Rare Disease Day 2018

Rare Disease Day 2018 took place on 28 February – the theme this year was ‘Show your rare’ with people around the world painting their face to show their support for those living with rare diseases. You can read an overview of Rare Disease Day 2018 and view the Rare Disease Day 2018 video below.

Blue for the Cure

The 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 by asking people to wear the colour blue and post a photo on Facebook.

Photos were shared by those affected by centronuclear and myotubular myopathy, their family and friends around the world. A selection of photos from the day can be seen below and on the Blue for a Cure 2018 Facebook event page.

A visit to the Beggs Lab

Will Ward’s birthday falls on Rare Disease Day and this year The Ward family paid a visit to the lab of Alan Beggs, PhD to learn more about MTM research – Dr Beggs, Director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital, has known Will since he was a newborn in intensive care.

The hospital recorded the visit for their Snapchat channel which took viewers on a tour around the lab, showing a freezer filled with muscle samples stored in liquid nitrogen; muscle tissue under a microscope; gene sequencing to identify mutations causing MTM and other congenital myopathies and a testing station to measure muscle function in samples taken from animal models. You can learn more about the visit and see the video below.

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