http://www.institut-myologie.org/anglais/ewb_pages/a/actu_news_myologie.phpInstitute Events.fr-frhttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5362.phpThe XIV Summer School hosted 50 students. No fewer than 33 nationalities were represented this year including for the Europeans: 1 Italian, 1 Dutch, 1 Spanish, 1 Portuguese, 5 Germans, 3 British, 1 Irish and 2 Greek; for Central Europe: 2 Moldovans and 2 Hungarians; for Latin America: 5 Brazilians, 1 Colombian, 1 Argentinean, 1 Mexican and 1 Cuban; also for North Africa: 1 Tunisian, 1 Moroccan and 1 Algerian as well as 2 Iranians; 1 student from Saudi Arabia. Of note is the involvement of a student from Georgia, 2 Russians, 1 Chinese, 1 Indian and 1 Australian.As last year, on the afternoon of Friday, June 24 the students partook in the AFM's Family Days at the Parc Floral in Vincennes, a moment always well appreciated.For the second year the Summer School is in partnership with Berlin (Charité University), with the principal support of the AFM through the Institute, as part of the MyoGRAD initiative where courses were held from June 13th to 17th in Berlin, just before the summer school in Paris. Seven students including 5 Germans, 1 Austrian and 1 Polish followed the two courses in the same year.Sun, 24 Jul 2011 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5362.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5361.phpThe AFM's Family Days 2011 has ended after two days filled with information and exchanges. Between meeting with Raphael, the ambassador for the next telethon, the revelation of the name of this year's sponsor and the visit of Minister Xavier Bertrand, the 25th Telethon promises to be exceptional.For more information about Family days 2011 and the launch of the 25th Telethon please visit www.afm-telethon.frSun, 24 Jul 2011 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5361.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5360.phpFor the second year in partnership with the Charité hospital in Berlin, the Institute of Myology is offering nine international thesis scholarships in myology through the Myograd research program. A selection of 22 foreign students took place at the Institute on 16 and 17 May by a jury co-chaired by Simone Spuler from Berlin and Thomas Voit, Scientific and Medical Director of the Institute of Myology. More than 10 countries are represented, including China, Italy, Iran and South America. Selected students will conduct their thesis between Paris and Berlin.Sun, 24 Jul 2011 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5360.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5359.phpFrom 9 to 13 May 2011 in Lille, the AFM organized Myology 2011, the 4th International Congress dedicated to myology. Nearly 1,000 scientists and medical doctors specialising in muscle and its diseases were present to review the scientific and medical advances of muscle and neuromuscular diseases.Myology 2011 was an opportunity for international experts in the field to exchange and confront the emerging therapeutic approaches, but also to share the first clinical results. Three years after Myology 2008 in Marseille, this fourth edition highlighted the dynamism of this new discipline, myology, since in about twenty years, therapeutic approaches have multiplied and clinical trials in man are now underway.For the program of Myology 2011, Tuesday and Wednesday were devoted to basic research and the following two days to clinical research.Sun, 24 Jul 2011 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5359.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5358.phpThe 2010 Telethon raised a grand total of 90450886 euros. Despite stormy weather and a difficult economic climate, a million donors, 200,000 volunteers and 5 million participants showed their commitment to patients and their families in the fight against neuromuscular diseases.Well done and above all THANKS!Sun, 24 Jul 2011 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5358.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5271.phpMartine Barkats, Perrine Castet, Anne Bertrand, Etienne Mouisel, et Monica Mezmezian These five researchers from the Institute of Myology (IM) received an award for their work presented as a poster or plenary presentation at the 15th International Congress of Myology, "World Muscle Society, held in Japan October 12-16.“It's a great result for the Institute,” said Thomas Voit, medical and scientific director of the Institute, who himself gave a presentation about the present situation and perspectives of gene therapy in muscle with AAV vectors. These awards clearly reinforce the high profile of teams from the IM and also highlight the importance of the support given by the AFM.”This year's edition brought together 379 participants from 36 different countries, among the best clinicians and scientists in the world of muscle. And for the first time, several biotech (Prosensa, Avi Biopharma, PTC Therapeutics ...) presented the results of their clinical trials, confirming the increasing position of therapeutic approaches in this type of event.Mon, 10 Jan 2011 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5271.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5178.php The AFM has launched its Call for Proposals with two review sessions. The deadlines are October 8, 2010 (first session) - notification expected mid-February 2011 and March 4, 2011 (second session) - notification expected mid-July 2011. > Call for Proposals 2011 > 2011 Instructions for Preparation of Applications   Grants> 2011 Application for Research Project form > 2011 Application for Research Project Renewal form > 2011 Application for Trampoline Grant form   Fellowships > 2011 Application for PhD Fellowship form > 2011 Application for PhD Fellowship Renewal form > 2011 Application for Post doctoral Fellowship form > 2011 Application for Post doctoral Fellowship Renewal form Tue, 31 Aug 2010 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5178.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5065.php The cause: the necessity for Gisèle Bonne to recuperate space and thus remove the filing cabinets from her office filled with reprints: Ketty Schwartz's archives and the Inserm laboratory.On arrival, more than 1,300 articles published from 1978 to 2008 are available at the library. The referencing, undertaken by Solange Lliteras for her Institute of Technology Diploma internship, lists publications from U153*, U523**, and U582*** successively directed by Michel Fardeau, Ketty Schwartz and Pascale Guicheney.These articles represent the foundations of myology. They recount the history of research conducted in this field at the Pitié site. They are now available at the Institute library (Babinski Building) and easily accessible through the EndNotes database that indexes them. Two types of publications are listed: peer-reviewed articles and educational publications. Each reference corresponds to a physical document.> Information and consultation of documents from Nathalie Haslin : 01 42 16 58 88n.haslin(at)institut-myologie.org* U153: Development, Pathology, regeneration of the neuromuscular system, directed by Mr. Michel Fardeau and Mrs. Ketty Schwartz** U523: Genetics, pathophysiology and therapy of skeletal and cardiac muscle disorders, directed by Mrs. Ketty Schwartz*** Unit 582: Pathophysiology and therapy of striated muscle, directed by Mrs. Pascale GuicheneyThu, 24 Jun 2010 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5065.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5023.phpUnder the leadership of David Sassoon, director of the Myology Research Unit UMRS787-Group of the Institute of Myology, several research groups have joined forces with industrial partners to launch a large European collaborative project, EndoStem. It aims to advance the treatment of muscle diseases that affect a large number of patients. The project will promote the development of strategies involving skeletal muscle, blood vessels, the immune system and stem cells to directly repair damaged muscle tissue.This project includes INSERM, the Institute of Myology and UPMC (Université Pierre et Marie Curie).Thu, 27 May 2010 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_5023.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4972.php On March 3, PTC Therapeutics and Genzyme Corporation announced the suspension of the development of ataluren, also called PTC 124. This molecule was expected to promote the restoration of a functional dystrophin in Duchenne/Becker muscular dystrophy patients with nonsense mutations (or stop codons) of the gene encoding this protein. But the primary outcome measure, the total distance walked during a 6-minute walk test, was not attained. Even though the first analyses of data are reassuring, they have not demonstrated a statistically measurable efficacy. It was therefore decided to suspend the trial to carryout additional analyses. The treatment appears to be more effective in some patients than others and the reason needs to be understood before going further. In any case, PTC and Genzyme seem determined to move forward to find a way to formally prove the effectiveness of this molecule. The development of the drug is thus currently suspended while awaiting more detailed analysis of the trial results.Mon, 19 Apr 2010 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4972.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4958.phpJust approved by the CPP, DELOS (DuchEnne Muscular Dystrophy Long-term Idebenone Study) is designed to determine whether taking idebenone significantly improves lung function in 10 to 18 year-old boys suffering from Duchenne muscular dystrophy. Idebenone is a molecule that could help improve the energy supply to cells. An earlier “pilot” study in Leuven has demonstrated an increase in “peak expiratory flow” measures in boys who took the drug.This is a Phase III double-blind, randomized, multicentre, placebo-controlled study. It will last for 52 weeks and will involve visits to the study centre every three months after the first visits. The treatment will be administered orally (tablets, three times daily). Outcome measures include respiratory tests (respiratory function tests) and blood samples. Two hundred and forty patients will be recruited in eight countries (Austria, Belgium, France, Germany, The Netherlands, Sweden, Switzerland, The United States). The addresses of recruitment centres are listed at: http://clinicaltrials.gov/ct2/show/NCT01027884. The Institute of Myology in Paris is the only centre in France (see details below). The principal investigator at the Institute of Myology is Professor Voit. The Institute will include ten patients.Patients that may be included in the study are males aged 10-18 years with Duchenne muscular dystrophy, with some respiratory insufficiency on pulmonary function tests, but that does not require a respiratory assistance device. The patient's genetic mutation type is not important in determining eligibility. In the first enrolment period, the study is seeking patients who are not taking glucocorticoids. There are other criteria that can be discussed with the study personnel.For information for French patients and physicians interested in the study, contact:Cellule des Essais Cliniques de l'Institut de Myologie à l'hôpital de la Salpêtrière47 boulevard de l'Hôpital 75013 Paris01 42 16 58 73cellule_essai(a)institut-myologie.orgMon, 29 Mar 2010 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4958.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4937.php The Généthon DNA and Cell Bank and the Tissue Bank of the Institute of Myology, Myobank-AFM are biobanks (banks which consist of samples of biological materials) which make tissues, cells, or human DNA available to scientists for their research.Both created by AFM, the Généthon DNA and Cell Bank (in 1990) and Myobank-AFM/Institute of Myology (in 1996 at the La Pitié Salpetrière hospital in Paris), consist of biologic resources from completely voluntary and anonymous donations, most of the time from persons affected with neuromuscular disorders or other rare genetic diseases.Since 1997 the activities of the Généthon bank have diversified. Besides collecting blood and DNA from patients with genetic diseases and stocking the samples for use in research, the activities of the bank have been oriented towards the provision of services such as DNA extraction, establishment of cell lines, etc.). “We make our savoir-faire available to our users at cost, such as the Institut Curie for cancer, for example”, says Safa Saker-Delye, head of the Généthon DNA and Cell Bank. The specificity of Myobank is that it works in direct contact with the clinicians. Collaborations are carried out directly on the spot. “We have a rather atypical structure,” explains Maud Chapart who, with Stéphane Vasseur, directs Myobank-AFM. “At Myobank we are the ones who contact the surgeons. We spend 50% of our time on the spot, meeting the medical practicioners and physician-scientists, in order to find the samples. This is the main difference from the Généthon bank, which receives the samples directly from the physician-scientists.”   Généthon DNA and Cell Bank> 413 pathologies listed as of December 31, 2009, 23% of which were neuromuscular diseases> 98 genes localized and 73 genes identified for genetic diseases using samples from the bank>250 000 euros billed per year for external services, i.e. half of the budget of the bank >>For more information about the Généthon DNA and Cell Bank Myobank-AFM/Institute of Myology> 147 pathologies listed as of January 1, 2010, of which 55 are neuromuscular> 275 collaborations with clinicians and 178 with scientists throughout the world> 4 982 patients have provided specimens >>For more information on the Myobank of the Institute of MyologyTue, 23 Feb 2010 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4937.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4902.phpAfter an initial year of pilot collaboration, the AFM is extending its partnership with Myosix, which is specialized in the production and development of cell therapy products, for the free provision of myoblasts to research teams working to develop therapies for neuromuscular diseases: 12 teams in France and abroad have already benefited from this service, with a provision of 88 batches of myoblasts. The myoblasts used were tissue extracts from healthy volunteers or patients with certain dystrophies (FSH, DMD, DM1, ...) from the collections of the Research Tissue Bank (Myobank-AFM, Institute of Myology).Fri, 29 Jan 2010 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4902.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4901.phpThe PTC phase 2B trial on Duchenne muscular dystrophy (DMD) has closed. The 4 children participating from the Institute of Myology in the double blind protocol are thus part of the open study. They will receive the treatment that overrides the stop codon. This trial aims to assess whether the molecule PTC124 improves the ability to walk as well as the function and muscle strength, and if it is well tolerated by patients. The first results are expected between March and June 2010.Fri, 29 Jan 2010 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4901.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4900.phpFollowing the appraisal visit by the steering committee of the rare diseases reference centres on November 9, 2009, the neuromuscular disease reference centre, the Institute of Myology, received an approval for a 5 year renewal in the second national rare diseases plan for 2010-2014.Fri, 29 Jan 2010 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4900.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4894.phpMartine Barkats and her 8 colleagues recently arrived at the 105 Boulevard de l'Hôpital, in the site of the university Paris 6. Previously based at Genethon, they joined the group working on "Central Nervous System and Biotherapies" in Luis Garcia's team (Biotherapies for Neuromuscular Diseases) within U974 directed by Thomas Voit.Mon, 18 Jan 2010 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4894.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4893.phpThis project, involving several teams from the Institute, Genethon and the veterinary schools of Nantes and Maison-Alfort, aims to determine the feasibility, effectiveness and application methods of the vector-drug “AAV-U7” injected into an isolated muscle (loco-regional injection) for the treatment of Duchenne muscular dystrophy. Experiments on the canine dystrophic model will take place during 2010, by using conditions of maximum quality and using products and methods that are clinically compatible, to shorten the transition to humans if successful.Wed, 13 Jan 2010 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4893.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4759.phpMonday, September 28, the heads of Genethon's Functional Assessment teams (Daniel Stockholm and Marie Montus) welcomed their counterparts from the Institute of Myology: Dr. Yves Fromes (Research Director, team leader “Physiology and in vivo evaluation of biotherapy”, UMRS 974) was accompanied by Jean-Yves Hogrel (head of the Physiology and Neuromuscular Evaluation centre), as well as Alban Vignaud, research engineer and Bodvaël Fraysse, post-doc. During this meeting, the functional evaluation activities of the two armed wings were presented and the respective results discussed. The objectives were clearly recalled:· to guarantee the synergy between the 2 sites, while reinforcing the strengths of each· to share expertise, equipment and resources· to establish standardized procedures for evaluation and measurement to develop tools to evaluate the effectiveness of preclinical approaches and thus have robust data for regulatory dossiers.Fri, 09 Oct 2009 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4759.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4758.phpOn September 24 the 1st Myositis symposium was held at the Auditorium of the Institute of Myology, bringing together neurologists, rheumatologists, interns, anatomical pathologists and biologists involved in the treatment of inflammatory myopathies. This meeting was organized by the Institute of Myology and the Internal Medicine Department of the Pitié Salpêtrière Hospital.70 participants from all over France (Lille, Rouen, Reims, Caen, Paris, Angers, Nantes, Marseille) attended the symposium, as well as two prestigious guests from Los Angeles (King Engel and Valérie Askanas).This meeting was held under the triple sponsorship of the Myopathies Study Group (GEM), the Rheumatism and Inflammations Club (CRI) and the French National Society of Internal Medicine (SNFMI), with the support of the AFM.The program included a dozen presentations of dossiers concerning the classification of diseases and/or immunosuppressive therapy. These presentations were interspersed with recent developments (anti-SRP antibodies and other myositis specific autoantibodies, the contribution of the transcriptome in the diagnosis of inflammatory myopathies and the management of diffuse interstitial pneumonia in myositis).In light of the success of this first meeting, others will be organized at a pace and format that will be defined after the results of the participant's survey.Fri, 09 Oct 2009 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4758.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4723.phpHéloïse MONGUE-DIN will defend her thesis on September 22 at 14:00 at the Enfance block, Pitié Salpêtrière Hospital.Summary: Cardiac involvement is the main determinant of prognosis for patients suffering from myopathies. During heart failure, the collagen content in tissue increases, leading to interstitial fibrosis, responsible for structural and functional alterations of the heart muscle. Furthermore, the altered regulation of cardiac electrical activity is a major factor in the pathogenesis and progression of heart failure. The heart rate variability (HRV) reflects the functional status of the sinus node and its regulation. Therefore studying the HRV could allow the analysis of the evolution of alterations in cardiac electrical function and the early identification of the cardiac involvement in a patient with myopathy. Finally, an antifibrotic treatment might delay the structural deterioration of heart muscle.The objective of this thesis was to study the evolution of HRV in the myopathic hamster CHF147, deficient in delta-sarcoglycan, with a severe and progressive cardiac involvement. The quantitative analysis techniques for HRV are designed to detect early changes of cardiac electrical activity. Finally, the effect of antifibrotic therapy based on administration of AcSDKP in CHF147 hamsters was evaluated.The HRV study, based on the analysis of long time series of interbeat intervals (RR intervals) was conducted in hamsters of different ages. In healthy hamsters, a maturity profile of HRV was demonstrated. In CHF147 lineage, we identified a delayed maturation and reduced variability resulting in a marked reduction of HRV at an advanced stage of the disease. This indicates an early dysfunction of cardiac electrical activity and demonstrates an increase in sympathetic tone during the last quarter of the CHF147 hamster's life.The histological study revealed that the cardiac content of interstitial collagen is normal in cardiomyopathic hamsters until the age of 6 months. However, a rapid doubling is observed at a later age, indicating a pathological myocardial fibrosis. We were able to demonstrate that modifications in HRV are highly correlated with the onset of myocardial fibrosis. Benefiting from this diagnostic method, we evaluated the antifibrotic potential of an endogenous tetrapeptide, AcSDKP. Clinical surveillance has shown no toxicity. It appears that the treatment with AcSDKP prevents the development of interstitial fibrosis in CHF147 hamsters at an early age. The beneficial effect of AcSDKP on HRV has been demonstrated in these animals.In summary, these studies show that quantitative analysis of HRV based on a surface ECG recording allows the early identification of alterations in cardiac electrical function. Moreover, the administration of low doses of AcSDKP showed antifibrotic properties, which suggests a new therapeutic option in the management of cardiac involvement in myopathies.After studying pharmacy, Heloise MONGUE-DIN began her PhD in Physiology and Biology of Circulation at the University Paris 7, Denis Diderot (Doctoral School B2T) at the INSERM Unit 582 in the group of Dr. Marc Fiszman, under the direction of Dr. Yves Fromes and Marcel Toussaint. Since early 2009, the group of Dr Yves Fromes has joined the INSERM 974 mixed unit directed by Professor Thomas Voit. The theme of this research group is mainly oriented towards the Physiology and in vivo Evaluation of Biotherapies.Mon, 21 Sep 2009 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4723.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4722.phpLucie GUENEAU will defend her thesis on September 25 at 14:00 in the auditorium of the Institute of Myology.Summary: Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare disease characterized by early-onset tendon contractures, slowly progressive muscle weakness and atrophy and cardiac involvement in the adult, which is a frequent cause of sudden death. This is either an X-linked (mutations in the EMD gene encoding emerin) or autosomal (LMNA, lamins A/C) condition. Our epidemiological study shows that 8.5% of patients are carriers of EMD mutations and 26.5% of LMNA, leaving 65% or 382 patients without molecular diagnosis. A complete genome study identified a locus in Xq26.3 in 3 families, containing the FHL1 gene. The sequencing of FHL1 in these 3 families as well as other EDMD patients identified 7 novel mutations, 4 of which are for the first time out of phase insertions/deletions. Functional analysis of these mutations showed a severe reduction of FHL1 protein expression in tissues of patients and a severe delay in their myoblast differentiation. In conclusion, we have characterized FHL1 as a major new gene responsible for EDMD.Among the families carrying LMNA mutations, there is an important inter-and intra-family variability in the severity and age of onset of muscle damage, suggesting the presence of modifier genes. We analyzed the EMD1 family in which all affected individuals carried the same LMNA mutation but presented a cardiomyopathy isolated or combined with a more or less early onset myopathy. A statistical study using quantitative traits based on a MCMC chain implemented in the LOKI software was conducted on data from 280 microsatellite markers and identified a locus on chromosome 2 linked to the age of onset of muscle symptoms. In this region, 2 candidate genes and their regulatory regions have been analyzed with no variant being detected. The identification of these modifier genes in such families will, among others, allow a more accurate prediction of phenotype and better follow-up of the disease in patients.Keywords: Emery-Dreifuss Muscular Dystrophy, cardiomyopathy, FHL1, modifier genes, lamins A/C, emerin.Lucie Gueneau began her PhD in Biochemistry and Molecular Biology (Speciality: Genome Analysis and Molecular Modelling), University Paris 6, Pierre and Marie Curie (Doctoral School B2M) at the INSERM Unit 582 in the team Dr. Gisèle Bonne. Since early 2009, the team of Dr. Bonne has joined INSERM Unit 974 directed by Professor Thomas Voit. The theme of this research group is mainly oriented towards the Genetics and Physiopathology of Neuromuscular Diseases.Mon, 21 Sep 2009 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4722.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4719.php Sandra Duque will defend her thesis on September 30 at 14h (2 pm) at the Institut de Myologie (Institute of Myology)   Summary: Diseases of the motoneuron are disorders which involve the motor system. These diseases, which include amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), are characterized by a progressive loss of nerve cells which control motricity, the motoneurons, in the motor cortex, the medulla and/or the spinal cord. There is no effective treatment to date for these diseases; both classical pharmacology and gene therapy strategies run into the problem of the blood-brain barrier.The development of gene transfer strategies leading to the efficient and long-term production of therepeutic proteins in the ensemble of motoneurons is therefore a crucial step for the treatment of these diseases.This thesis work consisted in improving gene transfer to motoneurons using AAV (adeno-associated virus) vectors. We first performed stereotactic injections of AAV1 or AAV2 vectors into cerebral nuclei connected to the spinal cord. We have shown that this method was effective for producing a therapeutic protein such as VEGF (Vascular Endothelial Growth Factor) throughout the spinal cord in mice (by anterograde transport of the exogenous protein along the nerve fibers linking the brain to the spinal cord). Furthermore, injection of AAV-VEGF in SOD1G93A transgenic mouse models for ALS led to a moderate improvement in the ALS pathology. In a second study we analyzed the potential of systemic injection of a new AAV serotype (AAV9) containing a non-conventional double-stranded genome, to transduce cells of the central nervous system (CNS) and in particular the motoneurons. We demonstrated that it was possible to obtain efficient long-term transduction of motoneurons in the adult mouse following a single intravenous administration of the vector. Additionally we observed the highest level of transduction of motoneurons reported to date, with an average of 19% of the motoneurons transduced in the adult mouse (this transduction level can reach 28%).This non-invasive strategy for gene transfer into the CNS represents a significant advance in treatment of diseases of the motoneuron by gene therapy. It opens new perspectives not only for gene therapy of neuromuscular diseases, but also for numerous other diseases which affect the central nervous system.   Sandra Duque began her thesis work for a doctorate in Biotechnology Therapeutics at the University Paris 7, Denis Diderot (Doctoral school B2T) at Genethon under the direction of Dr. Martine Barkats. The focus of this research group is principally oriented towards the development of new gene therapy strategies for neurogenic muscular atrophies (optimization of motoneuron targeting by gene transfer, and analysis of the therapeutic potential of genes of interest in animal models). In 2007 the team joined the "Biotherapy of Neuromuscular Diseases" group at the Institute of Myology in Inserm Unit UMR974 directed by Thomas Voit.Mon, 14 Sep 2009 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4719.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4714.phpThe renovation of the Babinski building research unit, conducted by the Institute with the approval of the regulatory authorities has terminated. In August, the move from one end of the Pitié Salpêtrière Hospital to the other was carried out in good spirits. People took possession of their new office, noted their new phone number and recuperated their belongings and computer connections; the laboratories and culture rooms are operational.The two new research units are now fully installed. The team of Gillian Butler-Browne, Vincent Mouly and Denis Furling has joined Gisèle Bonne's at Babinski. The teams from UMRS 974, directed by Thomas Voit, are thus united, with the exception of Luis Garcia's team, which will remain at 105 bd de l'hôpital along with the entire UMR787 unit. Frederick Relaix and Edgar Gomes have followed Ana Ferreiro's team by joining the group of David Sassoon, Director of the unit.Mon, 14 Sep 2009 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4714.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4713.php The AFM has launched its Call for Proposals with two review sessions. The deadlines are October 2, 2009 (first session) - notification expected mid-February 2010 and March 5, 2010 (second session) - notification expected mid-July 2010. This international call for proposals is centred around three axes that will lead to a better fundamental understanding of the neuromuscular system encourage the development of therapies for neuromuscular diseases and rare genetic diseases  improve care and quality of life of patients with neuromuscular diseases. > Please visit the AFM website for more information on their calls for proposals and fellowshipsThu, 10 Sep 2009 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4713.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4462.phpThe Immuno/rAAV network has recently been introduced by the AFM and Genethon.Its management was entrusted to Professor Olivier Benveniste for the Institute of Myology and Carole Masurier for Genethon. This network aims to develop collaborations between clinicians, immunologists, virologists and veterinarians involved in preclinical and clinical trials using AAV viruses*.On May 18-19 this network held a meeting in Nantes with the participation of about twenty people from the Institute of Myology, Genethon, the AFM and teams in Nantes and Rouen.The group gave an overview of this technique in human and animal diseases (dog and larger models), they distributed each person's role in defining this gene therapy product: vector design, transgene, administration route, dose and vector quality.* Adeno-associated viruses (AAV) are small DNA viruses, non-pathogenic, existing both in humans and primates. They are very attractive to serve as a vector for gene transfer and have demonstrated their efficiency in numerous gene therapy preclinical studies.Fri, 05 Jun 2009 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4462.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4442.phpWith no less than 8 publications in major international scientific journals in a period of only a few weeks, the research groups* at the Institute of Myology are highlighting their role as a motor in the progress of knowledge in the fight against these neuromuscular diseases. These results are the fruit of years of work and investments which have been possible thanks to donations to the Telethon; some of them will contribute to a better understanding of the disorders and others involve the development of innovative research tools for future clinical trials. *Research groups in the Institute of Myology as of January 1, 2009:(1) UMRS974 INSERM-UPMC-CNRS-AIM: "Therapies of the disorders of striated muscle" directed by Thomas Voit (2) UMRS787 INSERM-UPMC-AIM: "Myology Group" directed by David Sassoon Tue, 19 May 2009 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4442.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4408.php A study of motor function and the phenotype of the immune response in patients with myositis with “IBMan” inclusions is scheduled to begin in April at the Institute of Myology in the laboratory of physiology and neuromuscular evaluation (Jean-Yves Hogrel) in collaboration with the Department of Internal Medicine (Prof. Benveniste) and the Department of Biotherapies (Pr Klatzmann). This study sponsored by AIM is part of the broader clinical trial "Myoreg" (phase I cell therapy trial).This study has three main objectives: Investigate, through blood tests, the mechanisms involved in muscle degeneration, by characterizing and analyzing the activity of white blood cells circulating in the blood because they play a crucial role in this disease in muscle regeneration, by evaluating the importance of hematopoietic stem cells circulating in the blood of the patient Evaluate muscle strength and walking with clinical tests. These tests are performed by the laboratory of Physiology and Muscle Evaluation of the Institute of Myology, using equipment developed or adapted by the laboratory. This study will involve 40 people: 20 patients and 20 healthy volunteers (also called “controls”) matched by age, sex and weight. The groups of the Institute may contact you again for the recruitment of volunteers.Fri, 20 Mar 2009 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4408.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4402.phpThe XI “Myogenesis Symposium” organized by P. Maire and C. Marcelle was held on the 3 and 4 of February at the Institute of Myology in Paris. This meeting gathered 140 researchers from different French laboratories working in the muscle field. The presentations covered various areas such as stem cells, development, cell signalling and muscle diseases. > Access report and abstracts bookMon, 02 Mar 2009 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4402.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4377.phpIn the same spirit and in the continuity of the Scientific Board of the Institute of Myology Association held on November 4th 2008, international experts and NMR specialists came to reflect on the operation of the NMR laboratory research group. Two international experts C. Boesch, Professor at the University of Berne Medical School, and JM Franconi, Professor of Physics at the University of Bordeaux II, but also P Hantraye, Director of MIRCen (the new Molecular Imaging Research Centre in partnership with INSERM), and S. Braun from the AFM offered recommendations or suggestions to the leaders for its development.Mon, 02 Feb 2009 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4377.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4376.phpOn Monday 19 January 2009, Laurence Tiennot Herment-President of the Institute of Myology Association presented her greetings to the staff of the Institute of Myology and its partners. It was a special time to share and discuss the prospects for the Institute of Myology for 2009.Mon, 02 Feb 2009 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4376.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4375.phpAs with previous years, the staff of the Institute of Myology wasvery much involved in Téléthon events, again making this year a great success. In addition to the events that have proven successful inpast years (visits to labs, books, wine, breakfasts and lunch sales, free style races, massages) many new events were included this year: games tournaments, second-hand goods sale, performance of scientific experiments and a guided tour of the Pitié-Salpétrière hospital.Fri, 30 Jan 2009 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4375.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4365.php Since January 1st 2009, a mixed research unit, UPMC- INSERM-CNRS-AIM has been created which is headed by Thomas Voit, Scientific and Medical Director of the Institute. The primary objective of this new unit is to develop innovative approaches to cell, gene or pharmacological therapies, based on understanding the molecular pathophysiology of a disease, and therefore adapted to it. Four of the five teams in the unit are from a reorganisation of the two existing mixed research units UMR S-582 and UMR-S 787 Myology Group and teams of the Myology Institute Association (AIM). In parallel, the research unit UMR-S 787 Myology Group headed by David Sassoon, slightly modified, was renewed for 4 years and continues its more fundamental work on molecular and cellular mechanisms involved in the development of muscle and its pathologies.Tue, 13 Jan 2009 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4365.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4343.phpThe Institute of Myology has established a scientific council as stipulated in its statutes. According to formalisations made with board members and trustees (Institute of Myology, Pierre and Marie Curie University, Inserm, CNRS, AP-HP and the CEA), “its main missions will be to assess the overall functioning of the Institute, on its performance in relation to its resources and to make recommendations or suggestions to the administrators for its development. They will not assess the scientific quality of each project or each team because these assessments already exist for most and will be available to the committee. But it is good to have an overall assessment of the Institute, collaborations and synergies between each pole or team.” Or “to assess the dynamic thus created by the interaction between different specialties and the different poles of the Institute and how the Institute, thus organized, is effective in carrying out the entrusted tasks with its available means.” The establishment of this council is a joint approach between all the trustees of the Institute and, as such, the board is composed of one representative appointed by each trustee, as well as 5 international experts and 4 French experts (François Gros, Jean-Louis Mandel; Alain Privat; Nicole Ledouarin). All have been chosen for their competence in our different fields. Moreover, given the assigned objectives, it was hoped that “the committee members are able to appreciate the operation of such an organization and therefore know, in addition to the scientific fields, the operation of similar institutes in France and abroad.” The first scientific council met on Tuesday 4th November, in the auditorium of the Institute of Myology.Tue, 09 Dec 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4343.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4229.php From November 17th, members of the Institute will coordinate diverse and varied events, until the D day : Saturday, december 6th. BOOKTHON - Books sale at the Library of the Institute (Babinski)Nov 17-28 - 9h-17h30Contact: Nathalie Haslin (01 42 16 58 88) BOUGE-THON-CORPS - Danse show at the Auditorium of the Institute (Babinski)Nov 21 - 19hContact: Eloïse Ferly (01 42 16 58 53) $1Nathalie Abou-Kandil (01 42 16 99 66) SOIREE JAUNE - Concert Blues-Jazz-Rock at the Faculty of MedicineNov 21 - 20h-1h Contact: Maud Leclerc (01 42 17 75 06) $1Denis Furling (01 40 77 96 35) PETIT DEJEUNER de l'Institut Nov 25 - 8h-10hContact: Valérie Decostres (01 44 16 57 24) $1Rabah Ben Yaou (01 44 16 57 02) JEUTHON - Poker and babyfoot tournaments, various board and cards games the Institute (Babinski). Poker initiation at 18h.Nov 27 - 19hContact : Maï Thao Bui (01 42 16 22 42/43) $1Stéphane Roques (01 42 16 58 53) VENTE DE VINS the Institute (Babinski)Nov 27 Contact: Nicolas Vignier (01 44 16 57 16) BROCANTHON - Clothes, toys, jewels, books... secondhand trade at RislerDec 1, 2 $15 - 10h-14hContact: Emmanuelle Lacène, Maud Bévin $1Maï Thao Bui (01 42 16 22 42/43) DEJEUNERTHON - Lunch sale at BabinskiDec 2 - 12h30Contact : Stéphane Vasseur (01 42 17 74 63) $1Bérangère Pellerin (01 42 16 58 87) MARMITHON - Breakfast and lunch sale at Babinski, at the Nurse School and at CordierDec 4 - 7h-16hContact: Michelle Le Bec (01 42 16 56 99) $1Maud Leclerc (01 42 17 75 06) TOMBOLATickets sale from Nov 17.Draw on Dec 6.Contact: Maxime Grima (01 42 16 99 67) $1Stéphane Roques (01 42 16 58 53)Fri, 14 Nov 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4229.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4174.php The name of the Research Tissue Bank, ex-RTB, changes and becomes MYOBANK. It still plays the same role and it is still managed by Maud Chapart-Leclert and Stéphane Vasseur.The Research Tissue Bank (RTB) was created by the AFM to collecte, prepare ans store human tissue samples (muscle, skin...) and transport them towards research teams working in rares diseases.Mon, 15 Sep 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4174.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4171.php The Institute asserts itself as the initiator of scientific events by organizing a series of workshops on subjects related to myology. Thus it is continuing its efforts to promote international exchanges among researchers from different fields and with complementary expertise.The idea is to create conditions allowing genuine interactions. In an informal atmosphere, each workshop is organized around a small group of a dozen researchers gathered around a table for a day to exchange their latest results. The aim is to constructively progress on the chosen subject being and to create new collaborations. A report will be published at the end of each workshop.Upcoming workshops September 12: Myostatins October 24: Centronuclear myopathies The programs will soon be available on the website.Mon, 08 Sep 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4171.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4166.php It is now possible to register at the university to the IUD of Myology, the UD "Support for Individuals affected by a Genetic Disease and their Family" and the IUD of Psychopathology and Neurological Diseases.Those three courses are given in french. To apply, you have to send a CV and give details concerning your motivation to the organisers. After reviewing applications, they send back an authorization for the administrative registration.For further details : > IUD of Myology - Prof B. Eymard and Prof J. Pouget > UD "Support for Individuals affected by a Genetic Disease and their Family" - Prof P. Mazet > IUD "Psychopathology and Neurological Diseases" - Prof O. Lyon-Caen and Prof M. Montreuil Fri, 22 Aug 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4166.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4134.phpLucie Guéneau, PhD student in Gisèle Bonne's lab, U582, won in Myology 2008, the "best clinical research poster" prize presenting her work concerning "new genes involved in Eymery-Dreifuss Muscular Dystrophy (EDMD)". She worked on more than 2200 patient files to select patients presenting an EDMD phenotype (656 patients). The aim was to show that among those 656 patients, 65% were not carrying mutations in the 2 known genes (EMD coding for Emerine and LMNA coding for lamins A/C)indicating that other genes are implied. Identification of those new genes is ongoing in the lab.Tue, 24 Jun 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4134.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4132.phpThis year, Doctors from the consultation and from the clinical trials team will be on the Institute stand, as well as researchers, post-doc and PhD students. They all will be there to meet patients and their families. Visitors will be invited to discover various aspects of muscle along a specific tour, with members of different laboratories (muscular physiology and evaluation, NMR imaging, collection and analysis of muscle tissue samples, basic research questions)Tue, 24 Jun 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_4132.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3947.phpInvited by the AFM, nearly 900 researchers have been gathered in Marseille since yesterday to share their experience and knowledge of the muscle. “Thanks to your involvement, 21 years after the first Téléthon the genetic time-scale has been shortened and therapeutic advances obtained which have added years to patients' lives,” declared Laurence Tiennot-Herment, president of the AFM. During her opening address, she also rendered a heartfelt tribute to Ketty Schwartz, president of the Scientific Council of the AFM since 1998, who passed away last December. “Neuromuscular diseases represent a laboratory of innovation in biomedical research,” she emphasised. Thomas Voit, president of the Congress and Medical and Scientific Director of the Institute of Myology in Paris, added “this is a motor of innovation for all medicine – cell, gene and pharmaco-genetic therapies will be the therapies of tomorrow.” The congress will carry out an inventory of myology, an emerging discipline and incubator of ideas for the whole of medical science.Tue, 27 May 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3947.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3904.phpDays for Families and the 50th General Assembly of the AFM will take place at the Parc Floral in Paris on June 27th and 28th.Researchers and Doctors from the Institute of Myology, IStem and Généthon will share a space in the big hall. All experts present will answer questions from patients and their families. Days for Families will be inaugurated on Friday, June 27th at 12 pm. This will be followed by the plenary of information from 2:00-4:30 pm, which will be dedicated to the 50th anniversary of the AFM. The Village will be opened continuously from 4:30 to 7:30 pm and Saturday from 9 am to 5 pm. Note that on Saturday at 11 am, a film about the 50 years of the AFM will be projected in the plenary hall.Fri, 16 May 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3904.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3903.phpThe NMD-Chip network is a project of the European 2nd call for proposals whose objective is to accelerate the advent of leading edge therapeutics and therefore clinical trials. This network project is focused on the development of molecular genetics as a necessary tool for therapies concerning certain neuromuscular diseases. Following a favourable evaluation, the negotiation phase with the Scientific Committee responsible for Europe began and on Monday, April 21st a meeting to reply to the comments of the European Commission was held at the Institute of Myology with the main protagonists. Within the Institute, Thomas Voit, medical and scientific director, including research teams from Inserm UMR582, Gisèle Bonne and Pascale Richard, are involved in this network which is coordinated by Nicolas Levy from Inserm U491.Fri, 16 May 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3903.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3837.phpAfter receipt of all the government approvals, construction firms were under competitive tender and a choice was jointly decided with the architect, AFM and AIM. Work on the extension of the nuclear magnetic resonance (NMR) centre will start in March and is scheduled to open at the beginning of the academic year 2008.The first step is to regroup the NMR teams in the vicinity of the two magnets and also to welcome external teams depending on projects. Concerning the 200m2 thus created, ideas are not lacking for its use.  Coordination between the users and the different needs already planned will be necessary.Mon, 17 Mar 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3837.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3836.phpOn February 11 and 12 2008, a committee composed of national and internationalexperts, mandated by the Agency for the evaluation of research and highereducation (AERES), as well as representatives from Inserm, the University Pierreand Marie Curie (UPMC), the CNRS and the Institute of Myology Association (AIM)conducted a visit of the Institute. They were all present to assess the twoscientific files submitted as part of the four-year plan, 2009-2012.If these files are accepted, David Sassoon's Myology Group-UMR787 will berenewed and a new unit called "Therapy of striated muscle diseases " will becreated. This unit will be headed by Thomas Voit and will regroup some ofPascale Guicheney's teams. The rest of the team will join other research unitsat the Pitié Salpétrière. The units thus created will be under the affiliationof the UPMC, INSERM, CNRS and AIM.The assessments went very well, and the committee noted the high quality of theapplications submitted. In a few weeks, AERES will communicate the results ofthe evaluations. The affiliates will then decide on an implementation forJanuary 1 2009.Mon, 17 Mar 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3836.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3811.php On 10 January the AFM paid tribute to Ketty Schwartz, president of the Scientific Council of the Association, who died on 25 December 2007. Her friends and colleagues gathered in the amphitheatre of the Myology Institute in Paris in order to bear witness to how much Ketty Schwartz had marked not only their work as researchers and physicians, but also their lives, as well as those of patients and their families. Here are some of these accounts. > Some words formulated by researchers and physicians attending this tributeFri, 25 Jan 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3811.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3810.php It is with deep sadness that the AFM has learned of the death of Ketty Schwartz on 25 December. She had been a member of the AFM's Scientific Council since its creation in 1981, and its president since 7 May 1998. She was also to have been the honorary president of the next AFM-organised international congress of myology – Myology 2008 – which will take place in Marseille next May. For Laurence Tiennot-Herment, president of the AFM, and Christian Cottet, director general: “The French scientific community has lost one of its leading researchers, our Scientific Council a great president and our association its most loyal companion and guide. Just as we're setting out on the great turning point towards treatments, her absence will be felt all the more keenly.” > Read the portrait of Ketty Schwartz > Read the AFM press releaseFri, 25 Jan 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3810.phphttp://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3809.phpFrom the beginning of December members of the Institute have coordinated diverse and varied events, until the D day : Saturday, december 8th. You can watch the mobilisation photo coverage here (comments in french).Fri, 25 Jan 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/i/institute_events_3809.php