Newsletter :: Institut de Myologie
#16
Bimonthly Newsletter - August/September 2008  
:: Focus on the Summer School of Myology
  Interview with JA Urtizberea
  Students' words
  Archives
:: International breaking news
  Disease-specific stem cell lines developed
  Amyotrophic Lateral Sclerosis stem cell breakthrough
:: Latest research highlights
:: Agenda
:: In brief
  Publications
  Press release
  Call for projects
  Books
  Recruitment
:: Subscription
Edito
We hope you have had a relaxing and enjoyable summer. The highlight of this edition of the newsletter is undoubtedly the 11th Summer School of Myology. Dr. J. Andoni Urtizberea, co-founder of the Summer School, gives an account of the impressive progress made by the Summer School in the past 11 years. This year’s Summer School was indeed a great success, with a record of 45 students from all corners of the globe attending. Our featured interviews with some of the students provide you with interesting reports and highlights of the Summer School from their perspective. And as always, our newsletter offers you information about upcoming events, latest national and international research highlights, and new publications from research teams at the Institute.
R.N.C.
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   Focus on the Summer School of Myology

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  J. Andoni Urtizberea
Interview with J. Andoni Urtizberea, co-founder, with Michel Fardeau, of the first summer school in 1997

The summer school has existed since 1998 and has already trained 350 to 400 students worldwide, with whom contacts are kept. It has created a “community”, within which there are discussions around diagnostic cases and exchanges concerning research progress in specific areas. Former students can also benefit from proposals to come and occupy positions as researchers or medical doctors, according to the needs of different research teams at the Institute of Myology or elsewhere in the myology community.

What are the profiles of the students that you are welcoming this year?
From their training viewpoint, the vast majority are young medical doctors at the end of their curriculum, mainly residents in neurology, paediatrics and neuropediatrics. As for their geographical distribution, as always, we are giving priority to students from Southern (Spain, Italy) and Eastern (in partnership with the TREAT-NMD network) European countries and of course up-and-coming countries (South American countries, India, China, North Africa). Regarding the student profile, we have remained in general, fairly traditional and true to our original objectives.
> Access the complete interview

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Vanessa Van der Linden and Monika Ostrowska
Students' words

This year, we asked a few students for their interests and feelings about the summer school of myology.
 
Vanessa Van der Linden (upper picture) comes from Recife, Brazil and Monika Ostrowska (on the lower picture) comes from Krakow, Poland.
> Watch

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Archives from 2004

From the 7th edition (2004), we keep some details of each edition : some elements on students and lecturers (2006), interviews (2005, 2008), and, for the first time for the 10th édition in 2007, a yearbook meant to carve some fond memories in participants' minds.

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   international breaking news

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Disease-specific stem cell lines developed

Researchers from the Harvard Stem Cell Institute (HSCI) have produced a robust new collection of disease-specific stem cell lines, all of which were developed using the new induced pluripotent stem cell (iPS) technique. The new iPS lines, developed from skin and bone marrow cells of patients ranging in age from one month to 57-years old will be deposited in a new HSCI iPS Core laboratory being established at Massachusetts General Hospital (MGH) and will be made available to researchers worldwide. The cell lines the researchers produced carry the genes or genetic components for 10 different diseases, including Parkinson’s Disease, Type I diabetes, Huntington’s Disease, Gaucher’s Disease, and two forms of Muscular Dystrophy. The researchers hope to add other disease-specific lines to the depository. This marks an important achievement and a very significant advance for patients suffering from degenerative diseases. The most immediate application of the disease-specific stem cells will be to reproduce human diseases in culture to explore their development in different tissues. The technique will even enable researchers to compare how the same disease varies among people, by generating disease-specific stem cell cultures from many individuals. These disease-specific iPS cells are invaluable tools that will allow to explore gene therapies for some conditions, and will aid in the development of drugs to slow or even stop the course of a number of diseases.
Cell. 2008 Aug 6. [Epub ahead of print]

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Amyotrophic Lateral Sclerosis stem cell breakthrough

Scientists at Harvard University and Columbia University have converted skin cells from an 82-year-old woman with amyotrophic lateral sclerosis (ALS) into stem cells that formed motor neurons with the same genetic make up as the patient. The breakthrough opens the possibility of modeling a patient's specific disease outside of the patient, to improve investigation and drug screening, and perhaps even to develop new neurons to replace the damaged ones in the patient. ALS, also known as Lou Gehrig's disease, is a progressive degenerative disease that attacks the motor neurons in the spinal cord, leading to paralysis of limbs and respiration. Induced pluripotent stem cells (iPS cells) were generated from fibroblasts taken from the skin of an 82-year-old woman with a familial form of ALS. The patient-specific iPS cells behaved like embryonic stem cells and differentiated successfully into motor neurons. Recent studies have shown it is possible to reprogram human fibroblasts and return them to a pluripotent state, where they become stem cells that can be coaxed into producing a range of other cells.  However, this is the first study to show it is possible to do this with the skin cells of an elderly patient with chronic disease. Despite these breakthrough results further studies are warranted because the cells are only useful if they are exactly the same as the ones causing the disease in the patient, partial replicates would be of little use.

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   Latest research highlights

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Discover our selection of scientific and medical publications in the fields of myology and neuromuscular diseases: a summary of each publication aimed at the general reader, highlighting the main points of the article and the authors’ conclusions is provided.

  • Antibodies to acetylcholine receptors in seronegative myasthenia - Read
  • Long-term enzyme replacement therapy in patients with Pomp disease - Read
  • ALS stem cell breakthrough - Read
  • Breakthrough study holds hope for advanced muscular dystrophy - Read
  • A low dose of sucrose just before exercise improves exercise capacity in patients with McArdle disease - Read
  • Stem cells hold promise for muscular dystrophy - Read
  • Corticosteroid treatment and cardiac function in DMD - Read
  • A new form of congenital muscular dystrophy caused by de novo LMNA mutations - Read
  • Long-term therapeutic benefit of AAV/antisense-mediated exon skipping - Read
  • Oculopharyngodistal myopathy in a Chinese family - Read
  • Risk factors identified for sudden death in myotonic dystrophy type 1 - Read

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   Agenda

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  • EAMDA/TREAT-NMD conference
    12-14 September 2008, Sofia, Bulgaria
    The 38th Annual General Meeting of EAMDA (the European Alliance of Neuromuscular Disorders Associations) will take place from 12th to 14th September 2008 in Sofia, Bulgaria, in association with TREAT-NMD.
    > For more information


  • Face to Face with Duchenne - 6th Annual International
    Duchenne Conference
    31st October - 2nd November 2008, London, UK

    Meet leading international Duchenne scientists at the cutting edge of new research. Develop understanding on how to ensure the best medical care. Find out about new clinical trials. Help to raise awareness of Duchenne and join our campaigns for a cure. Meet other families in your region and share experiences.
    >For more information


  • International Symposium on Rare Diseases - Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies
    16-18 November 2008, Valencia, Spain

    The aim of the symposium is to discuss the state-of –the-art of neuromuscular diseases as a whole, including muscular dystrophies, mitochondrial disorders, peripheral neuropathies, spinal muscular atrophy, motoneurone disease and Friedreich ataxia. We will be able to confront and compare pathogenic mechanisms and molecular targets for the different diseases, as a forum for discussion of the rational basis of the new therapeutic approaches.
    >For more information


  • The biology of Stem Cells
    November 27-28, 2008, Paris, France
    L'Institut des Cordeliers - 15, rue de l'Ecole de Médecine - 75005 Paris - France
    > For more information
  • > > > Access the complete list of upcoming conferences and meeting.


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       In Brief

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    Recent publications from the Institute

    • Claeys KG, Fardeau M, Schröder R, Suominen T, Tolksdorf K, Behin A, Dubourg O, Eymard B, Maisonobe T, Stojkovic T, Faulkner G, Richard P, Vicart P, Udd B, Voit T, Stoltenburg G.
      Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.
      Neuromuscul Disord. 2008 Aug;18(8):656-66. Epub 2008 Jul 23
    • Renou L, Stora S, Ben Yaou R, Volk M, Sinkovec M, Demay L, Richard P, Peterlin B, Bonne G.
      Heart-hand syndrome of Slovenian type: a new kind of laminopathy.
      J Med Genet. 2008 Jul 15. [Epub ahead of print]
    • Béhin A, Mayer M, Kassis-Makhoul B, Jugie M, Espil-Taris C, Ferrer X, Chatenoud L, Laforêt P, Eymard B.
      Severe neonatal myasthenia due to maternal anti-MuSK antibodies.
      Neuromuscul Disord. 2008 Jun;18(6):443-6. Epub 2008 Apr 22
    • Vignaud A, Fougerousse F, Mouisel E, Bertrand C, Bonafos B, Molgo J, Ferry A, Chatonnet A.
      Genetic ablation of acetylcholinesterase alters muscle function in mice.
      Chem Biol Interact. 2008 May 3. [Epub ahead of print]
    • Ozden S, Lucas-Hourani M, Ceccaldi PE, Basak A, Valentine M, Benjannet S, Hamelin J, Jacob Y, Mamchaoui K, Mouly V, Desprès P, Gessain A, Butler-Browne G, Chrétien M, Tangy F, Vidalain PO, Seidah NG.
      Inhibition of Chikungunya Virus Infection in Cultured Human Muscle Cells by Furin Inhibitors: IMPAIRMENT OF THE MATURATION OF THE E2 SURFACE GLYCOPROTEIN.
      J Biol Chem. 2008 Aug 8;283(32):21899-908. Epub 2008 Jun 17

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    Yves Champey
    Press Release

    A new president at the head of the Genethon laboratory - Yves Champey takes over from Bernard Barataud
    The board of directors at Genethon have nominated a new president to head the laboratory created in 1990 by the AFM (French Muscular Dystrophy Association). Thus Yves Champey succeeds Bernard Barataud, who has decided to hand over the reins after heading the laboratory between 1990 and 1995 and then between 1999 and 2008.
    >Access the complete press release (pdf - 2 pages - 83ko)

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    Call for projects

    The Myotubular Trust (Registered Charity No: 1113809) was set up in 2006 to raise money for research to find a cure and/or treatment for myotubular myopathy. A first call for research projects will be held in mid to late September 2008. Completed applications should be sent by mid December 2008 with awards being announced in April 2009. The Myotubular Trust are looking to fund projects that will help find a cure and/or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to European research bodies only.
    >For further information about the call for projects

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    Books

    • Stem cells and regenerative medicine
      By Walter C Low & Catherine M Verfaillie
    Stem cells have the ability to differentiate into cells that are found throughout the body. This fundamental property of stem cells suggests that they can potentially be used to replace degenerative cells within the body, and regenerate the functional capacity of organ systems that have deteriorated because of disease or aging. This authoritative textbook provides an overview of the latest advances in the field of stem cell biology, spanning topics that include nuclear reprogramming, somatic cell cloning, and determinants of cell fate; embryonic stem cells for hematopoietic and pancreatic repair; adult stem cells for cardiovascular, neural, renal, and hepatic repair; and manufacturing of stem cells for clinical use.

    book cover

    • Application of Muscle / Nerve Stimulation in Health and Disease (Advances in Muscle Research)
      By Gerta Vrbova, Olga Hudlicka, Kristin Schafer Centofanti
    This book provides essential information for Colleges and Training Centres who offer physiotherapy, beauty therapy and sports science courses as it explains both the scientific principles and the practical applications of electrotherapy. Valuable information is provided for all those interested in keeping fit with electrical stimulation, in an increasingly sedentary society where active exercise is difficult to maintain at adequate levels or when an injury or illness prevents active exercise. Electrical stimulation is an invaluable method of achieving better recovery of function after disabilities due to malfunction of the neuromuscular system, such as neurological disorders, stroke, spinal cord injury, and muscle diseases. This book explains exactly how electrical stimulation activates and transforms muscle, how it works on the cardiovascular system compared to active exercise and how it can be used both for healthy individuals and those needing stimulation for rehabilitation and recovery. It includes a comprehensive user’s guide for the practical application of electrotherapy.

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    Recruitment

    UCL Institute for Child Health - Dubowitz Neuromuscular Centre
    The Dubowitz Neuromuscular Centre (DNC) provides a multidisciplinary service as a leading clinical and research centre specialising in neuromuscular disorders affecting individuals in the paediatric age. The DNC involved in clinical trials, basic research focusing on understanding the cause of neuromuscular diseases in childhood and identifying novel therapeutic intervention. Research activities of the centre are focused on the genetic basis of Congenital Muscular dystrophies, muscle stem cell and experimental therapies for Duchenne Muscular dystrophy. The following positions are available:
    • Clinical Scientist (muscle pathology)- this is a tenured position to complement the diagnostic activities of the centre and promote research and development projects, mainly in the area of the diagnostic work commissioned by the National Commissioning Group, on congenital muscular dystrophies and congenital myopathies
    • Clinical trial coordinator- to support the ongoing clinical trial activities in collaboration with the adult centre for neuromuscular disorders at the Institute of Neurology. This position is for 3 years and available immediately.
    • Research physiotherapist -also in collaboration with the Institute of neurology, this position is for 3 years and available immediately.
      Postdoctoral position (genetic basis of congenital myopathies) - this is an 18 months project, available immediately.
    For formal enquiries please contact Prof Francesco Muntoni: f.muntoni(a)ich.ucl.ac.uk or
    Ms Janet Nicholas: j.nicholas(a)ich.ucl.ac.uk

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       Subscription

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    Discover our selection of scientific and medical publications in the field of myology and of neuromuscular diseases.

    The bimonthly Newsletter of the Institute of Myology keeps you up to date with developments in myology research, and presents a summary of the latest scientific, medical, political and associative news concerning neuromuscular diseases.

    You can access our Newsletter by connecting directly to the Institute of Myology website, or by subscribing.
     
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