Parkinson’s and genetics: UBC ‘gene-hunter’ aims to solve medical mystery
It’s often associated with symptoms like tremors and high-profile patients like actor Michael J. Fox and legendary boxer Muhammad Ali, but few people seem to know much about Parkinson’s disease.
That’s why radio program director, Larry Gifford, has been trying to raise awareness about the illness after he was diagnosed with it last summer.
The right side of Gifford’s body doesn’t work like it used to. A tremor in his hand and a right-foot drag are among the symptoms of his young onset Parkinson’s.
Like many others, he knew very little about the disease when he was diagnosed. In fact, he initially thought it was going to kill him.
“I think the one thing that surprised me is it isn’t a deadly disease,” Gifford said.
He now knows that Parkinson’s isn’t a terminal illness, rather it is progressive and symptoms that may be mild at first, will gradually become more intense and debilitating.
It is the second most common neuro-degenerative disorder after Alzheimer’s.
WATCH: Larry Gifford walks us through his symptoms in detail, how they’re affecting his life and what his goal is now that he’s been forced to learn how to live with Parkinson’s.
Certain populations of dopamine-producing nerve cells in the brain slowly start dying away, experts say, leading to symptoms that vary from tremors and slowness to balance issues and soft or slurred speech.
What causes the illness and how to prevent it isn’t well understood.
A research project at the University of British Columbia (UBC) is aimed at finding answers and Gifford is taking part in the study with Dr. Matt Farrer, a professor of medical genetics.
Farrer has been mapping the genomes of hundreds of patients from around the world, including Gifford’s, in an effort to solve the medical mystery.
“Understanding movement and how it’s controlled is one of the most complex cognitive tasks that we’ll do,” Gifford said in an interview with Global News.
WATCH: UBC Professor Dr. Matt Farrer walks Global News through his lab to show how some of his research aimed at predicting and preventing Parkinson’s disease.
Seventeen years ago, it took $3 billion and 10 years to sequence the first genome, Farrer said. Today, researchers can sequence a patient’s entire genome in a couple of days.
“Understanding genetic information is going to revolutionize medicine in its entirety, completely turn it on its head,” he said.
“We are going to have knowledge about specific causes for disease, molecular causes for disease. It’s not just trial and error anymore,” he added.
The goal, Farrer said, is to be able to directly compare the DNA of Parkinson’s patients with the DNA of healthy people, to try and identify genetic differences.
A patient’s data is then anonymously entered into a database to allow experts around the world to analyze it and share findings.
“It’s only with hundreds of thousands of patients taking part that we’ll really understand the disease,” Farrer said.
Farrer said his team has already made game-changing discoveries, like the role of a gene called LRRK2.
“It’s the largest genetic contribution to Parkinson’s disease in the world,” Farrer said, adding, “hundreds and hundreds of thousands of patients have variability in LRRK2.”
WATCH: CKNW radio director Larry Gifford turns to podcasting to fight Parkinson’s.
His team recently announced its latest breakthrough, which is understanding how the LRRK2 gene works with other genes.
“It’s one thing finding a gene, it’s another knowing what the protein it encodes does,” Farrer said.
The scientists developed models of mutations that could lead to Parkinson’s and found there’s a major problem with dopamine reuptake and dopamine release in forms of the disease, according to Farrer.
“It links together several forms of Parkinson’s disease,” he said.
“So it’s a huge clue, a huge tool that can be used to further develop pharmaceutical therapies for different genetic forms of Parkinsonism. Each new gene discovery provides a new clue and a potential target for treatment.”
Current medications for Parkinson’s provide symptomatic benefits, but don’t last, and there are no preventative medications for Parkinson’s, according to Farrer.
His goal to find a way to use genetics to diagnose the disease in order to help predict it and, eventually, prevent it all together.
“My hope is that my work is going to help eradicate Parkinson’s disease in the same way as vaccines did for polio,” Farrer said.
Gifford is pulling the curtain on all aspects of his life, telling the world how his symptoms have been progressing and how his disease is impacting his world, through his new podcast called “When Life Gives You Parkinson’s.”
“To ultimately find cures, people with Parkinson’s are going to have to start telling their story,” Gifford said.
© 2018 Global News, a division of Corus Entertainment Inc.