The Jackson Laboratory was awarded grants of more than $6 million to develop a toolkit to help scientists study Parkinson's, a disease of the nervous system that worsens over time.
Justin McDonough, associate director of cellular engineering at Jackson Labs in Farmington, said scientists working on the project are focusing on some 20 genes to study why neurons in Parkinson’s patients don't behave the way they should. Their top target is GBA1, a gene that makes an enzyme that breaks down waste buildup in the brain.
“When an individual has specific changes or variations in GBA1, [the] waste management system essentially is dysfunctional, and this leads to the death of the neuron eventually,” McDonough said.
“What we're doing is we're using a gene editing technique to replicate the mutation or the variant that we see in diseased individuals," he said. "We’re trying to replicate that in the healthy cell."
To understand what's going on, Jackson Labs will create a standardized collection of stem cells that other labs around the world can study. The hope is that the data coming out of all the labs will align, taking the field closer to therapeutics.
The work is funded by The Michael J. Fox Foundation for Parkinson’s Research and the Aligning Science Across Parkinson's Collaborative Research Network.
More than 1 million people in the U.S. live with the disease, which currently has no cure.
According to the Parkinson’s Foundation, the disease is diagnosed when protein begins to clump in vulnerable neurons in the brain. The clumping ultimately affects dopamine, a neurotransmitter that gets progressively lost in Parkinson’s disease.
“As of now, we don’t have any definitive ways of stopping, slowing or reversing the underlying loss of dopamine-producing brain cells,” said Dr. Vasanth Kainkaryam, a primary care physician in South Windsor.
He said symptoms are managed with dopamine-based medications and deep brain stimulation.
“Parkinson’s has so many ways it affects people’s lives — from motor issues, to swallowing issues, to cognition, and it is very exciting to see new research,” he said.
Diversity of cell lines
Data has previously shown racial disparities in Parkinson's diagnosis, though scientists are still studying why. One study among Medicaid enrollees in Pennsylvania found that African-Americans were diagnosed with Parkinson’s at half the rate of whites, even when controlling for age, sex, location of care, healthcare use and reason for Medicaid eligibility.
Another study of Parkinson’s based on 36 million Medicare recipients in the U.S. found that the disease is twice as likely to be diagnosed among white people and Hispanics as Blacks and Asians. Researchers also found geographical differences — the disease is more common in the Midwest and the Northeast.
Other studies found that Hispanic people with Parkinson’s don't receive the same level of care as white non-Hispanic patients, such as ongoing medication adjustment with progression of symptoms, while at the same time being inadequately represented in clinical research.
McDonough said Jackson Labs is committed to clinical diversity and in the next phase of its research, will diversify its cell lines.
“We don't want to always use the same model that has basically one genetic background,” McDonough said. “We've now built a panel of stem cell lines that are derived from different individuals. We've made efforts to get these cell lines from different population groups, so that we have sort of a broad spectrum of lines that we can apply for different studies.”
