Objective/Rationale:
The primary goal for the project is to develop a highly accurate and reproducible gene expression signature in blood to discriminate Parkinson disease both from other closely related diseases and from healthy individuals.
Project Description:
We will use the knowledge and information generated from two independent whole genome gene expression studies to select a set of genes informative for Parkinson disease using blood as the clinical sample. Among these genes a subset will be selected and included on a customized gene expression platform that should be user-friendly, robust, cost effective and commercially viable. On this platform the gene expression of a new set of blood samples will be tested and a diagnostic model for Parkinson disease will be developed that is able to distinguish the disease from other closely related diseases and from healthy individuals. The model generated will further be validated using blood samples collected from an independent set of individuals with and without Parkinson disease.
Relevance to Diagnosis/Treatment of Parkinson’s Disease:
A convenient and accurate tool to distinguish individuals with Parkinson disease at an early stage will help to identify amenable patients for clinical trials. Outside the scope of this study but of interest to be evaluated later is that the gene expression tool also has the potential to monitor the effect of treatment during clinical trials as a pseudomarker for disease activity.
Anticipated Outcome:
With a successful project we will have a validated product prototype that can be used for an accurate detection of early PD using a blood sample but the prototype will need to be further validated in a clinical setting. To distinguish individuals with PD at an early stage will help to identify amenable patients for clinical trials and eventually also to monitor the effect of treatment during clinical trials as a pseudomarker for the disease.
Final Outcome
Dr. Lonneborg and colleagues identified different gene expression patterns in human blood samples that showed clear ability to distinguish PD from healthy control subjects in an initial set of samples. Work is now in progress to verify these findings in additional independent blood samples, as well as in samples from PD-like diseases.