Research team makes strides in rare disease treatment

By Ian Dillingham, For the Daily
Published September 20, 2012

Researchers at the University’s Medical School are one step closer to understanding congenital anosmia, a rare disease that inhibits the sense of smell from birth.

Jeffrey Martens, an associate professor in the Department of Pharmacology, and his research team published a report in early September documenting their findings in increasing the nasal function in rats suffering from a strain of the disease that is fatal in humans.

Though the breakthrough won’t apply specifically to humans — since humans with the strain don’t survive beyond birth — the findings have broad implications for future research on sensory dysfunctions that result from ciliopathy, a dysfunction of the cilia — small hair-like structures that reside on the cells of the nasal cavity and are crucial for the brain’s detection and interpretation of odors.

“We’re very optimistic because, not only was this one of the first reports to treat anosmia, but this was, as far as we know, one of the first reports to actually treat a ciliopathy,” Martens said.

Congenital anosmia is one of many diseases that result from complications with the cilia. Odors dissolve in the nasal mucus, which then bond to an odor receptor on the cilia, which sends a signal to the brain that enables it to interpret the smell.

Ciliopathy can also impact other organs of the body where cilia exists, including the heart, eyes and kidneys.

Martens said congenital anosmia in humans is difficult to study because of the lack of known cases. He noted that two to four million Americans have anosmia or other olfactory dysfunctions, but it is unclear what percentage of those cases is congenital.

Martens explained that lack of clarity has to do with the disease going under-diagnosed or unreported by patients.

“A lot of people don’t know that they can’t smell, especially if they haven’t been able to smell since birth or they don’t go to the doctor thinking it’s a major issue,” he said.

The first author of the most recent paper, Jeremy McIntyre, a post-doctoral research fellow at the University Medical School, has been working in Martens’s lab for about three years. He said though the research process can be arduous, reaching the point of publication makes the hard work pay off.

“In the middle of research, it can be painful at times,” Martens said. “It can be a lot of work. It can be frustrating trying to get the conditions right so that you can answer the questions that you need and work out all the technicalities of doing these experiments … but then you publish it, and everything up until this point, for me, has been the reward of publishing the paper.”

For people battling the disease, Martens cautioned that human applications are still many years away.

“Our next step is to better understand the system and translate this into a potential therapy for patients,” Martens said. “I think it’s something coming down the line but we’re not there yet.”

Martens said a cure for humans would require more extensive research, which will take time. However, he said he is optimistic, calling the research “an exciting first step,” adding that the research is rewarding because of the potential for drastically improving the quality of life for those affected.

“When I got into this, I didn’t fully understand the impact it has on people’s lives and now it’s really changed my perspective and I’m very excited because, for the first time… I can see that clear translational component,” he said.

Martens said one of the most satisfying outcomes of the breakthrough is the response he has received from patients around the world who have volunteered for clinical studies.

Martens lauded the supportive atmosphere of the University in aiding their research endeavors.

“We’re just excited to be able to do this work here at Michigan and the environment here has really provided us an opportunity to be able to make an impact on the field,” Martens said. “There’s tremendous science going on throughout this University and we’re excited by that.”