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Huntington?s disease does not keep Mount Sinai scientist from brilliant work
By Leslie Scrivene
Fri Feb 01 2013
John Roder, the subject of a TVO documentary, has a full life as a neurobiologist even though he has had Huntington's disease for 17 years.
For years, John Roder and Tony Pawson, top scientists at Mount Sinai Hospital?s Samuel Lunenfeld Research Institute, were well-matched competitors on the squash court. Until Pawson began crushing his opponent.
This would have been a terrific development for Pawson ? ?I?m getting better,? he hoped ? except that he had also noticed subtle changes in his colleague. Roder?s jerky hand gestures and erratic gait meant something was amiss, so in time Pawson asked: ?What?s wrong??
Roder, a neurobiologist, revealed what he had kept hidden from his co-workers for seven years: he had Huntington?s disease, a rare, incurable, inherited neurological disorder that strikes in early middle age. Caused by a mutant protein, the disease brings brain cell death, affects cognition and mobility, and progresses with age ? it?s like having Alzheimer?s disease, schizophrenia and ALS all at once.
But Roder?s answer was also playful: ?This casts a whole new light on all those squash games you?ve been winning.?
Roder had kept his secret, he now says, because, ?I wasn?t sure about my work ? what would happen??
He needn?t have feared. Though symptoms of the disease have advanced since he came out about 10 years ago ? his speech is indistinct, his arms dance, and at a glance he might look drunk or as if he has an intellectual disability ? he continues to work.
But not just work. ?It?s more than making a contribution,? says Pawson, a cell biologist and one of the world?s most esteemed medical researchers. ?He?s doing exceptional science that is internationally recognized. It?s very important in the world of neurobiology and has implications beyond that for people interested in human behaviour.?
You could think of Roder as ?unfortunate, suffering a terrible disease?, he adds, but ?I think of him as an inspiring scientist.?
Roder and several others with Huntington?s disease are the subject of a moving documentary about making a decision to have genetic testing. Do You Really Want to Know? airs Wednesday on TVO. About 21,000 Canadians currently have the disorder or carry the single-gene mutation and will get it. Everyone who carries the gene will get Huntington?s; there?s a 50-per-cent chance of passing it to your children.
Both Roder?s grandfather and father had Huntington?s ? the latter died at age 57. It had been terrible watching the last years of his father?s life, first in a group home and then in a psychiatric hospital. It?s the only benchmark the Roders have for the progress of the disease. Roder is now 62, and his wife, Mary-Lou, a retired elementary school teacher, is surprised at how much her husband can still do.
?I ignore the fact that I am sick,? he says in an interview in the family?s condominium, a short walk from Mount Sinai, where he is a senior investigator and Canada Research Chair in learning and memory. ?When I go to work, I pretend that I am normal.?
Joe Culotti is a neurobiologist who remembers when Roder hired him 27 years ago. ?He was on top of everything,? Culotti recalls. ?Very efficient and an excellent mentor for students. He was adept technically and did very good hands-on work at the lab. A very bright guy.?
He is still that man, Culotti says, though strangers don?t perceive it. ?Everyone assumes when they see someone like that their mental capacities have deteriorated. Then they start to infantilize that person. It?s not really fair, especially in this situation.
?It?s amazing how he comes in every day and he just works. Really hard. He?s got a really good research program and I?d say in the last five years, it?s the best work he?s ever done.?
The gene for Huntington?s was not identified until 1993. Two years later Roder was tested. ?I remember how devastated he was,? Mary-Lou Roder says.
By that time, the couple had two children. They?d wanted a family and conceived, hoping for the best.
Jessica, whose married name is Robertson, is now 36 while Nathan is 31, and both have tested negative for the gene.
?In our family, this is an end to it,? says Mary-Lou.
Only 12 to 14 per cent of those at 50-per-cent risk of the disorder undergo genetic testing, according to a study in Northern Ireland published in the Lancet in 2010. Testing produces a minefield of worry ? people fear they will lose their jobs or insurance benefits. (Roder still has some coverage.) ?It is important to read the fine print, because there are insurance companies that very specifically ask in the application about HD in the family medical history,? Mary-Lou notes.
Canada is the only G-8 country that doesn?t protect its citizens against genetic discrimination, says Bev Heim-Myers, head of the Huntington Society of Canada. ?It?s discrimination based on your genome ? often it?s based on a perceived future disability.?
Some facing the 50 per cent risk, such as Arlo Guthrie, the folk singer and son of Woody Guthrie, who died of Huntington?s, chose not to be tested.
Roder?s daughter waited to be tested until she was 32. Not knowing her future was motivating and liberating, she says. She?d seen a similar quality in her father.
?Knowing he might have it made him work extra hard in a sense to achieve more in a short time, to push himself harder. For me, it made me more free to live in the moment.
?I didn?t let it control my life,? says Robertson, who runs a sustainable and edible landscape design firm. ?You never know what could happen ? you could be hit by a bus.?
But she concedes things changed ?when I decided I wanted to have children. Suddenly I needed to know.?
(Some with Huntington?s who want children conceive using an embryo-selection process called pre-implantation genetic diagnosis, in which embryos are tested and those free of the genetic mutation are implanted in the mother?s womb.)
The Roder parents flew out to Edmonton, where Robertson was then living, to be with her when she got the results of her test. ?They were waiting in the apartment and my dad, his legs just collapsed. He kind of fell down with relief.?
Robertson now has a five-month old daughter.
Her younger brother passed on early testing, too. Nathan Roder was diagnosed with schizophrenia when he was 19. His mother discouraged the Huntington?s test because she didn?t want Nathan to be stressed by two serious conditions.
?I waited four or five years, and then I just wanted to know,? says Nathan, who plays violin in the Corktown Chamber Orchestra and works a hotdog stand outside Mount Sinai.
His location has been handy for tracking his independent-minded father on his daily walks from work or home. If Roder hasn?t returned within a half-hour of leaving, Mary-Lou can ask if Nathan has seen him.
Roder?s stubborn, battling personality has likely helped him live and succeed with the disease. But he?s also ended up in emergency, with head cuts and fractures, from driving himself hard while exercising. And well-meaning people, finding him outside ? eating a sandwich and soaking up the sunshine summer and winter ? have assumed he?s unable to look after himself and tried to drag him indoors or call 911.
The disease has been hard on the family ? Robertson moved out for a while when she was a teenager because of her dad?s depression and angry outbursts, which had not been in his nature before onset. Anti-depressants allayed the symptoms.
But now, sitting around the table with the Roders when the Roders get together around the dining table, there isn?t an air of gloom, but instead a lot of joking, everyone talking at once, and pleas to let the speaker finish a sentence. ?We try to laugh things off,? says Robertson, who lives in London, Ont.
When Nathan was diagnosed, Roder changed the focus of his research from immunology to neurobiology and now works toward finding treatments for mental disorders such as schizophrenia, epilepsy and depression. His 2007 work, developing a mouse model for schizophrenia, is considered groundbreaking.
?Because of my son, it?s one of the things that motivates me to keep going,? he says.
His recent output is prodigious and, say his colleagues, impressive. In the past two years, he?s co-authored 27 scientific papers. The most recent, how social context affects learning and memory in mice, was published in Neuropharmacology in January.
Roder reads about 100,000 research studies a year and earmarks them for his students. He continues to apply for and get research grants. Colleagues get used to his impaired speech in about a month, he says.
?If I retired and didn?t have such challenging work, I think I?d be dead,? he says. ?I think it (creates) more plasticity in my brain.?
Now, there?s hope that treatment for the disease is closer than ever. This year, for the first time, there will be clinical trials of drugs for Huntington?s disease in the U.S., says Ray Truant, a professor of biochemistry and biomedical sciences at McMaster University.
Some of the most promising research has come from the University of Alberta lab of Simonetta Sipione, who said in a 2012 study that she had halted the disease in mice. ?It?s the most striking thing anyone has ever seen,? says Truant, who worked with Sipione on the study. ?Not only did the treatment stop the disease, but it reverted the mouse to normal.?
Sipione injected mice with a brain molecule, GM1, which healthy people have in small amounts but is almost non-existent in people with Huntington?s. The mice had normal motor function for two weeks after the treatment but reverted without the medication. ?They are very promising in mouse models, but mice are not people.? Truant cautions. ?There?s a big difference.? Trials may begin on humans in 2014.
Roder?s and Truant?s work has intersected. Roder was chair of Truant?s PhD defence at the University of Toronto. ?Twelve years later, I had a workshop on Huntington ?s disease and was absolutely shocked to see he was the invited patient.?
Roder?s work was well-known to him. ?His mouse model has been one of the most valuable tools for understanding this disease.?
In his lectures to lay people, Truant stresses the importance of research into Huntington?s disease, because it can also be applied to more common disorders such as Alzheimer?s. which affects about a half million Canadians. The incidence is expected to soar as baby boomers age.
It?s for these reasons ? the need for research, increased awareness and policy changes ? that Roder and his family have been so open about their experiences with Huntington?s disease.
Roder still sees at least a few years of research ahead of him. He?d like to work until 65, his wife says. ?Even longer,? he protests.
By Leslie Scrivene
Fri Feb 01 2013
John Roder, the subject of a TVO documentary, has a full life as a neurobiologist even though he has had Huntington's disease for 17 years.
For years, John Roder and Tony Pawson, top scientists at Mount Sinai Hospital?s Samuel Lunenfeld Research Institute, were well-matched competitors on the squash court. Until Pawson began crushing his opponent.
This would have been a terrific development for Pawson ? ?I?m getting better,? he hoped ? except that he had also noticed subtle changes in his colleague. Roder?s jerky hand gestures and erratic gait meant something was amiss, so in time Pawson asked: ?What?s wrong??
Roder, a neurobiologist, revealed what he had kept hidden from his co-workers for seven years: he had Huntington?s disease, a rare, incurable, inherited neurological disorder that strikes in early middle age. Caused by a mutant protein, the disease brings brain cell death, affects cognition and mobility, and progresses with age ? it?s like having Alzheimer?s disease, schizophrenia and ALS all at once.
But Roder?s answer was also playful: ?This casts a whole new light on all those squash games you?ve been winning.?
Roder had kept his secret, he now says, because, ?I wasn?t sure about my work ? what would happen??
He needn?t have feared. Though symptoms of the disease have advanced since he came out about 10 years ago ? his speech is indistinct, his arms dance, and at a glance he might look drunk or as if he has an intellectual disability ? he continues to work.
But not just work. ?It?s more than making a contribution,? says Pawson, a cell biologist and one of the world?s most esteemed medical researchers. ?He?s doing exceptional science that is internationally recognized. It?s very important in the world of neurobiology and has implications beyond that for people interested in human behaviour.?
You could think of Roder as ?unfortunate, suffering a terrible disease?, he adds, but ?I think of him as an inspiring scientist.?
Roder and several others with Huntington?s disease are the subject of a moving documentary about making a decision to have genetic testing. Do You Really Want to Know? airs Wednesday on TVO. About 21,000 Canadians currently have the disorder or carry the single-gene mutation and will get it. Everyone who carries the gene will get Huntington?s; there?s a 50-per-cent chance of passing it to your children.
Both Roder?s grandfather and father had Huntington?s ? the latter died at age 57. It had been terrible watching the last years of his father?s life, first in a group home and then in a psychiatric hospital. It?s the only benchmark the Roders have for the progress of the disease. Roder is now 62, and his wife, Mary-Lou, a retired elementary school teacher, is surprised at how much her husband can still do.
?I ignore the fact that I am sick,? he says in an interview in the family?s condominium, a short walk from Mount Sinai, where he is a senior investigator and Canada Research Chair in learning and memory. ?When I go to work, I pretend that I am normal.?
Joe Culotti is a neurobiologist who remembers when Roder hired him 27 years ago. ?He was on top of everything,? Culotti recalls. ?Very efficient and an excellent mentor for students. He was adept technically and did very good hands-on work at the lab. A very bright guy.?
He is still that man, Culotti says, though strangers don?t perceive it. ?Everyone assumes when they see someone like that their mental capacities have deteriorated. Then they start to infantilize that person. It?s not really fair, especially in this situation.
?It?s amazing how he comes in every day and he just works. Really hard. He?s got a really good research program and I?d say in the last five years, it?s the best work he?s ever done.?
The gene for Huntington?s was not identified until 1993. Two years later Roder was tested. ?I remember how devastated he was,? Mary-Lou Roder says.
By that time, the couple had two children. They?d wanted a family and conceived, hoping for the best.
Jessica, whose married name is Robertson, is now 36 while Nathan is 31, and both have tested negative for the gene.
?In our family, this is an end to it,? says Mary-Lou.
Only 12 to 14 per cent of those at 50-per-cent risk of the disorder undergo genetic testing, according to a study in Northern Ireland published in the Lancet in 2010. Testing produces a minefield of worry ? people fear they will lose their jobs or insurance benefits. (Roder still has some coverage.) ?It is important to read the fine print, because there are insurance companies that very specifically ask in the application about HD in the family medical history,? Mary-Lou notes.
Canada is the only G-8 country that doesn?t protect its citizens against genetic discrimination, says Bev Heim-Myers, head of the Huntington Society of Canada. ?It?s discrimination based on your genome ? often it?s based on a perceived future disability.?
Some facing the 50 per cent risk, such as Arlo Guthrie, the folk singer and son of Woody Guthrie, who died of Huntington?s, chose not to be tested.
Roder?s daughter waited to be tested until she was 32. Not knowing her future was motivating and liberating, she says. She?d seen a similar quality in her father.
?Knowing he might have it made him work extra hard in a sense to achieve more in a short time, to push himself harder. For me, it made me more free to live in the moment.
?I didn?t let it control my life,? says Robertson, who runs a sustainable and edible landscape design firm. ?You never know what could happen ? you could be hit by a bus.?
But she concedes things changed ?when I decided I wanted to have children. Suddenly I needed to know.?
(Some with Huntington?s who want children conceive using an embryo-selection process called pre-implantation genetic diagnosis, in which embryos are tested and those free of the genetic mutation are implanted in the mother?s womb.)
The Roder parents flew out to Edmonton, where Robertson was then living, to be with her when she got the results of her test. ?They were waiting in the apartment and my dad, his legs just collapsed. He kind of fell down with relief.?
Robertson now has a five-month old daughter.
Her younger brother passed on early testing, too. Nathan Roder was diagnosed with schizophrenia when he was 19. His mother discouraged the Huntington?s test because she didn?t want Nathan to be stressed by two serious conditions.
?I waited four or five years, and then I just wanted to know,? says Nathan, who plays violin in the Corktown Chamber Orchestra and works a hotdog stand outside Mount Sinai.
His location has been handy for tracking his independent-minded father on his daily walks from work or home. If Roder hasn?t returned within a half-hour of leaving, Mary-Lou can ask if Nathan has seen him.
Roder?s stubborn, battling personality has likely helped him live and succeed with the disease. But he?s also ended up in emergency, with head cuts and fractures, from driving himself hard while exercising. And well-meaning people, finding him outside ? eating a sandwich and soaking up the sunshine summer and winter ? have assumed he?s unable to look after himself and tried to drag him indoors or call 911.
The disease has been hard on the family ? Robertson moved out for a while when she was a teenager because of her dad?s depression and angry outbursts, which had not been in his nature before onset. Anti-depressants allayed the symptoms.
But now, sitting around the table with the Roders when the Roders get together around the dining table, there isn?t an air of gloom, but instead a lot of joking, everyone talking at once, and pleas to let the speaker finish a sentence. ?We try to laugh things off,? says Robertson, who lives in London, Ont.
When Nathan was diagnosed, Roder changed the focus of his research from immunology to neurobiology and now works toward finding treatments for mental disorders such as schizophrenia, epilepsy and depression. His 2007 work, developing a mouse model for schizophrenia, is considered groundbreaking.
?Because of my son, it?s one of the things that motivates me to keep going,? he says.
His recent output is prodigious and, say his colleagues, impressive. In the past two years, he?s co-authored 27 scientific papers. The most recent, how social context affects learning and memory in mice, was published in Neuropharmacology in January.
Roder reads about 100,000 research studies a year and earmarks them for his students. He continues to apply for and get research grants. Colleagues get used to his impaired speech in about a month, he says.
?If I retired and didn?t have such challenging work, I think I?d be dead,? he says. ?I think it (creates) more plasticity in my brain.?
Now, there?s hope that treatment for the disease is closer than ever. This year, for the first time, there will be clinical trials of drugs for Huntington?s disease in the U.S., says Ray Truant, a professor of biochemistry and biomedical sciences at McMaster University.
Some of the most promising research has come from the University of Alberta lab of Simonetta Sipione, who said in a 2012 study that she had halted the disease in mice. ?It?s the most striking thing anyone has ever seen,? says Truant, who worked with Sipione on the study. ?Not only did the treatment stop the disease, but it reverted the mouse to normal.?
Sipione injected mice with a brain molecule, GM1, which healthy people have in small amounts but is almost non-existent in people with Huntington?s. The mice had normal motor function for two weeks after the treatment but reverted without the medication. ?They are very promising in mouse models, but mice are not people.? Truant cautions. ?There?s a big difference.? Trials may begin on humans in 2014.
Roder?s and Truant?s work has intersected. Roder was chair of Truant?s PhD defence at the University of Toronto. ?Twelve years later, I had a workshop on Huntington ?s disease and was absolutely shocked to see he was the invited patient.?
Roder?s work was well-known to him. ?His mouse model has been one of the most valuable tools for understanding this disease.?
In his lectures to lay people, Truant stresses the importance of research into Huntington?s disease, because it can also be applied to more common disorders such as Alzheimer?s. which affects about a half million Canadians. The incidence is expected to soar as baby boomers age.
It?s for these reasons ? the need for research, increased awareness and policy changes ? that Roder and his family have been so open about their experiences with Huntington?s disease.
Roder still sees at least a few years of research ahead of him. He?d like to work until 65, his wife says. ?Even longer,? he protests.
