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NEWS & UPDATES

Family Conference 2018


We are delighted to invite all those affected by myotubular and centronuclear myopathies, their families, doctors and carers to our family conference. As in 2016, the conference will be hosted jointly by the Myotubular Trust and ZNM – Zusammen Stark! (CNM – Together Strong!)


Outline programme:

 


Friday, July 13th:

Informal get-together as and when people arrive.


Saturday, July 14th 9am – 1pm

Conference Programme

The Conference, chaired by Professor Francesco Muntoni, will be presented in both German and English. Scientific presentations will include:

Professor Francesco Muntoni
Head of the Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, and Great Ormond Street Hospital
“Overview of progress made, and lessons learnt in other neuromuscular diseases”

Dr Ana Buj-Bello 
Genethon, France
“Gene therapy development”

Dr Belinda Cowling
Department of Translational Medicine and Neurogenetics, I.G.B.M.C, France
“DNM2 downregulation as a potential treatment for a number of centronuclear myopathies”

Dr Johann Bohm
Department of Translational Medicine and Neurogenetics, I.G.B.M.C, France
“Genes, and the genetic background of centronuclear myopathy”

Professor Mathias Gautel
Chair of Molecular Cardiology, and Head of School of Basic and Medical Biosciences, King’s College, London, and
Professor Heinz Jungbluth 

Professor and Consultant in Paediatric Neurology, Children’s Neuroscience Centre, St Thomas’ Hospital, London
“RYR1 and TTN – the challenge of giant genes implicated in centronuclear myopathy”

Dr James Dowling
Clinician, Hospital for Sick Children, Toronto, and Assistant Professor, Departments of Paediatrics and Molecular Genetics, University of Toronto
“Drug Repurposing for myotubular myopathy”

Professor Anita Simonds
Professor of Respiratory & Sleep Medicine, National Heart & Lung Institute and Respiratory Consultant at Royal Brompton & Harefield Hospital, London
“Latest international standards of ventilatory choices in NMD”

Dr Carsten Bonnemann 
Senior Investigator, Neurogenetics Branch, Chief, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Health (NIH), Maryland
“Study design and burden on families in clinical trials for ultra rare diseases”


Saturday 14th 2pm-6pm & Sunday, July 15th 9am–12 noon

Presentations from industry:

Audentes Therapeutics  : an update on the ASPIRO gene therapy clinical trial
Dynacure : an update on DNM2 antisense oglionucleotide clinical trial programme development

Workshops including:

• Genetic background, options and counselling
• Living with long term ventilation and latest in airway clearance standards for NMD
• Psychological support for the whole family
• Wheelchairs and postural support advice
• Travelling and holidays
• Independent living
• Fundraising for research
• Nutrition and blended foods


Registration for the Conference:

If you have any questions about registration please email contact@myotubulartrust.org


Venue:

Holiday Inn, Bloomsbury Coram Street, London WC1N 1HT – this hotel is a few streets away from the world renowned Great Ormond Street Hospital for Children

To avail of the discounted rate for the event, please use group code KUH. Rooms including breakfast cost £168 per night plus £10 supplement per person for multiple room occupancy. You can book online, through the central reservations on 0800 40 50 60 or in house reservations on 0207 923 4005. The cut off date for booking rooms is 15th June.

If you are interested in attending the conference, but are concerned that for financial reasons you may not be able to join us, please contact us.

Costs:

Attendance at the conference, including lunch and dinner, is free for those affected by myotubular and centronuclear myopathy, their families and carers. However, you will be responsible for your own accommodation costs.

Other guests are welcome to attend the conference for the net cost of £100 per person per day including lunch, dinner and coffee breaks. Accommodation is at your own expense.

Between now and the conference, the organising team will be working hard at fundraising to pay for this event. If you can help in any way or have any ideas, we would be immensely grateful and would love to hear from you.

Children’s Programme:

There will be a full children’s programme for different age ranges, designed, managed and staffed by professional and experienced child care providers.

Please watch the Myotubular Trust and ZNM – Zusammen Stark e.V. (CNM – Together Strong!) websites for further updates and information.

Conference Languages:

As mentioned above, the family conference will be simultaneously translated from English to German and vice versa. If you do not speak English or German, but would still like to attend the conference, please contact Jennifer Bilbao – Jennifer.bilbao@znm-zusammenstark.org


Sunday 15th July 2018 : Fundraising Option

The Virgin Sport Westminster London 10K

An alternative for Sunday morning and an opportunity do some fundraising. Why not join the iconic London 10K run?

Many of our community have taken part in this popular run over the years, along with friends and family. It’s a fantastic event. Please let us know if you register so that we can send you a Myotubular Trust t-shirt.


Thank you

Thank you to all those sponsors, grant making Trusts and Foundations, and equipment manufacturers who have helped finance this conference.

Kindness for Kids was founded in 2003 with the goal to improve the situation of children with rare diseases. Kindness for Kids’ approach is two-fold: at a social as well as at a scientific level. Socially, the foundation organizes and funds holiday camps with medical assistance for affected children and vacations assisted by therapists for the whole family. Scientifically, the foundation commits itself in the research funding field with a focus on health care.

The Boshier-Hinton Foundation exists to improve quality of life for people with disabilities, learning difficulties or sensory impairement and their families, by the awarding of grants.

Breas provide innovative solutions that enable people with chronic respiratory conditions to live life to the fullest.

 

Our thanks also to Cynthia Dickenson Charitable Trust.

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