Bite-Sized Duchenne Science
Action Duchenne is bringing research to your home!
Our Science Live Video Project will aims to empower you, your family, friends and care teams with accurate, reliable knowledge from the comfort of your home. It’s delivered in an accessible way in a format that’s easy to share.
Everyone can access the information they need, when they want to do it. When someone asks you about Duchenne, you can just send them a link to our videos. and they can find out for themselves.
Our mission is simple — to provide you with the knowledge you need in order to make informed decisions. We understand that navigating the world of science about Duchenne muscular dystrophy can be overwhelming, especially when facing the challenges of the condition itself.
That’s why Action Duchenne is committed to delivering complex science divided into bite-size pieces.
Science Live Videos will cover important and interesting topics that matter, including: facts about Duchenne, signs and symptoms, diagnosis, genetics, and much more. The video series will be released every week on Friday.
“Understanding the latest developments in science can bring hope and comfort to our Duchenne families. It has been truly inspiring to witness the major advances of recent years and by supporting further research we are helping push toward the next frontier“
Florence Boulton, CEO
Section 1 – Facts about Duchenne muscular dystrophy
We start by explaining the origin of the name Duchenne Muscular Dystrophy and go on such terms as Dystrophinopathies, and the significance of rare diseases. Dive into the epidemiology and prevalence of Duchenne Muscular Dystrophy with us, exploring its impact beyond just males, reaching even into the female population.
Read moreSection 2 – Signs and Symptoms of Duchenne muscular dystrophy
This section is dedicated to Signs and Symptoms of Duchenne Muscular Dystrophy. It covers a range of essential topics, including the hallmark signs that are indicative of Duchenne. We explain the Gowers Sign, a distinctive maneuver that is a distinctive sign in children living with Duchenne. Additionally, we provide valuable insights on when it is crucial to seek professional guidance and consultation before the diagnosis.
Read moreSection 3 – Diagnosis of Duchenne Muscular Dystrophy
In this section, we’ll explore key components of the diagnostic journey: Firstly, physical assessments, with a particular focus on neuromuscular assessments. Secondly, looking at the various testing methods including blood tests (specifically creatine kinase levels), genetic testing and muscle biopsies, where we will even delve into histology images, helping you understand what’s happening in the muscles. Together, we’ll navigate the path towards a better understanding of Duchenne muscular dystrophy.
Read moreSection 4 – Crucial Genetic Terminology
In the section we will demystify fundamental genetic concepts essential to understanding the underlying cause of Duchenne muscular dystrophy. We will explore three key concepts: DNA, chromosomes, and genes. We aim to use accessible and straightforward language to break down these complex science topics into bite-size pieces, and to help you grasp the foundations of genetics.
Read moreSection 5 – Genetics – Blueprint of Duchenne Muscular Dystrophy
In this section we explore the blueprints of Duchenne muscular dystrophy by exploring the dystrophin gene and how genetic mutations occur. Using simple and straightforward language to tackle complex topics such the exons of genes, reading frames, and splice variants, to help you understand the genetic underpinning of Duchenne muscular dystrophy. Join us as we grow our knowledge of Duchenne muscular dystrophy, together.
Read moreSection 6 – How is Duchenne Muscular Dystrophy Inherited
In the sixth section of Science Live we are exploring how Duchenne muscular dystrophy is inherited and passed on through the generations. To do so we will explore topics on mutations and genetic inheritance, as well as looking at who carriers are and how the condition affects them. Genetically inherited conditions are complicated and often bring up complex emotions, and with this section of bite-sized videos we hope to provide you with the foundations to understand the inheritance of Duchenne.
Read moreAction Duchenne would like to thank the following sponsors who have provided financial support for this project but have no involvement in this project: HM Government (in partnership with the National Lottery Community Fund), Pfizer, PTC Therapeutics, Roche, GWF, Sarepta Therapeutics and all the individuals who made their contributions to make this project happen.
