Dr. Züchner Receives Hope for Vision Scientist of the Year Award

Hope for Vision, an organization that funds scientific research to develop treatments and cures for blinding retinal diseases, honored Stephan Züchner, M.D., director of the Center for Human Molecular Genomics at the John P. Hussman Institute for Human Genomics and associate professor in the Dr. John T. Macdonald Foundation Department of Human Genetics, with the “Scientist of the Year” award at its Party with a Purpose on September 10.

In 2010, Dr. Züchner and a team of UM researchers identified the genetic cause of the retinitis pigmentosa that blinded three of Betti and Carlos Lidsky’s four children. This was achieved by a collaborative effort between the Bascom Palmer Eye Institute, the John P. Hussman Institute for Human Genomics, and the Departments of Biology and Biochemistry and Molecular Biology. The investigators found a new biochemical pathway associated with retinitis pigmentosa that holds promise for developing new avenues of therapeutic interventions.

The Lidsky family had been searching for a genetic cause of the disease for 18 years.

“Stephan not only found our gene but in doing so has revolutionized the approach to discovering genes,” said Betti Lidsky.

Jeffery M. Vance, M.D., Ph.D., chair of the Department of Human Genetics, called Dr. Züchner a “natural collaborator.”

“Stephan is truly deserving of this award,” said Dr. Vance. “He has vision to see how new ideas and approaches can be used to further the research on genetic disease. He was able to bring together the many disciplines needed to move ahead this research on retinitis pigmentosa, in the collaborative way that all new research in our field aspires to.”

Margaret A. Pericak-Vance, Ph.D., director of the John P. Hussman Institute for Human Genomics, said Dr. Züchner’s innovative style makes him stand out.

“Stephan is always thinking outside of the box. He never accepts that something cannot be done. He always finds a way. He is innovative and original, the markings of a truly great scientist.”

To identify the gene responsible for retinitis pigmentosa in the Lidsky family, Züchner and colleagues used a new technology known as whole exome sequencing, which thoroughly investigates the coding portions of an individual’s genetic material. The RP gene identified in the Lidsky family codes for an enzyme known as dehydrodolichol diphosphate synthase or DHDDS, which is thought to play a role in how a light-sensing protein named rhodopsin works.

Dr. Züchner said the award not only recognizes his work, but also the team’s.

“To me the award means strong reassurance of our approach to human genetics. The early embrace of next-generation sequencing technology at the Hussman Institute had its risks at the time, but is paying off now in wonderful ways,” he said. “In that sense I received the award for a team of UM scientists across campus, each of whom was crucial for the success of our recent retinitis pigmentosa study.”

Dr. Züchner is a neurologist and molecular biologist with extensive experience in mapping Mendelian diseases and cloning causal genes. His extensive work on Charcot-Marie-Tooth disease has led to the recent identification of causal mutations for two types of CMT. His current work focuses on molecular neurogenetics and psychiatric genetics.

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