It's no accident that Dessa Sadovnick has spent a lifetime studying multiple sclerosis (MS).
As a girl in Montreal, she had seen her mother raise money for the Multiple Sclerosis Society of Canada, organized fund-raising events at her school and witnessed first-hand the devastating effect of the illness on individuals and families.
"They say writers should write about what they know," says Sadovnick, a professor of Medical Genetics. "Well, I know about MS so when the time came to do my PhD, there was no doubt about what to investigate."
Sadovnick completed her doctorate at UBC in 1980 and started working as a research associate with Neurology Prof. Donald Paty, the director of multiple sclerosis research programs, in 1980. She joined the faculty in 1989.
After seeing so many families affected with the disease Sadovnick was convinced of a genetic link. That conviction resulted in the largest and most comprehensive database on family histories of MS in the world.
In the early '80s looking for a genetic component in MS was "an off the wall idea" according to Sadovnick. The accepted theory was that the familial aspect of the disease was due to shared environmental factors such as diet or viral illness.
Sadovnick began a collaboration with neurologist George Ebers at the University of Western Ontario and in 1993 they launched a Canada-wide study to establish whether or not MS is linked to an individual's genetic makeup.
Sadovnick and her team, working from UBC's clinic, gathered histories from patients registered at MS clinics across the country. More than 18,000 patients were screened and incorporated into various aspects of the collaborative study. More than 3,500 histories came from UBC MS clinic patients.
Clinical, genetic and epidemiological factors were recorded including family structure, ethnicity and family history of diseases and viruses.
Using the information from this database, the genetic link in MS was conclusively proven in 1996. Sadovnick and fellow researchers are continuing to build the database.
Sadovnick's MS research is used by scientists and physicians around the world. She has travelled from Russia to Brazil making presentations on the genetic origins of MS. She has also compiled a similar database on family histories of Alzheimer's disease.
Information from the MS database helps doctors identify high-risk individuals and start monitoring the disease even before symptoms begin.
There are an estimated 50,000 cases of MS in Canada -- a rate of 100 per 100,000 people. Primarily affecting individuals of Caucasian and northern European ancestry, the disease usually strikes between ages 20 and 40 and affects twice as many women as men.
MS causes the immune system to damage myelin, the sheath of fat and proteins that protects the nerves. Messages relayed through the nervous system get scrambled as a result and patients suffer loss of balance, muscle weakness, impaired speech, numbness, loss of vision and extreme fatigue.
Treatment consists of drugs to reduce the frequency and severity of attacks as well as medications and therapy to help the symptoms of the disease.
Prognosis is often difficult and many patients experience intermittent symptoms that create a roller-coaster ride of health and disability that is chaotic for families to deal with.
There is no simple predictive test for MS, Sadovnick emphasizes, but risk can be evaluated with the help of genetic counsellors. Sadovnick directs UBC's MSc program in genetic counselling.
"This is a disease that has implications for the whole family," says Sadovnick. "It's satisfying to me as a researcher that my work allows me to deal directly with patients and bring that clinical information to my studies. I know these people -- it's a real advantage over investigation based solely on lab work."
Next steps in Sadovnick's research include trying to identify the gene or genes responsible and determining non-genetic factors contributing to the disease. Once the genetic mechanism is understood scientists can work towards improved treatment and prevention.
"I have no thoughts of retiring," she says. "I've been involved with this disease since I was a child -- it's close to my heart."
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