Job ID: 106504

PhD project – Plasma profiling as a novel biomarker for a rare neuromuscular disease

Position: Ph.D. Student

Deadline: 2 April 2023

Employment Start Date: 2 October 2023

Contract Length: 3 years

City: Marseille

Country: France

Institution: Aix Marseille Université

Department: Marseille Medical Genetics (MMG)



The NeuroSchool PhD Program of Aix-Marseille University (France) has launched its annual calls for PhD scholarships for students with a master’s degree in a non-French university.

The following project is one of the 14 proposed projects. Not all proposed projects will be funded, check our website for details.


  • State of the art

LAMA2-related dystrophies are caused by a complete or partial deficiency of laminin-211. LAMA2-RD patents have mild to profound muscle weakness that can also be associated with central nervous system abnormalities, such as white matter changes and seizures. Disease biomarkers are critical to effectively detect and follow the potential changes in patients involved in therapeutic trials. Unfortunately, there are currently no validated biomarkers available for LAMA2-related dystrophies. A novel way to follow and diagnose various pathologies based on denaturation profiling of plasma using nanoDSF (Differential Scanning Fluorimetry) has recently been described for glioma by researchers of The INteractome Timone Platform (PINT). Similar approaches have also shown reproducible disease-specific profiles in various other pathologies. It is therefore possible that the nanoDSF could detect plasma profile patterns specific to LAMA2-RD patients, thus identifying a novel minimally invasive way to diagnose and follow patients.

  • Objectives

The two objectives of our project are to:

  1. test if denaturation profiling of plasma from patients can be used as a biomarker in LAMA2-RD disease population.
  2. explore the molecular processes leading to changes in plasma signature by analysing the extracellular environment of cultured cells from LAMA2-RD patients
  • Methods

Frozen plasma samples from LAMA2-RD patients and from age-matched controls will be analysed by nanoDSF instrument at the The INteractome Timone Platform (PINT) in the Institute of NeuroPhysiopathology (INP), Aix-Marseille University. The denaturation profiles obtained from plasma samples from LAMA2-RD patients will be compared to that of control samples using advanced AI methods in order to detect the differences that could serve as non-invasive disease biomarkers. To further explore the identified differences in plasma signatures between LAMA2-RD patients and controls, the changes in the extracellular environment of patient-derived cell cultures will be analysed by nanoDSF instrument.

  • Expected results

We expect to observe differences between the patient and the control plasma profiles, thus helping to develop a non-invasive LAMA2-RD biomarker for future clinical studies. We also expect to see the effect of extracellular matrix changes typically present in LAMA2-RD patient-derived cell cultures on denaturing profiles of extracellular media. By controlling the different aspects of cell culture, we plan to identify the molecular changes that affect the denaturing profile.

  • Feasibility

Our “Translational Neuromyology” group in the Nerve and Muscle department of the Marseille Medical Genetics institute as well as our collaborators at The INteractome Timone Platform (PINT) in the Institute of NeuroPhysiopathology (INP) have all necessary equipment and infrastructure to accomplish the proposed research project.

  • Expected candidate profile

We are looking for a curious and motivated candidate with a solid fundamental background in molecular biology and biochemistry. Experience in cell culture would also be a plus.