discovered the causes of over a dozen autoinflammatory disorders. These are rare inherited disorders that cause chronic fevers and inflammation of the skin, joints and membranes that cover organs.

Dr. Kastner had just begun working at the NIH in the mid-80s when he had his first patient with familial Mediterranean fever. It causes severe inflammation that used to be deadly before drugs were available. And though rare, it's more common in countries that border the Eastern Mediterranean such as Turkey and Israel which is where he collected blood samples from 50 families. After seven years he found the mutation on chromosome 16 and after five more years, he found the mutated gene - the MEFV. It had a single base change in what encodes a protein called pyrin. The mutated form of pyrin lacks the proper site to turn off the protein, causing excessive inflammation.

He also studied TRAPS which stands for Tumor necrosis factor receptor-associated periodic syndrome. This mutation is in a receptor for a protein that initiates inflammation. The mutation causes uncontrolled activation of the inflammatory response.

Over five decades of research, Dr. Kastner has discovered the genetic errors behind 16 autoinflammatory diseases. Twelve of those now have treatments which means thousands of lives are improved from one man's unwavering focus to keep looking.