Kellogg’s Victor Elner, M.D., Ph.D., and Alan Sugar, M.D., flank Gerard Mourou, Ph.D., recently selected as the 2002 Henry Russel Lecturer. Mourou, a professor in electrical engineering and computer sciences, has close associations with Kellogg researchers who are interested in applying ultrafast laser technology to eye surgery.
University of Michigan Kellogg Eye Center | 1000 Wall Street, Ann Arbor, MI 48105 | 734.763.8122
Copyright © Regents of the University of Michigan
|
|||
|
|
 |
|||||||||||||||
| Clues to glaucoma could come from West Africa
Dr. Bromley’s interest in identifying glaucoma genes started during a medical mission trip to Ghana in 1977, where he observed severe cases of glaucoma and its tendency to occur in families. He has returned to Ghana several times, bringing blood samples back to Kellogg for genetic testing. His research is supported by the Center for Human Genetics in Bar Harbor, Maine. Dr. Richards believes this research could help narrow the search for genes that cause glaucoma. She notes that glaucoma occurs more frequently and more severely among African Americans, and that genetics is an important factor. Because many African Americans can trace their ancestry to western Africa, the genetic information collected there is highly relevant to the U.S. population. Dr. Bromley has worked with one family whose members have experienced a high incidence of glaucoma over several generations. He has even been able to find distant relatives who would be hard to trace in the geographically dispersed populations of the big cities along the Ghana coast or in the U.S. Once researchers find the gene that causes glaucoma in this family, they can use it as a tool to study glaucoma in that region of Africa and, eventually, ask what role that gene may play in the U.S. population. Evaluating glaucoma treatment Ophthalmologists have long debated whether glaucoma surgery or medication is the best initial treatment for patients. The disease affects at least one million people in the U.S. Paul R. Lichter, M.D., has released findings from the first five years of a long-term study to determine which approach is more effective for patients with glaucoma. So far, although too soon for final conclusions, medications and surgery appear to be equally effective initial treatments for newly diagnosed open-angle glaucoma. The results appeared in the November 2001 issue of Ophthalmology. The study also looks at patients’ views on how treatments affect quality of life. In glaucoma, where the disease and its treatment can have an effect on the entire person, it is important to measure the patient’s perceptions beyond vision. The more general aspects of each patient’s life need to be taken into account when evaluating whether treatment is successful. After the first five years of following study patients, the quality of life in the two different groups (medicine and surgery) was remarkably similar. The surgery group patients reported in somewhat greater numbers feeling as though they had something in their eye or experienced a droopy eyelid but these slight differences in quality of life symptoms between the two groups diminished over time. Inherited disease of the retina Basic genetics tells us that it takes two chromosomes—one from each parent, with each carrying the same mutation—to cause an autosomal recessive disease. Some years ago researchers found a variation of this rule; in rare cases, a child can carry a chromosomal pair from a single parent. The condition is known as uniparental disomy (UPD). Now Kellogg researchers have found the first known cases of UPD resulting in retinal degeneration. Debra A. Thompson, Ph.D., led the study, which was published in the January issue of the American Journal of Human Genetics. Dr. Thompson found UPD in two patients with diseases of the retina, one a 51-year-old man diagnosed with a severe early-onset form of retinal degeneration known as Leber congenital amaurosis. The other is a 34-year-old mother of two healthy children, who was diagnosed with retinitis pigmentosa at 12 years of age. According to Dr. Thompson, UPD is so rare that the greatest use for these findings will be in genetic counseling. A counselor, for example, would be able to advise the parents of a child affected with retinal degeneration due to UPD that it is extremely unlikely that siblings would also be affected. Finding the molecular switch for rods A paper published in November’s Nature Genetics offers new insights into the development and differentiation of rod and cone photoreceptors, the light-sensitive cells in the eye’s retina that initiate vision and are essential for clear sight. A team led by Anand Swaroop, Ph.D., has demonstrated that the retinal protein Nrl is required for rod development and, in fact, acts as a “molecular switch,” signaling the cells to develop into rods rather than cones. Working with Swaroop, Alan J. Mears, Ph.D., deleted the gene that makes Nrl in mice, creating an Nrl-knockout strain that developed a retina without rod photoreceptors. “These findings are important because they will allow us to understand how rods are formed, and more importantly how we can save the cones,” says Dr. Swaroop. “We may eventually be able to pinpoint ways to intervene with gene or drug therapy to treat certain types of vision loss.” A better understanding of rods and cones may help researchers treat retinitis pigmentosa and macular degeneration, two major eye diseases that involve loss of photoreceptors, resulting in slow but progressive vision loss. |
|
University of Michigan Kellogg Eye Center | 1000 Wall Street, Ann Arbor, MI 48105 | 734.763.8122
Copyright © Regents of the University of Michigan |