Parkinson's Institute, Population Diagnostics discover new genes relevant to Parkinson's disease

Collaborative Effort to Further Validate Genetic Variants

The Parkinson's Institute and Clinical Center announced today that they, in partnership with Population Diagnostics, Inc., have discovered a number of new genes relevant to the cause of Parkinson's disease.

The innovative approach used for this study focuses first on genome-wide investigation of gene copy number variants (CNVs) followed by targeted sequencing of CNV-identified candidate genes. This strategy dramatically reduces the genome search space as compared to more traditional gene discovery tools such as single nucleotide polymorphism (SNP) analysis or exome sequencing methods. The study revealed a number of candidate genes with compelling new biological links to Parkinson's disease as well as links to previously discovered Parkinson's genes such as alpha-synuclein and LRRK2 (the most common known cause of familial or inherited Parkinson's disease). 

The genetic variants were originally discovered in a clinical center-based study of 468 patients from the Parkinson's Institute that included familial and sporadic cases. The genome-wide study was performed by Population Diagnostics, Inc., a privately held company with a cutting-edge approach to systematically uncovering the genetic causes of disease. Seed funding for the validation of one novel gene found in the study was provided by The Michael J. Fox Foundation for Parkinson's Research. The Parkinson's Institute and Population Diagnostics established their collaboration focused on genetic discoveries in December 2011.

Once confirmed in a second cohort of patients from the Parkinson's Institute, many of these new variants are expected to confer clinical utility and enable earlier disease detection that will allow separation of people living with Parkinson's disease into additional genetic subtypes. Currently known genetic subtypes, such as SNCA, LRRK2, and PARK2, can classify and diagnose only five to ten percent of patients with Parkinson's disease; however, the genetic discoveries from this collaboration are anticipated to dramatically boost the diagnostic yield of genetic testing in Parkinson's patients. The novel variants in genes associated with Parkinson's may help predict disease course and may also accelerate the development of disease-modifying drugs by serving as new therapeutic targets and illuminating new disease pathways.

"We are very excited that our collaboration with Population Diagnostics has revealed a number of new genetic variants that are relevant to the cause of Parkinson's disease," said Dr. Birgitt Schuele, Program Director of Gene Discovery and Stem Cell Modeling at the Parkinson's Institute. "We are grateful to The Michael J. Fox Foundation, Population Diagnostics, and our Parkinson's Institute donors for funding that enables us to do the requisite validation experiments which are critical for a better understanding of this disease.  The Institute is uniquely positioned for collaborations with industry partners, like Population Diagnostics, that fast-track our understanding of disease mechanisms, the development of new and better treatments, and hopefully one day a cure."

"I'm confident that continued collaboration between the Parkinson's Institute and Population Diagnostics will positively impact the lives of patients with Parkinson's disease through the eventual use of genetic driven decisions to prevent, diagnose, and treat the disease," said Jim Chinitz, Chief Executive Officer of Population Diagnostics. "The Institute uniquely combines patient care, basic research, and clinical research to provide an ideal environment for accelerating the translation of the genetic causes that we have discovered into clinical practice."