Jocelyn Laporte

Biography

Jocelyn Laporte is research director at Inserm, the French National Institute of Health and Medical Research, and leads a research group at the Institute of Genetics and Molecular and Cellular Biology (IGBMC) in Strasbourg, France. With over 25 years of experience, he specializes in the genetics and pathophysiology of rare neuromuscular disorders, particularly congenital myopathies. His primary areas of expertise are human genetics and gene therapy for neuromuscular diseases.

In 1997, he obtained a PhD in molecular biology from the University of Strasbourg, under the mentorship of Professor Jean-Louis Mandel. He was recruited as a researcher by Inserm in 1998. His career has been dedicated to elucidating the molecular mechanisms of congenital muscle disorders such as myotubular and centronuclear myopathies (CNM), tubular aggregate myopathy, and Charcot-Marie-Tooth neuropathies. He has published more than 200 scientific articles, holds 8 patents, and has cofounded a biotechnology start-up.

Dr. Laporte’s research has led to the identification of several genes mutated in diseases and the development of preclinical therapeutic strategies, including gene therapy and pharmacology repurposing. His team employs an integrative approach combining human genomics, cellular and animal models, and translational studies. He actively serves on national and international scientific committees and advisory boards in the field of rare diseases.

Fellowship 2025

Dates - 01/10/2025-30/09/2027

Project summary

BIOMIMETIC PEPTIDES TO TREAT DYNAMIN-RELATED DISEASES

Neuromuscular diseases such as centronuclear myopathy (CNM) and Charcot-Marie-Tooth (CMT) neuropathy are rare, inherited, disorders caused by mutations in the same gene: DNM2, encoding the mechanoenzyme dynamin 2. Despite sharing a genetic origin, these diseases exhibit opposite molecular defects: CNM mutations lead to hyperactive forms of dynamin 2, while CMT mutations reduce its activity. To date, there are no effective therapies for these severe and disabling conditions.

This project proposes an innovative therapeutic strategy based on biomimetic peptides specifically designed to modulate the activity of dynamin 2. These peptides will either inhibit or activate the protein, depending on the disease context, and are inspired by structural interfaces within the protein or its interactions with membranes. The development of these peptides will offer a unique approach to precisely restore functional balance in DNM2-related disorders.

The project includes five key steps: (1) high-throughput screening of rationally designed peptides using in vitro assays; (2) optimization to improve peptide stability, cell penetration, and specificity; (3) validation in muscle and nerve cell models; (4) pharmacokinetic and biodistribution analysis in vivo; and (5) preclinical efficacy testing in established mouse models of CNM and CMT. The ultimate goal is to identify one peptide activator and one peptide inhibitor that demonstrate therapeutic benefit in vivo.

By developing disease-specific peptide modulators of a shared target, this research introduces a paradigm of “inverse therapies” for allelic disorders. It also opens new avenues for peptide-based interventions in neuromuscular medicine. Success would not only advance understanding of dynamin-related biology but also provide a prototype for personalized treatments of genetic diseases with opposing molecular pathologies.