Decoding a sleep disorder and Parkinson’s
Sequencing the entire genome of REM sleep behavior and progression to neurodegenerative diseases
People who have a sleep disorder that causes them to act out their dreams are also at risk of developing Parkinson’s and two other progressive brain disorders.
But researchers still don’t know what links REM sleep behaviour disorder (RBD) to Parkinson’s, Lewy Body Dementia, and Multiple System Atrophy.
At McGill University, Prabhjyot Saini, a PhD candidate in human genetics, is analyzing the genetic makeup of people with the sleep disorder.
By sequencing the genome of people with RBD, he hopes to isolate rare genetic patterns that are common to the entire group. He also wants to understand how the genes interact with proteins or environmental triggers, to determine why RBD is so closely connected to neurodegenerative conditions.
“What is it that people have that makes them convert, and how does the body choose which disease to convert to? That’s why we want to look at genetics,” Saini says.
Learning that you have RBD can be traumatic, says Saini.
“It doesn’t end there either,” he says. “Once you go to a neurologist, you find out the likelihood of developing one of these other neurodegenerative diseases is 80 per cent.”
Saini wants to give people facing this diagnosis more answers. He also hopes his work will identify a target for new drugs or therapies to modify the genes he identifies and/or the proteins they express.
If Saini’s research identifies genes that a drug or therapy could turn on or off, that intervention could prevent or delay the symptoms of Parkinson’s, Lewy Body Dementia or Multiple System Atrophy.
The brain has long captivated Saini.
“It was always fascinating to me that we all have a brain that from the outside looks the same, but it’s everything inside that makes us individuals,” he says.
He believes the best way to study the brain is during sleep, when it functions with no assistance from conscious thought.
Studying neurodegenerative diseases was a natural evolution of using sleep as an environment in which to study the brain, he says.
He hopes sequencing the genes of people with RBD is the first step to changing their outcomes.
How your support made this research project possible
The grant will help finance Saini's research as part of his PhD dissertation, and will be a major boost to his career, he says.
"I need to start putting a stake in this field, and this is definitely something that would catch attention and people would notice the work, the quality of the work," he says.
If his project succeeds in isolating the genetic factors that put people at risk of RBD, it would be a significant discovery, Saini says.
"It's huge to receive the award and produce the kind of results we are expecting from the award."
He encourages people to donate to Parkinson Canada as a way to acknowledge that we all benefit from others' donations of time, expertise, and money.
"When you go to your doctor or to the hospital, the care you get is due to the contributions that came from others that came before you, whether it's from people giving a financial donation or participating in studies, donating tissue or brains," he says.
"We all have an obligation to contribute to the entity."
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