Parkinson’s Foundation wins nearly $800K for research, genetic testing

Focus of grant is helping the estimated 18,000 patients in Arizona

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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The Parkinson’s Foundation was awarded nearly $800,000 to support research efforts that aim to improve the lives of the estimated 18,000 people living with Parkinson’s disease in Arizona.

The focus of the new grant, from the Pat Simone Charitable Foundation, located in Arizona, is to improve genetic testing, the Parkinson’s Foundation said in a press release

“We know that genetic testing is a critical tool for understanding the puzzle of Parkinson’s disease,” said Mark Grayson, president of the Pat Simone Charitable Foundation. “We are thrilled to support the Parkinson’s Foundation and hope that many people with Parkinson’s will benefit from this research.”

The grant monies are expected to support ongoing Parkinson’s research at the Barrow Neurological Institute in Phoenix. The institute houses the Muhammad Ali Parkinson Center, a Parkinson’s Foundation Center of Excellence.

The award also will bolster efforts to increase local participation in PD GENEration: Mapping the Future of Parkinson’s Disease — the Parkinson Foundation’s national initiative to provide no-cost genetic testing for patients at participating Centers of Excellence or at home.

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“We are pleased to receive this significant grant from the Pat Simone Charitable Foundation, Inc. to fund promising research and to expand our genetics study to better serve the Arizona Parkinson’s community,”  said John L. Lehr, president and CEO of the Parkinson’s Foundation. “This investment will further strengthen our long-standing collaboration and shared goals with the Barrow Neurological Institute.”

Specifically, the award will support the research of Fredric Manfredsson, PhD, an associate professor in Barrow’s translational neuroscience department, and his colleague Kimberly Meyers, PhD, a postdoctoral fellow.

The research team is investigating whether increasing the activity of an enzyme called aminocarboxymuconate-semialdehyde-decarboxylase, or ACMSD, might reduce brain inflammation and protect against nerve cell death in Parkinson’s.

Genetic mutations in the gene encoding ACMSD have been associated with the disorder, and higher levels of the enzyme are generally believed to be neuroprotective.

“In pilot preclinical studies, we have had remarkably encouraging results using ACMSD therapy,” Manfredsson said, adding that “targeting this pathway holds tremendous explanatory power if one looks at clinical data.”

Manfredsson said the grant will be crucial to advancing this research.

“Without these funds it would not be possible to expand our experimentation and fully investigate the therapeutic potential of ACMSD in Parkinson’s disease,” he said.

The work also has been funded by a Parkinson’s Foundation postdoctoral fellowship awarded to Meyers.

We know that genetic testing is a critical tool for understanding the puzzle of Parkinson’s disease.

The PD GENEration study (NCT04057794) is open to Parkinson’s patients in all 50 U.S. states, Puerto Rico, and the Dominican Republic, as well as in Canada; the estimated enrollment is 15,000 people. It aims to combat the high costs associated with Parkinson’s genetic tests, which can pose a barrier for patients.

To that end, it offers no-cost genetic testing for people who have been diagnosed with the neurodegenerative disease. Through a simple cheek swab, a person’s DNA will be screened for mutations in seven different genes that have been linked to the neurodegenerative disease. These are GBA, LRRK2, PRKN, SNCA, PINK1, PARK7, and VPS35.

Once the testing is complete, participants receive genetic counseling in English or Spanish about what the results mean for them and their families.

Findings from the tests also are confidentially included in a database to help Parkinson’s research. The data serve many purposes, such as helping scientists understand why disease progression and severity look different in different people. It also may facilitate enrollment in clinical trials and the development of targeted treatments.

Testing can occur in person at select Centers of Excellence in the U.S., or from home through a telemedicine appointment and a sample collection kit.

Early this year, the study had provided genetic testing and counseling to 7,500 patients — halfway to its target — and 14% of participants had a genetic link to Parkinson’s.

Industry partners for the program include Biogen, Prevail Therapeutics, and Sanofi Genzyme. The recent funding will help the foundation expand participation within Arizona. In addition to the Barrow Neurological Institute, PD GENEration’s sites in the state include the MD First Research – Chandler.