European Family Conference, London 9th & 10th July 2011

The Myotubular Trust's second European Myotubular and Centronuclear Myopathy family conference was held on Saturday 9th and Sunday 10th July 2011 in London, UK. You can view the Agenda for the day here.

Notes from the meeting will be posted here as soon as they become available, so please keep checking back for new information.

The Scientific Research Presentations

Dr McEntegart


Opening and Welcome:

Co-hosted by:

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.



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:



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.


Gene Therapy:

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


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.

The Therapy Workshops



Genetics Counselling, Reproductive Options for Women Carriers of Myotubular Myopathy

Presented by Dr Meriel McEntegert


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


Snapshots of the Day


More photos from the day:




Running Order of the Day

0915-1015 Registration and coffee

1015-1030 Opening and welcome
Professor Francesco Muntoni, Head of the Dubowitz Neuromuscular Centre at Great Ormond Street Hospital

1030-1245 Morning session
We have an outstanding panel of researchers who will be presenting their findings from their recent research including:

- Professor Victor Dubowitz, Emeritus Professor at Imperial College and President of World Muscle Society
- Dr Heinz Jungbluth, Consultant Paediatric Neurologist, Neuromuscular Service at Evelina Children's Hospital,   Guy's and St. Thomas's London
- Dr Anita Simonds, Consultant in Respiratory Medicine, Brompton Hospital, London
- Dr. Johann Böhm, Post Doctoral Research Fellow, IGBMC, France
- Dr Manuela D'Alessandro, University of Strasborg, France
- Dr Anna Buj Bello, INSERM Researcher at Généthon, Evry, France
- Dr Meriel McEntagart, Consultant Clinical Geneticist, St. George's Hospital, London

1245 – 1415 Lunch
During lunch you will have the opportunity to mingle with the researchers and other families.

1415- 1745 Afternoon session
We will hold a series of therapeutic workshops. Topics covered will include advice on ventilatory care; physiotherapy and exercises; genetic counseling; care for the whole family; activities, holidays, and equipment advice.

1800 – 1930 Buffet dinner
Dinner will be served at the conference venue

Thanks to our Sponsors

This day was made possible by our many Sponsors. We are immensely grateful to Capgemini Consultants for the use of the ASE conference facilities and the support from the wonderful team who helped to organise the Myotubular Trust Family Conference before, during and after the big day.

A very particular huge thank you to John Watt of Pyramid Catering who donated all the delicious food, drinks, snacks and general refreshments to everyone at the Conference.  You are so kind.


Some Comments About The Day

How come I don't feel so alone any more? Simple - I met so many wonderful professionals, families and friends yesterday at the Myotubular Trust European Conference in London.

I already felt privileged to be a carer. Yesterdays conference reaffirmed why I am passionate about the delivery of care, in the [caring] team I am part of.

The day was brilliant & informative.

A brilliant day from start to finish. Just spending time with other people who know and understand what we are going through or have been through is very comforting and makes us feel less alone.

I cannot tell you how amazing Saturday was you all did such a fantastic job! We found it so informative and just to see what is actually going on research wise is amazing.

Saturday was an amazing day for all of us, especially for our little boy who enjoyed all the attention given to him. And seeing all the inspiring families.

We thoroughly enjoyed meeting up with everyone again and of course listening to what the docs had to say.  It must be really satisfying for you to hear whats happening with the grants you gave out and how their research is progressing - everything was just perfect!!

As usual we found it very informative. It is always a comfort to be in the company of others who truly understand what you have been through and have a common bond to beat this. It was encouraging to hear all the positive feedback from the researchers working on our behalf.  

I just loved, loved, loved being with you guys. Being with other families was great to share tips and ideas. It was great to talk to researchers directly. The presentations were excellent and the facilities were amazing. It was great to have a private conversation with someone the ventilatory expert from the Brompton – great to have a fresh set of ears to bounce ideas off.

Thank you again guys, you keep us strong.