Pablo Perez-Pinera earns Impact Award from Parkinson's Foundation

There is still no cure for Parkinson’s disease. But Pablo Perez-Pinera, an assistant professor of Bioengineering at the University of Illinois at Urbana-Champaign, is being recognized for leading new research aimed at changing that.

In September, the Parkinson’s Foundation honored Perez-Pinera with one of two 2019 Impact Awards to help support his research, which endeavors to “disrupt” one of the genes believed to be responsible for the disease. The award recognizes cutting-edge research projects that test new therapeutic treatments or advance the known physiology of Parkinson’s disease. For more than 60 years, the Parkinson’s Foundation has been investing in research to improve care and find a cure. The Parkinson’s Foundation estimates that 50,000 to 60,000 new Parkinson’s cases are diagnosed each year in the United States alone. Approximately 1 million people live with the disease in the United States and an estimated 7 to 10 million people worldwide.

Years ago, scientists discovered that many forms of this complex disease arise when genetic mutations cause a protein called a-synuclein (a-syn) to accumulate in the brain. A-syn aggregates can be toxic for certain types of neurons, which decrease dopamine levels in the substantia nigra. Because dopamine is a naturally occurring chemical in the brain, responsible for controlling muscle movement, mood and memory, Parkinson’s disease progresses as dopamine levels decrease, causing patients to experience tremors, impaired balance, muscle weakness and rigidity, difficulty swallowing, insomnia, fatigue, dementia and, ultimately, death.

Perez-Pinera, in collaboration with Thomas Gaj, also an assistant professor of Bioengineering at Illinois, are developing innovative gene-editing tools to introduce precise mutations in genomic DNA to modify the genes that cause decreased dopamine levels and lead to Parkinson’s disease. The work is based on the “clustered regular interspaced short palindromic repeats” molecules known as CRISPR, a revolutionary technology discovered in 2012 that provides a faster and significantly more accurate way of correcting genetic code. The researchers will use base editors, a CRISPR variant that modifies genes without cutting the DNA strands, thereby avoiding unintended and unpredictable mutations.

In preliminary results, Perez-Pinera and his team have not only demonstrated that the innovative tools they created can efficiently modify the targeted genes in vitro, but the researchers also have developed a method to safely deliver the genetic tools in vivo. The team is poised to test the new therapy in animal models of Parkinson’s disease.

Perez-Pinera plans to provide pre-clinical data in the near future on the efficacy and safety of this technology and, unlike available treatments to date, he believes that this novel therapy is capable of providing a long-lasting curative effect to a disease that continues to devastate many millions of lives. If this approach is successful, he says, it can lead to new treatments and outcomes for those afflicted with Parkinson’s disease.