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Newsletter for the centronuclear and myotubular myopathy community

Issue 2/2019

Audentes logo.

Audentes news

New positive clinical trial data and an opportunity for US patients and caregivers to share their experience of living with x linked myotubular myopathy. 

Read more: Audentes news

Emi

RECENSUS study

The second RECENSUS manuscript entitled 'Mortality and Respiratory Support in x-linked myotubular myopathy' was recently published online. Kimberly Trant, Senior Director of Patient Advocacy and Engagement at Audentes Therapeutics writes about the study.

Read more: RECENSUS study

Dynacure logo.


Dynacure news

Clinical trials, a research grant, orphan drug designation and the Prix Scientifiques awarded to Belinda Cowling for research publications and success in academic/industrial partnerships.

Read more: Dynacure news

 

Opening of new laboratories.

Dynacure: Official opening of new laboratories

Dynacure recently opened new offices in Strasbourg to house their research and development activities. Marion Depla a research scientist at Dynacure writes about the event.

Read more: Dynacure: official opening of new laboratories

Allison

Graduate researcher

Allison Welter recently featured in a short film about the Graduate Research Programme (GREP) at the Mayo Clinic Graduate School of Biomedical Sciences. Learn more about Allison and view the film here.

Read more: Graduate researcher

Baroness Blackwood

National conversation on rare diseases

The National conversation on rare diseases is seeking input from the rare disease community across the UK, including patients, families and carers, rare disease medical professionals and GPs, clinical academics and industry experts. Learn how to get involved here.

Read more: National conversation on rare diseases

Action for Access logo.

Action for Access

Genetic Alliance UK recently launched the Action for Access campaign with the aim of improving the assessment process for rare disease medicines. Wendy Hughes attended the event on behalf of the Myotubular Trust and writes about the event here.

Read more: Action for Access

Yellow sunflower.

The Big Sunflower Project

2019 was the ninth year of The Big Sunflower Project. Over 300 packets of seeds were sent across the UK and to Europe to raise awareness of centronuclear and myotubular myopathy. In 2020 the project will grow sunflowers for the tenth time. 

Read more: The Big Sunflower Project

Easyfundraising logo

Easyfundraising

The Myotubular Trust Easyfundraising eStore raises donations for the charity everytime a purchase is made.  With Christmas fast approaching we asked why the donations are so important.

Read more: Easyfundraising

MTM-CNM Family Conference attendees.

A decade of connections: US MTM-CNM Family Conference

This year the US MTM-CNM Family Connection hosted their sixth biennial family conference. In this issue of Our World they write about the event.

Read more: A decade of connections

Attendees at European family conference.

2020 European family conference

The next European centronuclear and myotubular family conference will take place in Bad Nauheim, near Frankfurt. Read about the event here.

Read more: 2020 European family conference

Hope Walk 2019.

Myotubular Trust 2020 fundraising events

Myotubular Trust have places on offer in several fundraising events in 2020. Learn more here.

Read more: Myotubular Trust 2020 fundraising events

Fundraising for Rub?n.

Fundraising for Rubén

Rubén is one year old and diagnosed with myotubular myopathy. Earlier this year his mum Siân held a hugely successful fundraising event for Myotubular Trust.


Read more: Fundraising for Rubén

 

Daniele

A new star is born in Italy

A new patient organisation has recently been established in Italy. Daniele Olivier writes about his reasons for starting the organisation and what he hopes it will achieve in the future.

Read more: A new star is born in Italy

Kyle in kayak.

Kyle kayaks

Betsy Grant, who lives in the rural State of Vermont in the USA writes about her son Kyle, who is diagnosed with myotubular myopathy and  has recenty been enjoying adaptive kayaking.

Read more: Kyle kayaks

Kim

I.Lead

Kim lives in New Zealand and is diagnosed with autosomal dominant centronuclear myopathy. She recently traveled to the New Zealand Parliament building, to be part of leading New Zealand’s first youth with disabilities conference.

Read more: I.Lead

Gordon W. Evans Art Leadership Award

Connie Bonfy lives in Kansas, USA and is diagnosed as an x-linked manifesting carrier of myotubular myopathy. She was recently awarded the Gordon W.Evans Art Leadership Award at Wichita's Arts Council 50th Annual Art Awards.

Read more: Gordon W. Evans Leadership Award

Andy and team captains.

The power of four

Andy from Farmington, Minnesota recently had the opportunity to be an honorary captain and flag bearer, leading the Farmington High school team onto the field ahead to the teams home opener. His mum Amy writes about the event.

Read more: The power of four

Milosz in glider.

Milosz's flying experience

Milosz from Market Harborough recently had the opportunity to fly a glider. His mum Monika writes about Milosz's flying experience.

Read more: Milosz's flying experience

 
 

 

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