Our World The Information Point for Centronuclear and Myotubular Myopathy

Newsletter for the
Centronuclear and myotubular myopathy community



Issue 1: 2017


  Sunflower

The Big Sunflower Project

2017 is the seventh year of The Big Sunflower Project and this year participants include schools, community groups and charities, as well as those affected by centronuclear and myotubular myopathy.


More about The Big Sunflower Project

     
  Andy and Allie

Stories from our world

Stories from Our World have recently been archived on new websites as a resource for both affected families and those whose work may involve people with centronuclear or myotubular myopathy.

More about stories from our world

     
  Information Point signpost logo

Picture perfect

Have you ever wondered about the illustrations that appear on our websites? They are the work of artist Rebecca J Kent and you can read more about them here.

More about picture perfect

     
  Anthony with family and friends

Sixteen candles

2017 marks the 16th birthday of The Information Point. Anthony and Mason both diagnosed with myotubular myopathy also celebrated their 16th birthdays this year. Our World spoke to Mason's mum Staceyanne and Anthony's mum Tina about their boys turning 16.

More about sixteen candles


     
  Laboratory

Research news

In this issue of Our World, we report on two pieces of research news - the identification of a novel gene, named CACNA1S and the ongoing development of a potential therapy.

More about research news

     
  Wendy Hughes and Jim Dowling.

An interview with Jim Dowling

On a recent trip to Canada, one of the founders of the Myotubular Trust, took the opportunity to interview Dr Jim Dowling about his work funded by the Myotubular Trust.

More about an interview with Jim Dowling



     
  Bank of England logo.

Bank of England charity of the year

In 2016 The Myotubular Trust was chosen to be one of the Bank of England's charities of the year. Find out how much money was raised and what it will be used for.


More about the Bank of England

     
  Participants at the London Hope Walk 2017

London Hope Walk

The 2017 London Hope Walk took place on 20 May 2017. Once again the walk took in 10 of London's iconic bridges.

More about London Hope Walk

     
  Patient Registry logo.

 

An update on the Myotubular and Centronuclear Myopathy (MTM and CNM) Patient Registry

Being part of a patient registry, provides crucial data to those working to improve understanding of a condition and developing treatments. Jo Bullivant, provides an update on the Myotubular and Centronuclear Myopathy Patient Registry.

More about the Myotubular and Centronuclear Myopathy Patient Registry

 

     
  Attendees and German Annual General Meeting and Family Conference

German Annual General Meeting and Family Conference

The Annual General Meeting and Family Conference of the German association ZNM - Zusammen Stark! took place over the weekend of 5 - 7 May 2017. Holger Fischer writes about the event.

More about the German family meeting and conference

     
  Matheus and his cousins.

 

Rare Disease Day and Blue for the Cure

Rare Disease Day 2017 took place on 28 February and US charity Where There's a Will There's a Cure once again held their Blue for the Cure event to raise awareness of centronuclear and myotubular myopathy.


More about Rare Disease Day and Blue for the Cure

 

     
  2017 MTM-CNM Family Conference image.

US Family Conference

The fifth biennial US MTM-CNM Family Conference will take place in July in Nashville, Tennessee. This year the conference organisers are inviting you to 'Get Your Boots On', whether yours are dusty cowboy boots, work boots, AFOs, or even rugged wheels on a chair.

More about US Family Conference

     
  William's team.

William's Team

In June, Will Ward led his ninth walk team for the Beggs Lab at Boston Children's Hospital Eversource Walk for Kids. Will's mother Erin writes about the event.

More about William's Team

     
  Mike and Jackson

Profile of the RYR-1 organisation

Mutations in the RYR-1 gene are known to cause multiple types of muscle cell abnormalities, one of which is centronuclear myopathy. The Information Point spoke with Rachel Bronstein, herself diagnosed with centronuclear myopathy caused by a mutation in the RYR-1 gene, to learn more about their work. .

More about the Profile of the RYR-1 organisation

     
  Mark and Will

 

Shave or save

Mark Ward, one of the directors of MTM-CNM Family Connection Inc, has been conducting a rather 'hairy' fundraising campaign for the 2017 MTM-CNM Family Conference. Mark writes about his inspiration and how you can get involved.


More about shave or save

 

     
  Emil

Sunflowers for Emil

This year people have taken part in The Big Sunflower project from more countries than ever - many of them growing sunflowers in memory of Emil who had myotubular myopathy. Jen Bilbao writes about remembering Emil.


More about sunflowers for Emil

     
         
 
 
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