Expanding understanding of pigmentation diseases

With a new NIH grant, Cynthia Cooper is probing some “unexpected effects” related to diseases of pigmentation.

Cynthia Cooper has spent  18 years studying the relationship of pigmentation to human diseases, notably melanoma and albinism, using zebrafish as a model. Zebrafish are an ideal model because their pigment cells are easily viewed through their transparent skin, and their eggs can be collected in high numbers year round.

Dr. Cynthia Cooper in her zebrafish facility at WSU Vancouver

Cooper, associate professor of molecular bioscience at WSU Vancouver, has now received a two-year, $100,000 grant from the National Institutes of Health to further her research into other potentially pigment-related diseases, such as deficiencies in sensory or neural system development and embryonic death. The grant is especially gratifying to her because it is the first she has received from NIH for her research. (She received an earlier NIH grant as a postdoctoral fellow at the University of Washington in Seattle.)

Traits like white hair, red eyes and variations in skin tone are familiar in albinism, but there are other common traits—Cooper calls them “unexpected effects” or “pleiotropic effects”—that are less well known and understudied, and those are the focus of Cooper’s research. For example, people with albinism may have issues with processing visual input, so that images may be distorted because of a lack of pigment in the eye. Anther unexpected problem is that some people with albinism, or another hypopigmentation disease called Waardenburg syndrome, have optic neuron defects. 

Many of Dr. Cooper’s experiments involve microscopy.

“It has nothing to do with the neuron having pigment,” Cooper said. “It’s more like a nerve in the back of the eyeball does not develop correctly or does not connect to the processing center in the brain correctly.”

Cooper is interested in the idea that pigment can somehow help promote the development of bodily systems that are important for seeing, hearing and other sensory experiences. “It’s intriguing to me that melanin, something we only think of as important to skin color and tanning, may also be important for development of these other systems,” she said.

Cooper joined WSU Vancouver in 2008 after studying for her Ph.D. at the University of Washington and conducting her dissertation research at the Fred Hutchinson Cancer Research Center in Seattle. She credits her post-doc advisor, David Raible, for inspiring her zebrafish work.

Cooper’s first substantial funding came from the Melanoma Research Foundation in 2011. Over the years, other support has come from WSU’s College of Veterinary Medicine, WSU Vancouver’s faculty mini-grant program and the Pan American Society of Pigment Cell Researchers. Some of the grants were enough to cover salaries for technicians and students, both graduate and undergraduate, and the NIH grant will do the same. That will help accelerate the research.

Dr. Cooper mentors numerous undergraduate students in her lab, providing them with excellent hands-on research experiences.

Cooper has a storied reputation as a generous mentor, and the proof is that when funding has run out, many students have stayed in her lab as volunteers, sometimes even after finding full-time jobs. She brings them food, takes them to dinner, works beside them even on menial tasks, gives them co-authorship on published papers, serves as a reference for jobs or graduate school, and generally supports them “however I can,” she said. Cooper has been able to collect some preliminary data for the new grant already. Her next grant application will build on her current research, asking, for example: “What proteins are important for melanin dependence? How might it be impacting the development of a neuron or a cell that doesn’t make melanin? Those general questions are where we are now, and I hope with the next grant we can further test the role of pigment cell proteins in pigmented and non-pigmented (initially sensory) systems.”

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