March 13, 2000
New UW medical division will seek causes, treatments of brain diseases
The University of Washington School of Medicine has opened a Division of Neurogenetics to study the root causes of hereditary diseases that rob people of their minds and bodies: the diseases that ravage the human brain and nervous system.
The new division is in the school’s Department of Neurology.
The division will build on the work of pioneers such as Dr. Thomas Bird, who has helped identify genes that lead to Alzheimer’s and other dementias. Bird, a professor of neurology in the UW School of Medicine, is a research neurologist with the Geriatric Research and Education Center at VA Puget Sound Health Care System in Seattle.
“The brain is what makes us human. You’re dealing with diseases that really impact the humanness of people: people’s memory, people’s behavior, people’s personalities,” Bird says. “That’s what people say about Alzheimer’s: the person is still there physically, but the person you knew is gone. You’ve been robbed of this human being even though the person is physically still there. These are very sad diseases. To be able to do something about them is important.”
“This new institutional emphasis on neurogenetics will create even more advantages for our researchers, who have already added greatly to knowledge in the field,” says Dr. Bruce Ransom, professor and chair of the Department of Neurology. “Our medical students and neurology trainees need to know more about this expanding field as we enter the 21st Century. The Division of Neurogenetics will lead the way in meeting this challenge.”
The division is physically headquartered in UW’s Center for Human Development and Disability, where Bird’s Neurogenetics Clinic is located. It is there that he and his staff meet with, test and counsel families suffering from neurologic illnesses that are identified with genetic connections. The clinic was the first neurogenetics clinic for adults in the United States when it was established in 1974.
The clinic continues to help people with conditions such as Huntington’s disease, a genetic brain disease; muscular dystrophy and hereditary nerve diseases; hereditary ataxias, which involve degeneration of the cerebellum, a part of the brain that governs coordination.
Bird and the clinic are also involved in the UW’s Alzheimer’s Disease
Research Center, funded by the National Institutes of Health and based at VA Puget Sound Health Care System in Seattle. Bird also serves on the scientific advisory board of the Jim Lambright Medical Research Foundation, which is headed by Jim and Lynne Lambright. Jim Lambright is a former UW Huskies football coach. Two of their children have the genetic illness Niemann-Pick Type C Disease, which causes progressive deterioration of the nervous system.
The division plans to recruit scientists for the new division.
Besides Bird, the faculty includes:
Dr. Phillip Chance, a professor of pediatrics and joint professor of neurology at UW and head of genetics at Children’s Hospital and Regional Medical Center. He does basic science research in genetic nerve diseases such as Charcot-Marie-Tooth’s Disease, a hereditary progressive neuromuscular disorder that primarily affects the feet, legs and hands. (It has nothing to do with teeth; it’s named for the doctors who discovered it). Chance found one of the genetic causes of a form of the disease. Chance is also doing research on the causes of a form of Lou Gehrig’s disease, or ALS.
Dr. Gerard Schellenberg, adjunct professor of neurology at UW, and associate director of the Geriatric Research and Education Center at VA Puget Sound Health Care System in Seattle. He’s one of the lead investigators in the Alzheimer’s Research Center. He and Bird have been directly involved in the discovery of three different genes for various kinds of dementia. Scientists have used this and other work to determine that certain proteins produced by those genes are involved in Alzheimer’s destructive decline. They’re now studying these and other factors that may eventually lead to a treatment for the disease.
Dr. Stephen Tapscott, an associate professor of neurology. His research is in muscle disease. He studies the genetic factors involved in myotonic muscular dystrophy, a multi-system disease that attacks the eyes, the brain, the muscles and the pancreas, gall bladder and intestines.
As members of the new division, the scientists and others will collaborate on research, education and care of neurogenetic diseases.
“If you know the genes and the proteins that cause the disease, that immediately leads to ideas about how you use that knowledge to try to change the disease. It opens up the whole intellectual field of having good ideas about how to treat these diseases — ideas no one had even a few years ago,” Bird says.
They face a tough challenge. The task is not so simple as finding one gene that always causes the same condition under all circumstances. Genes interact with the person’s entire genetic makeup, and with factors from different environments. For example, some people with a certain mutation get Alzheimer’s at age 40; others with the same mutation get it in their 70s.
So scientists are doing detective work: they have to scrutinize not only members of families, but also their individual chromosomes. They are always on the lookout for families to study, for adding to the pool of knowledge. Scientists get blood samples from all members of the family and study their DNA and various mutations to find looks to the disease involved.
“We see families at our clinic with these diseases. By molecular investigation, we learn more about what’s causing these diseases. And then hopefully that will allow treatments and preventions for the diseases that we can bring to the clinic and to our families,” Bird says.
Bird compares the rise of the science of neurogenetics to the attack on infectious disease that occurred in the last century.
“Seventy years ago, viruses and bacteria were being discovered, and all of a sudden there were hundreds of viruses and bacteria that had not been discovered before. They were causing disease, but people had to figure out how many there were, how they were causing diseases, and what we could do about it ? how we could stop them from killing people,” Bird says. “I think the same thing is happening with genetic diseases — except there will be thousands of them.”
Members of families that might be interested in getting assistance from a genetic clinic at UW can call the Medical Genetics Clinic office at 616-2135. More information about genetic diseases is available at an Internet Web site that is under development, www.geneclinics.org. The site is being developed by Dr. Roberta Pagon in the Department of Pediatrics in collaboration with Bird.
