Translational Medicine and Neurogenetics

Welcome to the homepage of the department Translational medicine and neurogenetics

Research goals of the department of Translational Medicine and Neurogenetics are to identify the genetic causes, understand the pathophysiological mechanisms and develop innovative therapeutic strategies for neurodevelopmental, neuromuscular and neurodegenerative genetic diseases. A major strength of the TMN department is its integrated approach, which covers exploration of pathophysiological mechanisms from their genetic and molecular levels to animal physiology. Another strength is its translational approach, from the identification of novel genes and mutations implicated in diseases to the development of diagnostic tools and therapeutic strategies. Major research activities of the department comprise:

• First, in close collaboration with clinicians through worldwide collaborations and close connections with the Strasbourg University hospital and its diagnostic laboratories, research groups of the TMN department seek for novel causative mutations and genes, develop diagnostic strategies and study the phenotype spectrum and natural history of human disorders.
• Furthermore, to understand the chronology and pathophysiology of these diseases and their comorbidities, TMN groups perform deep functional analyses by developing and studying relevant model systems, including in silico and bioinformatic analyzes, isolated molecules and protein complexes, omics approaches, primary cell cultures and iPS cells from patients, as well as zebrafish, mouse and rat knockout and knockin transgenic models, etc.
• Ultimately, our goal is to develop innovative therapeutic approaches, notably through gene modulation and pharmacologic approaches.

These integrated and translational approaches allow the functional characterization of genetic mutations affecting neurons and muscle from the molecular and cellular levels to the whole living organism.

Overall, during the last past ten years, research teams of the TMN department have participated to the identification of 44 novel disease-causing genes, contributed to >500 publications (>15 000 citations), 14 patents and licenses and to the creation of 2 start-up (AAVLife / Annapurna Therapeutics; Dynacure) dedicated to the development of innovative therapeutic strategies.