• Neruonal cells. Photo from 123rf.com

Molecular phenotyping for neurodegenerative diseases

We are developing an assay for earlier and more precise diagnosis of Parkinson’s disease. By using a targeted mass-spectrometry based biomarker tool, we aim to differentiate subgroups of patients exhibiting similar clinical symptoms but having different underlying molecular causes of disease. This will inform medication decisions and allow more targeted patient selection for clinical trials.

Second most common neurodegenerative disorder

Parkinson’s disease is a progressive neurodegenerative disorder diagnosed in approximately 10 million people worldwide for which there are no drugs that can halt the progression, or cure the disease.
Parkinson’s disease is generally diagnosed based on the motor symptoms presented to the clinician and whether these symptoms improve once treatment begins. A more precise diagnostic tool can provide an earlier indication of the disease course and response to medications for patients with Parkinson’s disease and their families.

Biomarker-based diagnostic tool

Mass-spectrometry based multiple reaction monitoring assays are unique in the ability to precisely quantify many proteins simultaneously. Using this technique, we have analyzed unique CSF and plasma biobank samples and identified a network of candidate peptide biomarkers that cover diverse molecular mechanisms of neurodegeneration. These biomarker candidates are currently being validated in longitudinal and pre-symptomatic samples.

Based on the biomarker candidates, our goal is to design in vitro diagnostic (IVD) products to be prescribed by physicians both for clinical evaluation and diagnosis of patients during treatment and during selection of patients for clinical trials in more targeted drug development programs.

Possibilities for improved patient care and drug development

The advantages of multiplexed mass-spectrometry based clinical diagnostics can include:

  • definition of subgroups of Parkinson´s disease with different molecular etiologies and response to therapeutics
  • differentiation of Parkinson´s disease from clinically similar atypical parkinsonian disorders such as multiple system atrophy or progressive supranuclear palsy 
  • prediction of risk for developing Parkinson´s disease, degree of severity and rate of disease progression
  • ease of measurements at multiple time-points for determining therapeutic efficacy
  • translation of new molecular targets into companion diagnostics for drug development programs


About the Project

This project is an effort to translate academic research into a useful clinical tool to improve patient care. The research has been carried out at Umeå University Hospital and the Department of Pharmacology and Clinical Neuroscience within the research groups of Lars Forsgren, Miles Trupp and collaborators. The project is currently resident at UBI in the Verify I phase in the business development process.

Graph courtesy of Miles Trupp research group Umeå university 

Figure above: The LC-MS method using isotope labeled internal standards allows separation of molecular components in patient samples in the liquid chromatography step and precise quantification of more than 50 proteins in the mass spectrometry step.

Umeå Biotech Incubator (UBI)
Box 7995, SE-907 36 Umeå, Sweden
Phone: +46(0)90- 15 49 70
Mail: info@ubi.se