Parkinson Canada is proudly sponsoring and attending the first ever GBA1 meeting, a conference for health professionals and stakeholders in the field focused on GBA1 research. Mutation in the GBA1 gene is the most common genetic abnormality associated with Parkinson’s, and further examining this link is vital to understanding Parkinson’s and related neurodegenerative diseases.

Topics of discussion will cover various facets of GBA1 research, spanning from basic science to clinical trials. This gathering will serve as a unique platform to accelerate our knowledge and treatment options that target this gene.

Parkinson Canada will be posting summaries of the panels and discussions which you can find below.

Day one update

The first day of the inaugural GBA1 scientific meeting hosted by Dr. Ziv Gan-Or at The Neuro (Montreal Neurological Institute-Hospital) in Montreal has come and gone and it has been a busy program filled with lots of innovative, forward-thinking presentations about the role of GBA1 mutations in Parkinson’s disease.

We know that mutations in the GBA1 gene, which encodes the protein called glucocerebrosidase, is the most common genetic abnormality associated with Parkinson’s, and Day 1 of the meeting has shed light on the pathways and mechanisms through which different GBA1 mutations are resulting in neurodegeneration.

We heard that, with emerging technologies and methods to study GBA1 there is an increasing need for harmonization amongst research groups to compare studies. We also heard that we need to better understand the relationship between the brain, the immune system and the gut, to know where and when the neurodegenerative process starts and how aging, genetics and environment contribute to the perfect storm in Parkinson’s. We learned about various biological mechanisms in detail, an important step in identifying targets for GBA1-targeted therapies. And most interestingly, we learned about the differences between female vs male GBA1 carriers, and how sex and ancestry impact the way people will present with disease and should be taken into account when studying the mechanisms of disease, performing clinical trials, and using therapeutics.

We are proud to be a sponsor for this important gathering of scientists, clinicians, industry and patient organizations from around the world to discuss an important, understudied topic.

Day two update

Day two of the GBA1 scientific meeting at The Neuro focused on the variability in GBA1-PD in terms of the frequency of certain gene variants across different populations and using a classification system to differentiate between mild and severe variants that lead to different clinical outcomes.

We heard about the importance of sequencing larger populations, particularly understudied non-European communities, to have a more complete picture of the complex role GBA1 in Parkinson’s. This was demonstrated by the recent identification of the rs3115534 variant which was present in 50% of Parkinson’s cases in Nigeria and confers a high risk for developing Parkinson’s in individuals who have the genetic variant. We learned about the clinical characteristics of people with GBA1-associated neurodegeneration, including autonomic dysfunction, REM sleep behaviour disorder (RBD), cognitive decline, hallucinations, and more rapid disease progression. We learned that  certain risk variants of GBA1 are more associated with Parkinson’s with dementia vs Lewy Body Dementia and that understanding differences by sex, genetic variant, and how those individuals progress are important in terms of clinical trials and disease management.

Interestingly we heard that testing disease-modifying therapies in a GBA1 population may be a promising strategy as they experience dementia earlier on and these changes in cognition could be a measurable endpoint with a more sensitive cognitive test. Canadian Parkinson’s leaders Dr. Lorraine Kalia and Dr. Ron Postuma highlighted how mutations in GBA1 can impact disease in individuals with RBD and the differences observed in neuropathology. Dr. Kalia also highlighted a novel technique of opening the blood-brain barrier to deliver GBA1 targeted therapy using focused ultrasound, which is being developed in Toronto.

The day ended with an insightful discussion on the importance of collaboration to move the GBA1 field forward, including a Canadian-led initiative called G‑CAN which is focused on developing new preclinical models and tests to measure glucocerebrosidase activity and develop and test new disease-modifying therapies targeting GBA1-PD.