Meet the Govie That’s Shining a Light on Rare Diseases

Rare illnesses can have a serious impact on a patient’s life, and if not treated swiftly and directly, they can wreak havoc on the body. In many cases, rare diseases can be deadly or untreatable. So, how can researchers combat these devasting illness? One scientist is identifying rare genetic diseases and treatments to save thousands of patients.

Dr. Daniel Kastner is the Scientific Director for the Division of Intramural Research at the National Institutes of Health (NIH) for the U.S. Department of Health and Human Services. There, Kastner and his team study the human genome to determine the cause of rare illnesses, generating important research that has helped save thousands of patients. Because of his efforts, he is a finalist for the 2018 Service to America Medals, the SAMMIES. The SAMMIES are an esteemed awards program sponsored by the Partnership for Public Service that recognizes remarkable work done by career federal employees. Last week, Christopher Dorobek, the host of the Dorobek Insider, spoke with Dr. Kastner about the genomic discoveries he and his team have made.

Dr. Kastner got his start in genomic mapping back in 1985. As a fellow for the National Institutes of Health, Dr. Kastner had his first run-in with a mysterious and rare disease that had struck an infant under his care. This led to his discovery of an entirely new class of rare genetic diseases.

“Back at that time I was just a beginning fellow here at the NIH, and that just seemed like a fantastic thing to spend some time investigating, trying to figure out what causes the disease,” said Dr. Kastner. “And the human genome project was just taking off at that time so, there were new tools that were available in this kind of detective work.”

Dr. Kastner spent the next 12 years trying to solve the riddle of what causes Familial Mediterranean Fever, a rare disease that his first patient at NIH had. Through his research, Dr. Kastner found a gene that enclosed a protein, which he and his team named Pyrin (after the word “pyrexia” for fever), that is mutated in patients with the disease. This newly discovered gene also serves as a prototype for what Dr. Kastner describes as “a whole family of proteins that are involved in regulating inflammation in humans.”

After Dr. Kastner and his team found the mutated gene for Familial Mediterranean Fever, patients across the world who had been diagnosed with the disease began seeking help from NIH. “At that point [we had] a genetic test that we could do to figure out if a person, in fact, did have Familial Mediterranean Fever. And, lo and behold, once we started seeing these patients, it turned out that not all of them had Familial Mediterranean Fever.”

This led the researchers to ask a new question: If the patients didn’t have Familial Mediterranean Fever, then what did they have? Dr. Kastner and his team began applying some of the same tools of human genetics and genomics they used to discover the Pyrin protein. Dr. Kastner says that one of the first examples he came across in his research was a disease known as Hibernian Fever. “Hibernian means Irish, and so it had first been described in a family of Irish ancestry. Hibernian Fever [unlike Familial Mediterranean Fever] has attacks that last a month to six weeks at a time, and don’t respond to the same kinds of medications. Hibernian Fever [is also] a dominant disease.” Dr. Kastner and his team later named the disease TRAPS, The TNF Receptor Associated Periodic Syndrome.

Dr. Kastner spends a great deal of his work examining the human genome and figuring out which proteins control for the inheritance of our diseases. He says that the National Human Genome Project has made it easier to discover individual genes in the genome that cause particular human diseases. By simply obtaining DNA samples from families of patients, researchers can look at certain known DNA markers and compare the findings to determine whether or not there is a correlation of inheritance. “That allows one, to first identify what chromosome the gene is on, and then by sort of a refinement of that process, one can actually discover the gene. That’s how we found the gene for Familial Mediterranean Fever,” said Dr. Kastner.

Not only does Dr. Kastner speak passionately about his research from a scientific standpoint, but he also stresses the importance of the government’s involvement in the Genome Project as well. He believes that the government’s investment in the project gave it a sense of validity and a pathway to follow. Dr. Kastner enjoys his work at the NIH because of the opportunity he has to work with patients participating in clinical protocols at the Clinical Center.

“Some of the greatest gratifications I get is when we can find a treatment for one of these patients, and in fact, when we can follow these patients over time and see how well they do,” he said.

Get to know the other SAMMIE finalists before the ceremony. We think all of the finalists are awesome, but if you have a favorite be sure to vote for them in the People’s Choice Award!

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