Introduction

Multiple sclerosis (MS) is a neurodegenerative disease affecting 2.3 million people worldwide, for which no diagnostic or predictive bio-marker exists to date. In this context, this invention constitutes a new method for the in vitro diagnosis of MS by analysing the expression levels of specific Human Endogenous Retroviruses (HERV).

Technical features

Multiple sclerosis (MS) is a demyelinating neurodegenerative disease affecting 2.3 million people worldwide. The disease has an early onset and causes a progressive disability. To date, a single test that can confirm in a certain and indisputable way the diagnosis of MS is not available, and the latter is based on multiple analyses, often expensive and invasive.
This invention provides a new method for in vitro diagnosis of MS, based on the analysis of expression levels of specific Human Endogenous Retrovirus (HERV). HERV represent ancient retroviral sequences integrated into the human genome, and are able to distinguish patients with MS from healthy controls in the analysis of transcriptomatic profiles of peripheral blood mononuclear cells, showing a high diagnostic potential for the disease.

Possible Applications

• Development of a method for the in vitro diagnosis of Multiple Sclerosis;
• Optimization of the above method in an in vitro diagnostic test for the clinical practice.

Advantages

• Answers to the unmet medical need of specific biomarkers for MS;
• Non invasive technique;
• Allows the early diagnosis of MS in a single test;
• Can be further explored to evaluate prognostic biomarkers and innovative therapeutic targets for MS.