Insights into the Pathophysiology of Neuromuscular Diseases by Novel Optical Microscopy Tool

Project acronym: NEUROPOL

Topics: optics instrumentation, diagnostic tools, molecular cell biology, neuromuscular diseases

 Disciplinary fields: biology, biochemistry, optics, photonics, genetics, rares diseases

Summary: Neuromuscular diseases (NMDs) are a broad group of clinically and genetically heterogeneous hereditary conditions, which affect nerves (Inherited Peripheral Neuropathies, Motor Neuron Disease and Hereditary Spastic Paraplegia), the neuromuscular junction (myasthenia) and muscles (myopathies, muscular dystrophies), with significant disability and early mortality. The overall prevalence of these diseases is quite high, with more than 500 defective genes known to date. For the first time, the mesure will be done of the organization of two key structures whose compromised integrity is a functional signature of NMDs: the myelin sheath that surrounds peripheral neuronal axons and the actin filaments which are involved in the process of axon myelination and make up the contractile apparatus in skeletal muscle. Thus, NEUROPOL uniquely combines optics instrumentation development, molecular cell biology and pathophysiology investigations for studying neuromuscular diseases. The project, with such complementary tools mastered by leading teams in their fields, will be able to launch a new type of approach, using structural optical imaging to gain a molecular-scale understanding of diseases that can ultimately be extended to other biomedical questions.

 Project interlocutor: Manos Mavrakis, Institut Fresnel

Project duration: 03/01/2018 – 02/28/2021

Call for application: Interdisciplinarité 2016

Photography credits: Photo by Ousa Chea on Unsplash

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