Join Our Boys Trust Conference

Duchenne Muscular Dystrophy – Finding Solutions in Ireland
June 24th 2015 Croke Park Conference Centre, Dublin 1.

8.00 – 9.00 Registration. Tea/Coffee.
9.00 Welcome: Mr Padraic Naughton, Join Our Boys Trust.
9.15 Opening Address
9.30 Morning Session: Chair: Dr. Anne. Jeffers.
9.30 A parent’s perspective. Ms Paula Naughton, Join Our Boys Trust.
10.00 Microdystrophin Gene Therapy for Duchenne Muscular Dystrophy. Professor George Dickson, Royal Holloway Hospital, University of London.
10.45 Tea/Coffee Break.
11.15 Developing Trial Ready Services for Duchenne Muscular Dystrophy. Professor Kate Bushby, Newcastle University. U.K.
12. 00 Managing Respiratory Illnesses in Children with Duchenne Muscular Dystrophy Dr. Patrick Murphy, Guys and St. Thomas’s NHS Trust, London
12.45 L U N C H
2.00 Afternoon Session Chair: Professor Orla Hardiman.
2.00 Rowing for Research. Dr. Elin Haf Davies, London.
2.35 The modulation of utrophin for the therapy of DMD. Professor Dame Kay Davies, Oxford University. UK.
3.10 Developing a single site paediatric neuromuscular service in Ireland: aspirations and challenges’ Dr. Denise McDonald, Children’s University Hospital, Tallaght, Dublin.
3.50 The Management of Rare Diseases in Ireland, Current and Future Prospects. Professor Eileen Treacy, Childrens University Hospital. Temple Street, Dublin
4.30 Concluding Remarks – Together we can get there. Professor Peter Nolan, UK.
5.00 Tea/ Coffee and networking.


Professor Kate Bushby
Professor Kate Bushby, MD FRCP is a Professor of Neuromuscular Genetics. She is a clinical academic with joint appointments between Newcastle University and the NHS. The Newcastle University John Walton Centre for Muscular Dystrophy Research within the Institute of Genetic Medicine is a partner in the MRC Centre for Neuromuscular Diseases, of which Prof Bushby is Deputy Director.
Professor Bushby has a long-standing interest in inherited neuromuscular diseases, especially Duchenne muscular dystrophy and the molecular genetics of the limb-girdle muscular dystrophies and related disorders. She has also been leading on the best possible development, dissemination and implementation of care guidelines as well as clinical trials. The 70 strong muscle team at Newcastle has developed an extensive programme of research in NMD from basic molecular pathology to clinical studies.
Professor Bushby was one of the founding co-ordinators of the TREAT-NMD Network of Excellence and remains a member of its scientific secretariat. She is a member of the European Expert Group on Rare Diseases and leads the Joint Action supporting this group. She is Impact work package leader in RD Connect and International PI on the NIH funded international study of steroid use in DMD and the Jain foundation study of clinical outcome measures in dysferlinopathy as well as an investigator in several industry sponsored clinical trials in DMD.

Professor Dame Kay Davies:
Professor Dame Kay Davies is the Dr Lee’s Professor of Anatomy in the Department of Physiology, Anatomy and Genetics and Director of the MRC Functional Genomics Unit at the University of Oxford. She has worked on the molecular analysis and development of treatment for Duchenne muscular dystrophy (DMD) for more than 25 years. She is co-founder of a company to deliver utrophin modulation to the clinic for DMD which currently has a drug in Phase 1 trials. She has published more than 400 papers and won numerous awards for her work. She is a founding fellow of the UK Academy of Medical Sciences and was elected a Fellow of the Royal Society in 2003. She has been a Governor of the Wellcome Trust since 2008 and became Deputy Chairman in October, 2013. She was made Dame Commander of the British Empire for services to science in 2008.

Professor George Dickson:
George Dickson is Professor of Molecular Cell Biology at Royal Holloway – University of London (RHUL), based in Egham, Surrey. He has spent most of his career studying neuromuscular disease and muscle cell biology, including the first cloning of an intact dystrophin gene, the discovery of the role of cell adhesion molecules in muscle stem cell fusion, the first identification of utrophin, and the first description of exon skipping in Duchenne muscular dystrophy (DMD). Professor Dickson has also conducted notable research into gene therapy for DMD.  He is a member of the UK MDEX Consortium, the EU-SKIP-NMD Project, and has been a platform leader in the EU Clinigene Network of Excellence. He is a past President of the European Society of Gene & Cell Therapy, and a past Secretary and founder member of the British Society for Gene Therapy. He has been a member of the European Medicine Agency Committee for Advanced Therapeutics (Gene and Cell Therapies). Present research has been supported by EU, Muscular Dystrophy Charities, Welcome Trust, UK Department of Health, Bill & Melinda Gates Foundation, and industry partners like Wyeth, Sarepta, Benitec, and Pfizer, and includes: (i) Optimisation of exon-skipping and antisense oligonucleotide formulations for DMD, (ii) Inhibition of myostatin by RNA skipping and gene therapy for DMD, (iii) Development of dystrophin minigenes and AAV viral vectors for gene therapy treatment of DMD, (iv) Direct genome correction of DMD using endonuclease-mediated genome surgery.

Dr. Elin Haf Davies:
Elin began her career as a Paediatric Nurse at Great Ormond Street Children’s Hospital in London before going on to gain a PhD from University College London. After nine year of clinical and research experience Elin moved to work at the European Medicine Agency Paediatric Team where, amongst other projects she evaluated over a 100 Paediatric Investigation Plans that include drug trials in children. After six years Elin left to work independently: Empowering Children | Enabling Research.
In her free time Elin has a passion for extreme adventure to raise money for charities close to her heart. In 2007-2008 she rowed across the 2600 miles across the Atlantic Ocean, raising £190,000 for metabolic research at Great Ormond Street Hospital. Money that funded a PhD project that identified the value of Vitamin B6 for managing neonatal seizures, an area that Elin is now actively supporting in her professional capacity. In 2009 Elin was part of the first all female crew to ever row across the Indian Ocean. In 2012 Elin completed her hat-trick of oceans by sailing 6000 miles across the north Pacific. Elin’s adventures over the years have raised over £250,000 for charities. She has been acknowledged by the Welsh Assembly for Services to Wales, and published an honest and gritty account of her experiences “On Tempestuous Seas”.

Professor Orla Hardiman:
Orla Hardiman is an Irish Consultant Neurologist. She was appointed as the first full professor of Neurology in Ireland by Trinity College University of Dublin in 2014, where she heads the Academic Unit of Neurology, housed in Trinity Biomedical Sciences Institute. She is a HRB Clinician Scientist and Consultant Neurologist at the National Neuroscience Centre of Ireland at Beaumont Hospital, Dublin. She leads a team of 30 researchers focussing on clinical and translational aspects of amyotrophic lateral sclerosis and related neurodegenerations. Hardiman has become a prominent advocate for neurological patients in Ireland, and for patients within the Irish health system generally. She is co-founder of the Neurological Alliance of Ireland and Doctor Alliance for Better Public Healthcare. In the past she established the annual Diaspora Meeting, a forum for Irish Neurologists based overseas to present and discuss their research findings with neurologists working in Ireland.

Dr. Anne Jeffers:
Anne Jeffers has worked as a Consultant Psychiatrist until her retirement from the HSE in 2013. She is currently working in private business and is a volunteer with the Join Our Boys Trust. She heads up the Research working group within Join Our Boys, this is a group dedicated to improving the standards of care and the access to effective treatments for all children with Duchenne Muscular Dystrophy.

Dr. Denise McDonald.
Denise McDonald is a consultant in paediatric neurodisability in Tallaght hospital, Enable Ireland and the Kildare motor management service. She trained in neurodisability in the UK and completed an MD thesis on the aetiology of neonatal encephalopathy in Dublin (RCSI).
Dr McDonald’s interest in neuromuscular disorders in particular has developed through her pursuit of an improved service to young people attending her own service in the first instance, which lead to the establishment of the Paediatric neuromuscular clinic in Tallaght hospital. There followed a broader ambition of developing a National service, the proposal for which has been presented to the department of health and the HSE.

Dr Patrick Murphy: Guy’s and St. Thomas’s NHS Trust, London.
Dr Patrick Murphy graduated from St Bartholomew’s and the Royal London School of Medicine in 2002 and continued his medical training in London apart from a period of intensive care training in Sydney, Australia. He completed a PhD in respiratory physiology with the London Respiratory Muscle Group and his current research interests include domiciliary ventilation; in particular novel modes of ventilation and strategies for improved non-invasive ventilation setup. He has authored publications in leading international respiratory journals on both respiratory physiology and home non-invasive ventilation.  He has presented primary research data at national and international conferences and has been awarded symposium prizes by both European Respiratory Society and American Thoracic Society.  He was appointed as a Consultant Respiratory Physician at the Lane Fox Unit in 2014 with a major part of his role involving the provision of respiratory services to patients with complex neuromuscular disease including assisting with the transition from paediatric to adult respiratory services.  The Lane Fox Unit cares for over 1200 patients with chronic respiratory failure requiring home ventilation in the UK including 120 patients with Duchene Muscular Dystrophy.
Padraic Naughton and Paula Naughton.

Padraic Naughton has worked as a general and mental health nurse for over twenty five years and is currently a community mental health nurse with the Roscommon mental health service.
Paula Naughton has over twenty five years experience as a general and mental health nurse and is currently Nurse Practice Development Coordinator in the Galway Roscommon mental health service. They have both worked in the UK and Ireland. In November 2012, Paula and her husband Padraic were informed that their only three children, Archie, George and Isaac, have Duchenne Muscular Dystophy. In March 2014, they established The Join Our Boys Trust. The aim of the trust is to raise funds for the Naughton children and also to raise awareness of Duchenne Muscular Dystrophy, with a view to ensuring all Irish children can avail of treatments and services that are available in other countries. Paula and Padraic have spoken to many national groups about their personal experience and their determination to do everything they can to advance a cure in Duchenne Muscular Dystrophy. They believe strongly that it is by increasing awareness of DMD and its devastating consequences that we will bring about an effective treatment and solutions for the families affected by this disease. Politicians, clinicians and society need to hear and understand their message.
Professor Peter Nolan

Peter Nolan was born in Roscommon. On leaving a religious order in the early 1960s, he went from Dublin to London to undertake general and psychiatric nurse training. He subsequently worked in Libya in Occupational Health and as a radio reporter in Tripoli. On returning to the UK, he held posts at Broadmoor Special Hospital, the Peace Memorial Hospital in Watford, and West Park Hospital in Epsom, Surrey. He holds two first degrees in Educational Psychology and Philosophy, a Master’s degree for which he researched personality differences in health professionals, and a PhD examining the evolution of British mental health services. In recent years, he has studied resistance to change in clinical services and strategies to encourage members of the public to challenge medical and managerial elites. He has contributed regularly to academic and professional journals and has collaborated with research colleagues in many countries across the world. He is currently semi-retired and working on a project to improve co-operation between healthcare personnel in various disciplines, health and social care agencies and the general public.

During his career, Peter’s aspiration has always been to encourage research findings to be implemented in practice. Health care has produced abundant research but it is a matter of serious concern that so little is put into practice. Competent, informed and compassionate health professionals, and far-sighted managers, all tapping into the good will of the public and of politicians can make things happen. During the course of his working life, while playing a part in improving services for people with mental health problems and their families, Peter has been convinced of the power of the individual and collective human spirit to confront and overcome adversity. Where there is a cause worth fighting for, a will to make a difference, and a supportive context in which to do it, positive outcomes can be achieved.
Professor Eileen Treacy:

Prof. Eileen Treacy, MD, FRCPI, FRCPC, ECCMG, is a consultant (adult and paediatric) at The National Centre for Inherited Metabolic Disorders, Childrens University Hospital, and Mater Misericordiae University Hospital, currently registered in Clinical Genetics and Paediatrics on the Medical Council Specialist Registry. Prof. Treacy was appointed as a Clinical Professor of Inborn Errors of Metabolism (Paediatrics) at University of Dublin in 2006 and was recently appointed also as a Clinical Professor at University College, Dublin (2014).
Prof. Treacy trained initially in Paediatrics and then Clinical and Biochemical Genetics (FCCMG programme), at McGill University, Montreal, Canada and then obtained a two year Canadian Samuel McLoughlin Travelling Fellowship scholarship with further training in Biochemical Genetics at the Murdoch Institute, Royal Children’s’ Hospital, Melbourne, Australia and Necker Enfants Malades Hospital, Paris. Before returning to Ireland, she was appointed as an Associate Professor in Paediatrics and Human Genetics at Montreal Children’s Hospital, McGill University, Montreal, Canada and was Director of the Charles Scriver Biochemical Genetics Unit at Montreal Children’s Hospital/McGill University.
Prof. Treacy has specific research interests in the diagnosis and treatment of rare genetic diseases. Currently she is the Co-Lead of the European Galactosaemia Clinical and Research Network and is Principal Investigator for a MRCG/HRB 2013-2016 and a HRB 2015-2017 Galactosaemia research awards. She has acted as the HSE clinical representative for the DoHC led Steering Group to develop proposals for the Irish National Rare Diseases Strategy and is the Clinical Lead for the HSE/RCPI National Rare Diseases Clinical Programme since December 2013.


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