Spring 2009 MMDDII News Update Muscular Dystrophy Ireland, 71/72 North Brunswick Street, Dublin 7

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Spring 2009 MMDDII News Update Muscular Dystrophy Ireland, 71/72 North Brunswick Street, Dublin 7 MDI Newsletter - Issue 41 = Spring 2009 MMDDII News Update Muscular Dystrophy Ireland, 71/72 North Brunswick Street, Dublin 7. ! em Tel: (01) 8721501 Fax: (01) 8724482 Email: [email protected] Web: www.mdi.ie h t rt po p h] u h it s it le e s e up K u o to Pictured at a Photo shoot to t C & 4 le K a 0 ap n 4 ow & o [U 0 n S n launch MDI’s 2009 Awareness - a e 04 io // s it 4 at p: u n r 0 s tt ou l n h ed U v il se : Campaign are Fair City stars t a e - at or r F 'N r p o s O e ne p f rd b li u a an m n Sandra Curran (Una) & Alan s te w l u o y A A n e e o d ot h V w & an v (Keith) T o n r / O’Neill (Keith) with 5 year old N ra rd o .ie V ur o 7 e T C w 0 in e a e 3 az Caoimhe Boers from Wexford h r th 53 g Caoimhe Boers from Wexford T d t r a an x e m S te b w t s um o u n vn J e .t th w w w ffoorr rrlleeyy a HHaa iinn a Tickets available online WW at www..mdi..ie or call €€55 Amy at (01) 8721501 yy ll e 12 onn pag o See DI , M EO h y C wit one ck) Mo eri im.” Joe Lim Sw nts rom tre ese er f Me ) pr mb lion 0 ntre Me Mil ,00 (Ce DI a “ €50 inn y (M rom ise Qu tter ds f Ra ore ren Sla cee rs M Dar son pro me ch - 1 Ja the wim ear ge 1 ft) & S Res Pa (le for on MDI Newsletter - Issue 41 = Spring 2009 Research News MDI – Funded Researcher Makes the News Prof. Kay Ohlendieck, Head of Biology in NUI Maynooth, is one of MDI’s research grant recipi- ents, currently working on the project “Identification of Novel Biomarkers in Dystrophic Heart and Muscle Fibres Using Comparative Proteomics”. After meeting Prof. Steve Wilton from Austra- lia, who developed the exon skipping approach for Duchenne muscular dystrophy, they began col- laborating, and in January, Prof. Ohlendieck’s work was featured in the Irish Times and the Morn- ing Ireland radio show. Prof. Ohlendieck’s work strengthens the view that exon skipping has the potential to be a therapy for people with Duchenne muscular dystrophy. Prof Kay Ohlendieck Photograph: Frank Miller Article from the Irish Times - Fletcher from the centre for neuro- form, Ohlendieck says. The Thursday, January 22, 2009 muscular and neurological disor- probes go to predefined locations ders at the University of Western along the RNA chain and elimi- Fresh hope on Australia. It builds on initial work nate specific “exons”, the building done by Wilton, who developed a blocks of the protein which are wasting disease gene therapy to reverse the central assembled using the RNA instruc- A new approach to the treatment cause of the disease. The disease tions. “Because it skips over the of muscular dystrophy offers hope causes muscle weakness and defective exon it eliminates that to sufferers for a reversal of the eventual cell death when a key but allows the rest of the protein disease’s devastating effects, muscle protein, the dystrophin to be made,” he says. The resul- protein, is not working properly tant protein is foreshortened but it writes Dick Ahlstrom. due to mutation. is able to carry out at least some of its functions. In effect it per- RESEARCHERS AT NUI Maynooth have helped to confirm The most common and unfortu- forms as it does in the less severe the effectiveness of a promising nately life-threatening form is Becker’s form of the disease. “It new treatment for muscular dys- Duchenne Muscular Dystrophy, transforms a really severe muscu- trophy. They showed that the ex- explains Ohlendieck, head of NUI lar dystrophy to a manageable perimental gene therapy actually Maynooth’s department of biol- form,” he says. reverses some of the secondary ogy, and a Science Foundation damage caused by the life- Ireland principal investigator. It The unanswered question however threatening disease. typically sees the child forced to was whether this change also al- use a wheelchair by the age of 10 tered the way that other muscle The findings, just published in the or 12 and these patients seldom proteins performed. There are on-line version of the journal Pro- live beyond their mid-20s. A re- many secondary effects if the dys- teomics, are particularly important lated but much less dangerous trophin protein does not work. for Ireland. form is Becker’s Muscular Dys- trophy. Here the dystrophin pro- Ohlendieck met Wilton at a con- The progressive muscle wasting tein is shortened but is partly ference and they agreed to col- disorder is our most common gen- functional and the person usually laborate in important follow-up der-specific inherited disease. It survives into old age, he says. research. “What we have done is affects about one in 3,500 boys Wilton’s therapy involves using gone to the next step and looked at here and depending on the type, is “anti-sense probes” to silence how all the secondary muscle pro- almost always fatal, shortening small parts of the dystrophin pro- teins are affected by the treatment. life expectancy to about 20 years. tein, the elements that render the We did it using proteomics, look- protein wholly inoperable. It does ing at thousands of muscle pro- The research was a collaboration this by intervening in the stage teins.” involving Prof Kay Ohlendieck just before formation of the pro- and Dr Philip Doran at Maynooth tein when the code for producing An analysis using cultured muscle and Prof Steve Wilton and Dr Sue it is still in its “messenger RNA” tissue showed that once the par- Page 2 MDI Newsletter - Issue 41 = Spring 2009 tially functional dystrophin was available the secondary downstream changes were reversed. “It is not fully functional but it is IInntteerrnnaattiioonnaall RRaarree good enough to reverse all the secondary abnormalities,” he says. DDiisseeaassee DDaayy This gives additional momentum to the use of the approach to treat the disease in hu- International Rare Disease Day took place on Saturday 28th February mans. Clinical trials are already under way 2009, and as all forms of muscular dystrophy are rare, MDI took part in the US and UK with results expected by in some events during the week leading up to the day itself to mark 2010, he says. Their work, funded by Mus- this occasion. To launch the week, MDI member Josh Dillon from cular Dystrophy Ireland, the Health Re- Dublin, attended a photoshoot with Alison Hyland who has Epider- search Board and Science Foundation Ire- molysis Bullosa (EB) and Joan Brosnan Walsh, who played Mags in land, provides important additional bio- Fair City and has been diagnosed with motor neurone disease. Thanks chemical proof that the exon skipping ther- Josh, the photos were great! (see bottom left). apy is good enough to reverse pathological changes in related downstream proteins. Three organisations, the Genetic and Rare Disorders Organisation (GRDO), the Irish Platform for Patient Organisations, Science and Ohlendieck views the work as “very en- Industry (IPPOSI) and the Medical Research Charities Group couraging”. “We now know that this ap- (MRCG) joined together to hold a conference on Wednesday 25th proach is the right one and most likely to February, “Focus on Rare Diseases in Ireland: What is the National achieve results for sufferers. It offers a real Plan?”. This meeting gave an insight into the difficulties faced by hope for a reversal of the devastating ef- people with rare conditions in Ireland, regarding information, diagno- fects of muscular dystrophy.” sis and treatment, and stressed the need for a national plan to be de- veloped to address these difficulties. An exon skipping clinical trial is cur- On Rare Disease Day itself, Saturday 28th February, GRDO held a rently in progress in the UK. This trial is successful family day in the Mansion House in Dublin. The Lord currently testing systemic / intravenous Mayor of Dublin, Councillor Eibhlin Byrne hosted the event, while delivery of the “molecular patch”. For Senator Deirdre de Burca launched “The Voice of 12,000 Patients”, a more information, please visit the new new publication from EURORDIS, the European Rare Disorders Or- M D E X C o n s o r t i u m w e b s i t e : ganisation. This book presents the findings from surveys on the ex- www.mdex.org.uk. perience and expectations of 12,000 people across Europe with a se- lection of rare conditions, including Duchenne muscular dystrophy, Joan Brosnan Walsh, who regarding access to diagnosis and health services. played Mags in Fair City with Josh Dillon and Alison Hyland Rare Disease Day is going from strength to strength, so keep watch th at a photoshoot to launch Rare for events next year on 28 February 2010. Disease Week activities. Hubert McCormack, Karen Pickering and Judy Windle at the Information Day in the Mansion House, Dublin. Page 3 MDI Newsletter - Issue 41 = Spring 2009 Disability Factsheets The Citizens Information Board (CIB) publishes a wide range of factsheets to ensure that the public has access to accurate, up to date and comprehensive information on rights and entitlements.
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