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Medical Research: Genetic Roots to Mental Illness
A clue to schizophrenia' s elusive cause
Son's diagnosis spurred cancer specialist to refocus his efforts
Andre Picard 03/05/07
John Roder was an internationally recognized cancer researcher doing groundbreaking work with "killer cells" that could be dispatched to seek out and destroy cancerous cells in the body.
But when he learned his son Nathan was suffering from schizophrenia, Dr. Roder dropped everything and turned his attention to understanding the complex brain disorder.
The about-face was unusual, particularly moving from cancer, a high-profile, richly funded area, to mental health, which is underfunded, marginalized and cloaked in stigma.
But the move is now paying dividends in a big way.
In a paper to be published today in the journal Neuron, Dr. Roder, a senior investigator at the Samuel Lunenfeld Research Institute at Mount Sinai Hospital in Toronto, along with a team of Canadian and Scottish scientists, has pinpointed one of the elusive genetic causes of schizophrenia.
The article, "Behavioral phenotypes of Disc1 missense mutations in mice," demonstrates for the first time that a malfunctioning gene can cause the disorder. Further, it offers a tantalizing clue that the big three psychiatric disorders - depression, bipolar disorder and schizophrenia - may have the same underlying genetic cause.
"From a psychiatric point of view, that's important. It could change the way we think about diagnosis and open the door to new treatments," Dr. Roder said.
But, he added wistfully, "It's not a cure."
In other words, this breakthrough won't help Nathan, at least not in the short term.
"I'm realistic. I know that my research is mostly for others. If there's a payoff for my son, it won't be tomorrow. It may be five or 10 years away," Dr. Roder said.
Still, the high-profile paper does provide validation for the sharp turn in his career trajectory, and a bit of hope in an area where good news is in short supply.
By his own admission, Dr. Roder said, "You would have to be 'crazy' yourself to work in the mental health field without personal motivation."
His motivation was a teenaged son gripped by a cruel disease.
Nathan was an excellent student, but near the end of his high-school years in 2001, he began acting strangely, with odd gesticulations and quirky theories.
"Suddenly, I knew all the answers to the questions of the universe," he said in an interview. "But I was oblivious to how weird I was being."
A school friend recognized the signs and symptoms of schizophrenia, an illness characterized by delusions, hallucinations and disturbances in thinking, and which usually develops into a full-blown illness in late adolescence.
Nathan got help quickly and has largely controlled his illness with medication. He is an accomplished musician and studied computer programming in college but, at age 25, still lives at home and is unable to hold down a full-time job.
The diagnosis devastated his parents.
"You have hopes and dreams for your kids and they don't include schizophrenia, " said Mary-Lou Roder, Nathan's mother. "It took a while to accept that this would be a long-term illness and a lifetime commitment on our part."
But Mrs. Roder said she also realized that as an educated, well-to-do family, they also had the means to help break the stigma surrounding mental illness, and schizophrenia in particular.
"You just have to be brave enough to say we have this illness in our family and it's amazing how people open up," she said.
According to the Schizophrenia Society of Canada, about 300,000 Canadians, or 1 per cent of the population, will suffer from the illness. The media image of schizophrenics is that of crazed killers, but the reality is that most are lost souls, and the greatest harm they do is to themselves.
While Mrs. Roder became a caregiver for her son and an advocate for others suffering from mental-health problems, Dr. Roder's coping mechanism was to turn to what he knew best - science.
"The only thing I could do was change my research focus," he said. "I thought I could make a difference."
The practical result was a dramatic downsizing of his lab, scrounging for research funding when it was once plentiful, and participating in sparsely attended mental-health awareness walks instead of running in high-profile Terry Fox runs.
"You could say it wasn't a great career move," Dr. Roder deadpanned. "Mental health is where cancer was 30 years ago."
James Woodgett, director of research at the Samuel Lunenfeld Research Institute, and Dr. Roder's boss, said people don't realize how difficult it is to jump from one field to another in the hyperspecialized world of basic science research.
"John has gone from being a world-renowned expert in one area to being a world-renowned expert in another, and he's done it in just a few years.
"It's pretty inspirational. "
Dr. Woodgett said that Dr. Roper's success is due to his bringing "fresh eyes" to a field with a lot of preconceived notions.
"He's brought the discipline of genetic analysis to this area that is often touchy-feely, " he said.
But the most important accolade Dr. Roder has received for his work has not come from the editor of a scientific journal, from those who fund his research, from his peers, or from his bosses. Rather, it has come from his son.
"Half of what he says goes over my head, but I'm happy he's doing research in this area," Nathan said.
"I know he's doing this for me, and I'm pretty proud of him."
*****
DEVASTATING DISEASE
Schizophrenia is a complex mental disorder marked by personality and behaviour changes. Early warning signs may include:
Withdrawal from activities and social contacts;
Irrational, angry or fearful responses to friends and family;
Deterioration in studies or work;
Delusions, off-the-wall ideas and inappropriate use of language;
Sudden excesses, such as extreme religiosity, extreme activity;
Deterioration in personal hygiene;
Difficulty controlling thoughts, difficulty concentrating;
Visual and auditory hallucinations;
Paranoia: a constant feeling of being watched;
Inability to turn off the imagination.
About one in every 100 people has schizophrenia, a disease that usually strikes in late adolescence or early adulthood.
The precise causes are unknown but, like most mental illnesses, there appears to be some combination of genetic predisposition, environmental influences and triggers such as stress.
The symptoms of schizophrenia can be largely controlled with anti-psychotic medication, but one of the characteristics of the illness is an unwillingness to get treatment. (The drugs can also have unpleasant side effects.)
The economic cost of schizophrenia is estimated at $4-billion-a- year in Canada.
Source: Schizophrenia Society of Canada
A clue to schizophrenia' s elusive cause
Son's diagnosis spurred cancer specialist to refocus his efforts
Andre Picard 03/05/07
John Roder was an internationally recognized cancer researcher doing groundbreaking work with "killer cells" that could be dispatched to seek out and destroy cancerous cells in the body.
But when he learned his son Nathan was suffering from schizophrenia, Dr. Roder dropped everything and turned his attention to understanding the complex brain disorder.
The about-face was unusual, particularly moving from cancer, a high-profile, richly funded area, to mental health, which is underfunded, marginalized and cloaked in stigma.
But the move is now paying dividends in a big way.
In a paper to be published today in the journal Neuron, Dr. Roder, a senior investigator at the Samuel Lunenfeld Research Institute at Mount Sinai Hospital in Toronto, along with a team of Canadian and Scottish scientists, has pinpointed one of the elusive genetic causes of schizophrenia.
The article, "Behavioral phenotypes of Disc1 missense mutations in mice," demonstrates for the first time that a malfunctioning gene can cause the disorder. Further, it offers a tantalizing clue that the big three psychiatric disorders - depression, bipolar disorder and schizophrenia - may have the same underlying genetic cause.
"From a psychiatric point of view, that's important. It could change the way we think about diagnosis and open the door to new treatments," Dr. Roder said.
But, he added wistfully, "It's not a cure."
In other words, this breakthrough won't help Nathan, at least not in the short term.
"I'm realistic. I know that my research is mostly for others. If there's a payoff for my son, it won't be tomorrow. It may be five or 10 years away," Dr. Roder said.
Still, the high-profile paper does provide validation for the sharp turn in his career trajectory, and a bit of hope in an area where good news is in short supply.
By his own admission, Dr. Roder said, "You would have to be 'crazy' yourself to work in the mental health field without personal motivation."
His motivation was a teenaged son gripped by a cruel disease.
Nathan was an excellent student, but near the end of his high-school years in 2001, he began acting strangely, with odd gesticulations and quirky theories.
"Suddenly, I knew all the answers to the questions of the universe," he said in an interview. "But I was oblivious to how weird I was being."
A school friend recognized the signs and symptoms of schizophrenia, an illness characterized by delusions, hallucinations and disturbances in thinking, and which usually develops into a full-blown illness in late adolescence.
Nathan got help quickly and has largely controlled his illness with medication. He is an accomplished musician and studied computer programming in college but, at age 25, still lives at home and is unable to hold down a full-time job.
The diagnosis devastated his parents.
"You have hopes and dreams for your kids and they don't include schizophrenia, " said Mary-Lou Roder, Nathan's mother. "It took a while to accept that this would be a long-term illness and a lifetime commitment on our part."
But Mrs. Roder said she also realized that as an educated, well-to-do family, they also had the means to help break the stigma surrounding mental illness, and schizophrenia in particular.
"You just have to be brave enough to say we have this illness in our family and it's amazing how people open up," she said.
According to the Schizophrenia Society of Canada, about 300,000 Canadians, or 1 per cent of the population, will suffer from the illness. The media image of schizophrenics is that of crazed killers, but the reality is that most are lost souls, and the greatest harm they do is to themselves.
While Mrs. Roder became a caregiver for her son and an advocate for others suffering from mental-health problems, Dr. Roder's coping mechanism was to turn to what he knew best - science.
"The only thing I could do was change my research focus," he said. "I thought I could make a difference."
The practical result was a dramatic downsizing of his lab, scrounging for research funding when it was once plentiful, and participating in sparsely attended mental-health awareness walks instead of running in high-profile Terry Fox runs.
"You could say it wasn't a great career move," Dr. Roder deadpanned. "Mental health is where cancer was 30 years ago."
James Woodgett, director of research at the Samuel Lunenfeld Research Institute, and Dr. Roder's boss, said people don't realize how difficult it is to jump from one field to another in the hyperspecialized world of basic science research.
"John has gone from being a world-renowned expert in one area to being a world-renowned expert in another, and he's done it in just a few years.
"It's pretty inspirational. "
Dr. Woodgett said that Dr. Roper's success is due to his bringing "fresh eyes" to a field with a lot of preconceived notions.
"He's brought the discipline of genetic analysis to this area that is often touchy-feely, " he said.
But the most important accolade Dr. Roder has received for his work has not come from the editor of a scientific journal, from those who fund his research, from his peers, or from his bosses. Rather, it has come from his son.
"Half of what he says goes over my head, but I'm happy he's doing research in this area," Nathan said.
"I know he's doing this for me, and I'm pretty proud of him."
*****
DEVASTATING DISEASE
Schizophrenia is a complex mental disorder marked by personality and behaviour changes. Early warning signs may include:
Withdrawal from activities and social contacts;
Irrational, angry or fearful responses to friends and family;
Deterioration in studies or work;
Delusions, off-the-wall ideas and inappropriate use of language;
Sudden excesses, such as extreme religiosity, extreme activity;
Deterioration in personal hygiene;
Difficulty controlling thoughts, difficulty concentrating;
Visual and auditory hallucinations;
Paranoia: a constant feeling of being watched;
Inability to turn off the imagination.
About one in every 100 people has schizophrenia, a disease that usually strikes in late adolescence or early adulthood.
The precise causes are unknown but, like most mental illnesses, there appears to be some combination of genetic predisposition, environmental influences and triggers such as stress.
The symptoms of schizophrenia can be largely controlled with anti-psychotic medication, but one of the characteristics of the illness is an unwillingness to get treatment. (The drugs can also have unpleasant side effects.)
The economic cost of schizophrenia is estimated at $4-billion-a- year in Canada.
Source: Schizophrenia Society of Canada
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