My PD Story

2025 Trailblazer Award

Scanning Family Trees for Hidden Parkinson’s Risk Factors

It is widely understood that Parkinson’s disease (PD) is caused by a combination of environmental and genetic risk factors, with unique combinations of these factors for each person. Parkinson’s Foundation research has found that approximately 13% of people with Parkinson’s disease have a genetic link to the disease through one of the seven most common disease-related variants.

The genetic testing from this research has helped connect those people to therapies and research studies directly related to their PD genetic background. However, the large amount of people with PD that do not have those genetic variants implies that there could be more rare disease-associated variants to be discovered.

Paolo Moretti, MD, recipient of a Parkinson’s Foundation Trailblazer Award, is analyzing the genetic family histories of thousands of people with PD to find these previously hidden disease-associated genetic risk factors. By leveraging the power of a unique, rare set of generational genetic data, he hopes to identify new variants to screen for and use to better determine PD risk in families.

“The most important outcome of our studies will be the identification of PD risk variants that are, at least in part, different from those that have been discovered to date.” - Dr. Moretti

Based at the University of Utah in Salt Lake City, a Parkinson’s Foundation Center of Excellence, Dr. Moretti will utilize the vast genealogical and genetic data within the Utah Population Data Base and University of Utah Health Science Center electronic data warehouse. This resource includes highly detailed, multigenerational medical records and DNA samples from families that often date back to the mid 1800s. Using statistical analysis tools, Dr. Moretti and his team will screen for extended families with above-average incidence of PD without common genetic risk factors.

These analyses could uncover more subtle genetic risk factors for PD that could only be spotted by looking at well-documented family tree genetics. Dr. Moretti will then validate these new potential genetic risk factors by scanning for them among larger PD databases, seeing if they are indeed associated with higher risk of disease. Altogether, this research hopes to yield new genetic insights into PD that are crucial to our overall understanding of the disease.

“Receiving the Trailblazer Award is the culmination of an effort that my collaborators and I began a few years ago,” said Dr. Moretti. “With this award, we are hoping to further our understanding of the genetic architecture of PD and to collaborate with other investigators in the field to facilitate genetic and pathogenesis studies in PD.”

Meet more Parkinson’s researchers! Explore our My PD Stories featuring PD researchers.