International team work to study genetic forms of Parkinson’s disease

International team work to study genetic forms of Parkinson’s disease

In a scientific article published in 2019, a group of researchers present how an international collaboration involving many scientists can help to gather vast amount of data on a disease. While one researcher can lack clinical information on symptoms associated with specific forms of the disease, developing a global-scale collaborative database should help fill these knowledge gaps. In this case, the authors focused on monogenic forms of Parkinson’s – caused by a mutation on a single gene – and, in a few weeks, made an inventory of the data available worldwide for over 8000 cases, demonstrating the potential of this approach.

Capitalising on genetic sequencing and clinical data worldwide

The development of new technologies allowing fast and cost-effective genetic sequencing allows the identification of more and more patients with hereditary neurological diseases. For Parkinson’s disease (PD), in 2018, it was estimated that up to 300,000 patients worldwide have hereditary forms, representing 5% of all PD patients. Several genes have already been linked to the disease and it is known that mutations in some of them (SNCA, LRRK2, VPS35, Parkin, PINK1, and DJ1) can cause monogenic forms of PD.

Genetic sequencing and identification of the exact mutation can be very useful for diagnosis, genetic counselling, and potentially gene targeted therapies in the coming years. However, it is still a challenge to really understand which symptoms are associated with a specific mutation and which treatment would be beneficial for each monogenic form of PD.

Clinicians and researchers need more detailed clinical information about as many PD patients as possible to study the genetic forms of the disease and to offer tailored counselling and treatment. It is therefore crucial to systematically characterise patients with genetic neurologic conditions and to compile and share this information in large datasets.

Large multi-centre approach to inventory available information

Building on the growing interest for large-scale, team-based research initiatives, a group of researchers performed a worldwide survey of genetic PD. They contacted scientists from all over the world and developed an online questionnaire to enquire about the data available for genetic PD patients. Their goal was to estimate the amount of existing information, especially for demographics as well as clinical, omics and imaging data. In five weeks, 103 researchers from centres in 43 countries contributed to the survey and listed their resources for almost 8500 patients from diverse ethnic backgrounds with mutations in Parkinson’s genes.

The inventory created through this initiative highlighted that, while not always reflected in the published scientific literature, there is in fact a lot of information available – on nonmotor signs observed in many cases for example. Such a worldwide collaborative approach is thus an effective way to list and share the existing knowledge. Building these exhaustive large datasets will be crucial to better understand the links between genetic mutations and clinical manifestations. If applied to early onset PD patients with a family history, it could also help to uncover rare novel mutations. Last but not least, it will be useful when selecting patients for clinical studies and trials.

Generally speaking, this article underlines that global-scale team science and collaboration across different disciplines is needed to address complex and multifaceted problems such as neurological diseases. It is important to leverage the expertise and data available across the globe in order to accelerate biomedical research and improve patient care.

Vollstedt, E. J., Kasten, M., Klein, C., & MJFF Global Genetic Parkinson's Disease Study Group (2019). Using global team science to identify genetic parkinson's disease worldwide. Annals of neurology, 86(2), 153–157.

Photo: Designed by pikisuperstar / Freepik