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Whole Exome Sequencing in an Amish Parkinson's Disease Pedigree

Although there is strong evidence to suggest genetics plays a role in Parkinson’s disease, the majority of the genes involved in Parkinson’s disease remain unidentified. We propose to identify these additional genes by examining Amish individuals with Parkinson’s disease who share common ancestors. The common ancestry makes it much more likely that we can identify relatively rare but important genetic variation.

Project Description: 
This project will take advantage of new DNA sequencing technology that allows us to examine the critical parts of virtually every human gene in each individual. This is a very powerful approach and will identify several thousand potentially important variations in each person. To find the specific variations important for Parkinson’s disease, we will compare the variations among the Amish people with Parkinson’s disease to the Amish people without Parkinson’s disease. We will further use our knowledge of the Amish genealogy to help determine which variations were inherited from common ancestors. These variations will be the highest priority for further studies.

Relevance to Diagnosis/Treatment of Parkinson’s Disease:  
Finding DNA variations related to Parkinson’s disease has several very important applications. First, if enough of these are found, they might be used to help screen individuals and identify those who may be at risk of developing Parkinson’s disease. These individuals might then be given potential treatments before symptoms arise. Second, these variations, and the genes that hold them, may serve as new targets for drug treatments or further studies into developing newer and more effective treatments.

Anticipated Outcome: 
Our goal is to identify additional genetic variation related to Parkinson’s disease. We will identify and catalog rare variation across the genome that occur in the Amish and are over- or under-represented in individuals with Parkinson’s disease.

Final Outcome

We have accomplished two substantial efforts in this project. First, we completed a full reanalysis of our genetic linkage and association data in our Amish pedigree that looks at over 600,000 different common variations across the genome. These data point to several different regions of the human genome that may harbor novel Parkinson disease genes. Second, we have performed a detailed DNA sequencing effort on many of the people in the pedigree to identify the specific variations that may be responsible for their disease. Combining these two types of data will increase our chances of identifying new gene variations for Parkinson disease.


  • Jonathan L. Haines, PhD

    Nashville, TN United States

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