beat4life has now raised the initial $51K US, required for Dr Anne Bang to complete a vital and exciting phase of drug research. By using advancements in medical technology Dr Bang and her team can now screen hundreds of drugs in several days on lab grown heart cells, quickly determining if any existing drugs can protect the hearts of children like Daniel and Fletcher. beat4life will continue to raise funds for the next phase of this research.
Gisèle Bonne ,PhD, is team leader at the Research Center for Myology, Institut de Myologie, Université Pierre et Marie Curie, Inserm, CNRS, Paris, France.
Her research interest focuses on the analyses of skeletal and cardiac striated muscles in normal and pathologic conditions. Her PhD thesis (1990-1994) was on the human cytochrome C oxidase complex during development and in mitochondrial myopathies. To complete her training in genetics, she went to Ketty Schwartz lab for post-doctoral training where she identified the first mutation in the MYBPC3 gene, encoding the cardiac myosin binding protein C, responsible for familial hypertrophic cardiomyopathy (1995). In 1996, she obtained the position of senior researcher and conducted research on the genetics and pathophysiology of Emery-Dreifuss Muscular Dystrophy (EDMD).
Gisèle identified the first mutation of LMNA gene encoding Lamins in 1999. Mutations of this gene have since been linked to a wide spectrum of disorders such as the laminopathies including L-CMD. Her research program has evolved over time towards the genetics and pathophysiology of Laminopathies and their related disorders as well as the genetics and physiopathology of several other neuromuscular disorders. She is now leading a team of 20 researchers working not only on EDMD, but also collagen VI related myopathies at the Myology Institute (Paris, France). Her team has created 2 knock-in mouse models reproducing LMNA mutations identified in patients, models that mimic well some of the human disease features and thus represent unique tools to test therapeutic strategies. Gisèle Bonne is vice-chair of the French Society of Myology, member of the European NeuroMuscular Center (ENMC) research committee, and of the World Muscle Society (WMS) executive board.
Institut de Myologie overview:
The Institut de Myologie (Myology Institute) is a reference centre for international expertise on diseases, accidents and aging of muscles, intended for research, diagnosis, care and teaching programs, within the Pitié-Salpêtrière Hospital complex (Paris). The Myology Institute houses research teams, genetic diagnostic services, a neuromuscular clinical unit dedicated to both medical care and clinical trials (including gene therapy and cell therapy), biological repositories (DNA, tissues), a neuromuscular disease clinical unit, neuromuscular physiology assessment team, neuromuscular disease laboratory; MRI laboratory; physiopathology and striated muscle therapy INSERM unit U582; Stem cell and muscle biology INSERM unit.
