Dr McEntegart

Opening and Welcome:

• Professor Francesco Muntoni, Head of the Dubowitz Neuromuscular Centre at Great Ormond Street Hospital and
• Dr Meriel McEntegart Consultant Clinical Geneticist, St. George's Hospital, London.

Our Scientific Advisor, Professor Muntoni, has recently had a major scientific breakthrough using a 'scalpel' to remove the damage and restore dystrophin production in patients with another neuromuscular condition: Duchenne Muscular Dystrophy. (See BBC News Article ).

Professor Muntoni

History of the Myotubular Myopathies:

Professor Victor Dubowitz, Emeritus Professor at Imperial College and President of the World Muscle Society, on the history of myotubular myopathies from Drs Spiro and Sher in the 1960s to the discovery of the x-linked gene by Dr Jocelyn Laporte in 1996.

• A Lay Summary of the History of the Myotubular Myopathies.

Latest Genetic Developments :

Dr Heinz Jungbluth, Consultant Paediatric Neurologist, Neuromuscular Service at Evelina Children's Hospital, Guy's and St. Thomas' London, on the most recent genetic developments - particularly the discovery of links between mutations in the skeletal muscle ryanodine receptor (RYR1) gene and centronuclear and other congenital myopathies.

• Dr Jungbluth's Research Abstract (PDF)

New Genes Implicated:

Dr Johann Böhm, Post Doctoral Research Fellow, IGBMC, France presented on the identification of new genes that cause the myotubular and centronuclear myopathies using next generation genome sequencing:

• Dr Böhm's Presentation (PDF)
• Dr Böhm's Presentation: Accompanying Notes
• A Lay Summary of the new Myotubular Trust funded grant at IGBMC to identify new genes

Improving our Understanding:

Dr Manuela D'Alessandro, Post Doctoral Research Fellow, IGBMC and University of Strasborg, France on the improving understanding of the pathogenesis of mtm/cnm and the understanding of the link between the genes currently implicated in mtm/cnm.

• Dr D'Alessandro's Lay Summary of the Presentation
• A Lay Summary of the Fellowship funded by Myotubular Trust for Dr D'Alessandro to carry out this research (PDF)

Gene Therapy:

Dr Anna Buj Bello, INSERM Researcher at Genethon, Evry, France on the hugely promising work on gene therapy in myotubular myopathy

• Dr Buj Bello's Lay Summary of the Presentation
• Dr Buj Bello's Research Project, funded by the Myotubular Trust
• Wake Forest/Genethon collaboration

Latest Respiratory Advice:

Dr Anita Simonds, Consultant in Respiratory Medicine, Royal Brompton & Harefield Hospital, London presented on the latest advice for respiratory care in our neuromuscular patients.

• Presentation: Breathing Problems and How to Get On Top Of Them (PDF)

Genetics Counselling, Reproductive Options for Women Carriers of Myotubular Myopathy

Presented by Dr Meriel McEntegert

• X-Linked Myotubular Myopathy (PDF)
• CVS (PDF)
• Free Fetal DNA (PDF)

The First Two Years.
Your baby's whole development from the perspective of a Senior Physiotherapist

Presented by Hiliary Rattue

Airway Clearance.
Beyond the Basics for Two Years Old +

Presented by Michelle Chatwin

Living Life To The Full.
Professional advice on equipment, activities, holidays ....and much more

Presented by Occupational Therapists, Rosie North and Vicky Hefford

• Charitable Grant Funding
• Useful Websites

More photos from the day: