Preclinical study shows gene editing restores altered dystrophin levels in Duchenne
What is DMD? DMD is a disorder that mainly affects boys and is characterized by progressive muscular degeneration and atrophy. It is caused by mutations in the gene encoding dystrophin, a protein thatDuchenne and Becker muscular dystrophy: Treatment & Research. Part II.
Investigations Genetic testing will confirm the diagnosis of Duchenne and Becker and show the exact mutation in the gene. Often the first test is a blood test measuring CK (creatine kinase), which isDuchenne and Becker muscular dystrophy: types & causes. Part I.
What is Duchenne- and Becker Muscular Dystrophy? Duchenne and Becker MD are both X-linked recessive disorders. Both diseases are caused by mutations in the dystrophin gene, which encodes the proteinShare4Rare: helping to tackle problems faced by parents of children with rare diseases
When your child is diagnosed with a rare disease — or he/she is still undiagnosed —parenthood becomes harder than expected. You face complete uncertainty as you probably know nothing about thatShare4Rare Webinar V: "How to Detect & Tackle Pseudoscience"
Just as fake news seems to become an inevitable grudge whenever you look for news or information online, fake science is on the rise too, and it stirs up the rare disease community. Articles that areXeroderma pigmentosum, a journey against the sun
Xeroderma pigmentosum: a patient’s story «He was 3 years old when he was diagnosed with Xeroderma pigmentosum». “Little Josh”, as his mother liked to call him, had been born in a small town nearRare Disease Day – Make your voice heard!
Rare Disease Day is an international event whose objective is to raise awareness, improve treatment access and provide visibility for individuals suffering from a rare disease. Originally establishedShare4Rare: facing patient isolation by boosting research on rare diseases
Having a child with a rare disease is never easy. It is hard to know what the future holds, there are only a few people like your child to learn from and, to make things worse, most of them areVISION-DMD App for boys with Duchenne Muscular Dystrophy
The Vision-DMD project aims to advance and accelerate the clinical development of the orphan drug Vamorolone —also known as VBP15— for the treatment of Duchenne Muscular Dystrophy (DMD) in ambulantHow to build an infrastructure for translational research
On 11th December 2018, Rebecca Leary, EURO-NMD Project Manager and member of the TREAT-NMD Secretariat and Cathy Turner, DMD Liaison and TACT Coordinator at the John Walton Muscular Dystrophy Research