When one rare disease is found to be in some way similar to another rare disease, research can often be accelerated for both. For instance, recent discovery by a professor at Temple University has brought hope to both Gaucher Disease and Parkinson’s disease (PD) patients.
Marlene Jacobson
Marlene Jacobson is a molecular pharmacologist and professor of pharmacodynamics. She is the Associate Director of the Moulder Center for Drug Discovery Research at Temple and has dedicated much of her life to Gaucher disease Type 2 research. While she’s only been at Temple for 6 years, she has 24 years of previous experience conducting research at Merck Research Laboratories.
Dr. Jacobson has just been awarded a grant to examine how one of her latest discoveries in Gaucher disease could also potentially benefit PD patients.
The Grant
The grant has been provided by the Silverstein Foundation for Parkinson’s with GBA, an organization which focuses on the prevention of the GBA form of PD. The Michael J. Fox Foundation also contributed to the grant, an organization dedicated to funding novel PD research.
The Link Between Gaucher and PD
Dr. Jacobson has been examining compounds which are able to reverse Gaucher disease Type 2. This is the most severe form of the disease, and it currently has no effective treatments. Likewise, Parkinson’s disease patients have limited treatment options, with most of the current therapies addressing symptoms as opposed to the disease itself. But how could therapies for these two conditions be potentially linked?
Gaucher disease is caused by mutations within the GBA1 gene. These mutations make the body unable to produce an adequate amount of the GCase protein. GCase is responsible for removing debris from cells. With an inadequate amount of GCase, debris become toxic, harming brain cells.
10% of all Parkinson’s disease patients carry the same exact GBA1 mutation, which means they face the same issues regarding GCase. These individuals develop Parkinson’s when they are younger and tend to have worse cognition symptoms than patients with other mutations.
This commonality between Gaucher and PD means that they both may benefit from the same therapeutic approach. Specifically, the molecule Dr. Jacobson is examining for Gaucher, could benefit PD.
Looking Forward
Dr. Jacobson will use the grant money to expand her research to utilize both Gaucher cells and PD cells from patients who have the specific GBA1 mutation.
“We’re very fortunate to have access to these patient cells, and we treat them with respect as they provide an advantage in demonstrating a compound’s potential to reverse a disease state.”
This research is extremely exciting for the Parkinson’s disease community and the Gaucher disease community. Stay tuned to hear updates on Dr. Jacobson’s progress!
You can read more about her research and this new grant here.
