Envision 2016

Annual Giving 2016

Moving Vision Science Forward Contributions to the W.K. Kellogg Eye Center Annual Fund and Alumni and Faculty Annual Fund fueled significant progress in scientific research this year. These resources are invaluable as we strive to develop more effective treatments and cures for eye diseases and trauma. The annual funds provided support for stateof-the-art microscopy equipment used by many researchers this year and to the faculty members featured in this impact report. Thank you for partnering with us to save and restore sight.

Building Careers for a Lifetime of Contributions:

Pursuing Discoveries in Eye Development When Brenda L. Bohnsack, M.D., Ph.D., cared for a 6-month-old boy with a genetic disorder that causes frail bones, she recognized that what she was seeing was unique. The baby had eye problems, including congenital glaucoma, not usually associated with his disease. While she provided care to help save his vision, she also looked at the case as a scientist and asked what she and others could learn. Her experience is at the heart of one of the articles she published in a research journal this year.

“To our knowledge, this is the first reported case of these types of congenital eye anomalies in an infant with this disease, which is called osteogenesis imperfecta and makes bones brittle and weak,” she says. “It was important to document our findings.”

The desire to know everything she can about how the eye develops and what can go wrong drives Dr. Bohnsack’s breakthrough work. On the faculty since 2012, she is successfully building a career in both patient care and research. She sees children in Kellogg’s Carls Pediatric Clinic, where she specializes in the management of congenital eye diseases. She also runs a laboratory studying the development of the front part of the eye.

In addition, she serves as the director of the pediatric ophthalmology fellowship programand is working with faculty members Cagri G. Besirli, M.D., Ph.D., and Peter F. Hitchcock, Ph.D., to create a center for congenital eye diseases.

“We are investigating the molecular roles of genes associated with congenital eye diseases. In addition, we are identifying new genes that are important in regulating eye development,” she says. “This work could lead to new insights that prevent blindness in children.”

Early Investments Dr. Bohnsack, who completed her ophthalmology residency and a postdoctoral research fellowship as a Knights Templar Scholar at Kellogg, has been recognized

with the field’s top awards for emerging clinicianscientists. They include career development grants from the National Eye Institute, the Research to Prevent Blindness Foundation, and the Alcon Research Institute.

At Kellogg, she has been named the Helmut F. Stern Career Development Professor of Ophthalmology and Visual Sciences, a position that provides flexible support for research and leadership activities, and she received seed funding from the Paul R. Lichter, M.D., Vision Research Discovery Fund to launch a collaborative project with a colleague. They are investigating the role of a specific gene that causes aniridia, a congenital disease that affects almost all eye tissues. These studies are a first step toward developing therapies that will someday prevent vision loss in congenital eye diseases.

Resources from the annual fund program were a critical component of Dr. Bohnsack’s laboratory funding this year.

“Together, all of these awards help me pursue my goal of preventing childhood blindness,” she says. “I am especially grateful and inspired to receive support from the patients and families we are serving.”

Fueling Innovation and Breakthrough Thinking

New Technology and Research Offer Hope for Visually Impaired For about $5, people who have difficulty seeing — including some who are legally blind — soon will be able to use their mobile phones and an inexpensive headset to visually enhance the world around them.

In the final stages of development, this technology will help individuals better identify objects, navigate their surroundings and understand written text.

increase contrast and brightness; invert color so that white text is on a black background; and push what is in the center of a scene out to the periphery, which will help people who have lost their central vision to diseases such as age-related macular degeneration.

Poised to improve lives in Michigan and around the world, the mobile application is being developed in the laboratory of Kwoon Y. Wong, Ph.D. — an assistant professor of Ophthalmology and Visual Sciences who holds a joint appointment with Molecular, Cellular and Developmental Biology in the College of Literature, Science, and the Arts — who this year was supported by the annual fund program. Olivia Walch, Ph.D., a postdoctoral fellow who has been mentored by Dr. Wong since her days as a beginning graduate student, created the app.

Walch is adding new features: text to speech; object identification; background attenuation; and the ability to bring images from the periphery of a scene to the center, for people who have lost vision on the periphery of their sight. The app should be available within a year and will cost about $3 to download, Dr. Wong says.

The program enables a smartphone to use its camera to capture a scene and enhance it in real time. Users view the improved scene through a three-dimensional virtual reality headset attached to the phone. Even cardboard versions work, and they can be purchased for about $2.

Improved Reality The headset displays an improved version of what is in front of the camera. The system can enhance edges;

“The world becomes better suited to individuals with low vision,” Dr. Wong says.

As groundbreaking as the project is, it is just one of several transformational lines of research the team is pursuing. Dr. Wong studies recently discovered, nonrod, non-cone photoreceptor cells that are important in regulating our subconscious physiological responses to light, such as synching our sleep patterns with light/dark cycles and enhancing our alertness.

Some people who are blind still have these cells, which are a small subset of retinal ganglion cells. Dr. Wong is in the very early stages of developing ways to manipulate these cells so they evoke conscious vision as well as subconscious photoresponses. “We are looking for ways to restore the ability to see,” he says. “We have some very exciting preliminary data that shows this approach might work.”

The team also is testing approaches to enhancing electric light so that it can more strongly stimulate the novel photoreceptor cells in everyday life, with positive results.

“If we can more strongly stimulate these ganglion-cell photoreceptors during the daytime, we will become more productive and be happier,” Dr. Wong says. “And when we go to bed, we will fall asleep more easily and stay asleep throughout the night.”

Dr. Wong is a 2016 recipient of the Pfizer Ophthalmics Carl Camras Translational Research Award, granted by the ARVO Foundation for Eye Research to recognize young researchers whose discoveries have the promise of leading to clinical application. And he received a 2016 Special Scholar Award from the Research to Prevent Blindness organization. He is grateful to be supported

by Kellogg’s annual funds as well — and pleased to share his lab’s successes. “We hope everyone is as enthusiastic about this work as we are,” he says.

Supporting Research at Critical Stages of Discovery

Advancing Toward New Therapies in Cancer and Thyroid Eye Disease It’s an exciting time in the laboratory of Associate Professor Alon Kahana, M.D., Ph.D. Two projects emanating from his research program are successfully transitioning his work with zebrafish models to a clinical trial and human tissue research. Both could soon lead to improved therapies for patients facing vision loss.

Dr. Kahana has conducted several years of research on the biological pathways involved in the development and regeneration of tissues involved in sight. So when biotechnology company Genetech introduced a drug that targets one of those pathways to treat a common skin cancer, Dr. Kahana recognized its potential when that cancer affects the eyelid and eye socket.

“In the worst cases, a patient ends up losing an eye or losing the ability to see out of that eye,” he says.

He is now working with Genetech and faculty throughout the University of Michigan Health System to conduct a first-of-its-kind clinical trial to test the effectiveness of the drug on basal cell carcinoma when it attacks tissues around the eye. He enrolls about one patient a month in the trial, he says.

“The preliminary results are very promising.”

Dr. Kahana’s partnership with colleagues in the Cancer Center has led to his work being leveraged to develop and test potential therapies for other cancers as well, including breast cancer.

Graves Disease Breakthrough In a second effort to translate basic science into therapies for patients with eye disease, Dr. Kahana is testing a discovery he made in zebrafish on eye tissue from his patients. He sees many patients with Graves disease in the Eye Plastic, Orbital and Facial Cosmetic Surgery Clinic at Kellogg. Graves disease is an autoimmune condition that causes the thyroid to produce too much thyroid hormone. When it affects the eyes, patients are at risk for blindness and disfigurement.

“Based on findings in patients with thyroid eye disease, my lab studied orbital development in zebrafish and in donated human orbital tissue to characterize how thyroid

hormone might trigger orbital inflammation in patients,” Dr. Kahana explains. “We discovered that in Graves disease, an endocrine trigger activates a molecular pathway in the orbit that essentially hijacks the immune system to initiate orbital inflammation and scarring.”

This new knowledge about what causes thyroid eye disease opens the door to many potential therapies that may enable physicians to prevent the condition from ever being triggered. Dr. Kahana works within our Thyroid Eye Disease Center, where our team includes orbital surgeons, strabismus surgeons, orthoptists and neuro-ophthalmologists. The group provides advanced, multidisciplinary care and is widely recognized for groundbreaking research on treatments for Graves eye disease and related autoimmune disorders.

Dr. Kahana could not have made these research advances without philanthropic support, he says. “The government supports basic science, but it is risk adverse when it comes to the thinking, the trying and the troubleshooting of translating basic science into clinical applications.

That’s where philanthropy comes in. Gifts from the annual fund program support my team, rather than a specific project. They enable truly innovative ideas to help patients with blinding conditions.”

Making Progress Possible

The following faculty members also received support from the annual funds this year.

Philip J. Gage, Ph.D.

Julia E. Richards, Ph.D.

Associate Professor of Ophthalmology and Visual Sciences Assistant Professor of Cell and Developmental Biology

Harold F. Falls Collegiate Professor of Ophthalmology and Visual Science, Medical School Professor of Epidemiology, School of Public Health Director, Glaucoma Research Center

Dr. Philip Gage studies the genes and regulatory networks that govern normal eye development and function. His accomplishments lead to the discovery of genes related to eye diseases and can guide the development of treatment innovations. This year, his team demonstrated that a specific gene could recreate the ocular features of Axenfeld-Rieger syndrome in the laboratory. The syndrome is a rare condition that affects the development of the eye, and the achievement could have implications for better understanding congenital glaucoma.

David C. Musch, Ph.D., M.P.H. Professor of Ophthalmology and Visual Sciences, Medical School Professor, Department of Epidemiology, School of Public Health

Dr. David Musch, an epidemiologist, specializes in recognizing patterns of disease in populations. He lends his expertise to faculty members researching all eye diseases, advising them on study design, data collection and data analysis. He also coordinates multicenter clinical trials and leads studies on treatment effectiveness, variation and outcomes. This year, Dr. Musch contributed to efforts to improve vision screenings for premature infants. He worked with colleagues to assess the geographic variation in strabismus diagnosis for children enrolled in Medicaid.

And he helped document that sight-threatening ocular diseases remain underdiagnosed among children of less affluent families. Such work could lead to changes in health policy that will enhance the vision of children across our population.

Annual Gifts Can Become a Legacy Your annual gifts to the Kellogg Eye Center make a tremendous difference in the progress researchers are able to achieve. Please consider continuing your commitment to improving the lives of people facing blinding eye diseases through a bequest.

Dr. Julia Richards’ work to identify the underlying causes of hereditary eye diseases has a wide reach, but her most significant impact has been on patients facing glaucoma, a class of diseases that is one of the leading causes of irreversible blindness in the United States.

Resources from the annual funds, coupled with gifts from private foundations and families, promoted significant progress in her laboratory in 2016. One key advancement was the identification of new targets that could lead to the discovery of additional genes that cause glaucoma.

“Discovering a new disease gene is an amazing thing,” says Dr. Richards. “We are looking for a typo in the genetic blueprint that no one in all of history has ever seen before.

To know that a first clue to solving this major health problem has been found with the help of those who most need to see glaucoma cured is very meaningful.”

Debra A. Thompson, Ph.D. Professor of Ophthalmology and Visual Sciences Professor of Biological Chemistry

Dr. Debra Thompson studies the molecular basis of inherited forms of retinal degeneration, a family of diseases that result in the death of rod and cone photoreceptor cells. These are the cells that convert light into electrical signals that are sent to the brain. This year, the annual fund program enabled Dr. Thompson’s laboratory team to advance understanding of these cells and identify potential new lines of investigation. The goal is to find new entry points for therapeutic intervention in diseases such as agerelated macular degeneration. “My laboratory is working with faculty at Kellogg and as part of a global consortium to help develop treatment strategies for retinal diseases,” Dr. Thompson says. “Support from our donors is helping us identify the scientific avenues that will make additional progress toward new sight-saving therapies possible.”

You may designate a specific amount or a percentage of your estate to vision research programs, and you may request that this gift be expendable or placed in an endowment that will fund research in your name for years to come.

Please call the Office of Development at 734-763-0875 or visit us online at www.kellogg.umich.edu to learn more about how we can work together to achieve the legacy you envision.