Dr. Ziv Gan-Or at The Neuro is using Open Science methods to identify genes strongly linked to Parkinson鈥檚 disease (PD), an important step in understanding the genetics of this debilitating condition.
鈥淔or any genetic study you need to have a population as large as possible,鈥� says Dr. Gan-Or. 鈥淎nd you need to collaborate for that. One centre cannot recruit the amount of patients we need for these types of studies.鈥�
The answer was Open Science, a principle for sharing data and samples across multiple labs and institutions. In the case of , published in the journal Brain on Dec. 22, 2020, the data came from The Neuro of McGill University in Canada, Columbia University in the United States and Sheba Medical Center in Israel. The Neuro data was provided in part by the Quebec Parkinson Network (QPN), a collection of patient data and samples from across the province. In all, 2,657 PD patients and a control group of 3,647 healthy people contributed to the study.
Using the data, the research team fully sequenced 32 genes on parts of the human genome that previous studies had shown might play a role in PD. The scientists used statistical analysis to find variants in the genes that are more or less common in PD patients than the healthy controls.
The analysis found a set of rare variants in genes SYT11 and FGF20 that strongly suggests they play a role in PD. They found less significant associations in three other genes: PM20D1, BST1 and GPNMB.
SYT11 in particular is interesting in PD because it plays a role in functioning of dopaminergic neurons, though its exact functioning is still not clear. These cells are damaged in PD patients, causing loss of movement control.
Dr. Gan-Or says the next steps are to have other studies replicate the results. All supplementary data is available so scientists can perform their own analysis, and they can request for access the full row of genetic data through The Neuro鈥檚 C-BIG Repository, which was also the source of all the data from the QPN.
In the meantime, Dr. Gan-Or will work with The Neuro鈥檚 Early Drug Discovery Unit to test the role the genes play in human brain cells. By knocking out these genes in dopaminergic neurons grown from stem cells, the scientists will learn their function and identify possible targets for drug therapies.
鈥淓very time we discover a new gene involved in Parkinson鈥檚 disease, it can become a target for drug development. With Open Science, we can make these discoveries faster, allow for faster replication studies, and remove different barriers that would otherwise slow down this process.鈥�
