Case Studies of Rare Gene Variants Linked to Parkinson’s Disease

Parkinson disease (PD) is s the second most common movement disorder, occurring in 1-3% of the population. It is a complex condition with varied symptomatology, age of onset, and rate of progression. Much has been learned about PD in the last several decades including increased understanding of what can cause PD to develop. Previously, it was though that there was little or no genetic contribution to PD development, but research has revealed that most cases involved a combination of factors, including environment, genetics, age, and lifestyle. 

 

Studies have identified variants in several genes that increase the likelihood that an individual will develop PD. This understanding has led to more clinical trials testing new therapeutic approaches with genetic targets. More than ever, individuals are accessing genetic testing and learning their genetic status through research participation, clinical testing coordinated by their physician, or direct to consumer testing. From the prevalence of genetic testing, a growing portion of individuals have been identified as carrying rare PD variants. These rare variant carriers are not typically viewed as good candidates for clinical trials, however, they can be of great value in understanding the genetic contributions to PD. 

 

 

Our team is seeking to identify individuals who carry rare PD variants and ask them to allow their genetic and health information to be used as part of a case study. It is possible that multiple individuals may be identified with the same rare PD variant and included in the same case study.