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There is an increasing body of genetic and biochemical evidence that points toward lysosomal dysfunction as a risk factor for developing age-related neurodegenerative disorders, including Parkinson’s disease (PD).

The highest genetic risk factor for developing PD is loss-of-function mutations in the GBA gene, which encodes the lysosomal hydrolase acid beta-glucocerebrosidase, the enzyme deficient in the lysosomal storage disorder, Gaucher Disease. The exact mechanism(s) leading to increased risk of PD in Gaucher patients and GBA1 mutation carriers is unclear; however a generally well accepted concept in the PD community is that a critical relationship exists between endosomal-lysosomal dysfunction, an imbalance in glycosphingolipids (GSL), and the development of PD.

Developing therapies for the treatment of rare lysosomal storage disorders (LSD) and neurologic diseases is currently aligned with the overall strategic mission of the Rare Disease Research Unit (RDRU) at Pfizer.

Working with the Medical Sciences Business Partnerships team, Professor Fran Platt was able to secure funding for two years in the first instance to better understand endosomal-lysosomal dysfunction and the role of GSL in PD, potentially leading to identification of novel therapeutic targets for the treatment of this devastating disease.

Fran commented, "We are delighted to have this opportunity to work in partnership with Pfizer on the validation of a potential new therapeutic target for PD that we recently identified”.

Work on this project started in July, with the return of Fran’s lab to the Department of Pharmacology.