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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