Identification of Rare Variants in PD through Whole Exome Sequencing

The focus of this study is to identify a new level of genetic variation, i.e. rare genetic variants with a population frequency less than 5%, usually less than 1%, which are believed to provide a stronger risk per variant than those studied to date in the large genome wide association studies (GWAS). To do this we are generating whole exome sequencing data on the Illumina HiSeq. Each HiSeq produces at least 600 billion base pairs of DNA sequence in one run. Whole exome sequencing sequence data, about 50 million base pairs, or about 1.5% of the total DNA of each person's genome, is generated. We are using this data to look for new DNA variations that give risk for Parkinson disease, as well as "modifiers", that may lead to having more severe or milder disease or later or earlier ages of onset.]]>
Cases: Inclusion: - Diagnosis of parkinsonism; Ages 18-65, 65+; consent to biological samples and information to be utilized for either any future uses or only future uses related to Parkinson disease research. Exclusion: - Adults unable to consent who do not have a legal representative or immediate next of kin who can consent on their behalf; Individuals who are not yet adults (infants, children, teenagers); do not give consent for biological samples and information to be utilized for any future uses. Controls: Inclusion: - relatives of individuals with parkinsonism; unrelated healthy controls; Ages 18-65, 65+; consent to biological samples and information to be utilized for either any future uses or only future uses related to Parkinson disease research. Exclusion: - Respective relatives and unrelated controls must not have a diagnosis of Parkinsonism; Adults unable to consent who do not have a legal representative or immediate next of kin who can consent on their behalf; Individuals who are not yet adults (infants, children, teenagers); do not give consent for biological samples and information to be utilized for any future uses. ]]>