Student Research Increases Understanding of Rare Disease

Birt-Hogg-Dube (BHD) syndrome is rare, but its effects can be devastating: facial and neck lesions, lung cysts, collapsed lungs, even kidney cancer. Yet relatively few in the medical profession are familiar with this hereditary condition, leading it to be underdiagnosed.

Keck Graduate Institute student Daniel Park, MBS ’16, recently conducted independent research that helps address that problem by increasing understanding of BHD syndrome. His work resulted in a paper made widely available through the BHD Foundation’s literature database of scientific publications.

Park examined the genetic mutation associated with BHD syndrome as well as the symptoms, diagnosis, and current and potential therapies for this disease, which today has no treatment or cure. In particular, he focused on the folliculin protein, its interacting proteins, and the signaling pathways associated with BHD syndrome.

“Daniel was a very motivated student who dug deeply into the subject,” says Research Associate Professor Craig Adams, Park’s faculty advisor and mentor. “Though we met throughout the semester to discuss the molecular biology and transduction pathways surrounding this rare disease, he was the driving force. As faculty members, we love to see that level of energy and drive in our students.”

Park, who also completed the Postbaccalaureate Premedical Certificate (PPC) program at KGI and eventually plans to attend medical school, undertook his project to learn more about rare diseases and gain additional research experience. He chose to study BHD syndrome after discussing options with Adams.

“The experience was amazing,” says Park. “Having the opportunity to correspond with Professor Adams gave me a greater glimpse into the landscape of signal transduction pathways. I had previously thought of signaling as complex but linear. However, to put it most succinctly, as Professor Adams says, ‘Biology is messy.'”

Park isn’t the only one at KGI with an interest in BHD syndrome. For KGI Registrar Melissa Brown, the connection is personal rather than scientific: The “Birt” in the syndrome’s name is her husband’s grandfather, the dermatologist and educator Arthur Robert Birt, who in 1977 was one of the three Canadian physicians to first describe the condition.

Dr. Birt would likely be pleased that his own work inspired Park to research BHD syndrome. Brown says, “My husband’s grandfather valued learning, and I think he would be happy to know that even today the work he did continues to have an impact.”