• 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
  • Duchenne 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 is
  • Duchenne 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 protein
  • Share4Rare: 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 that
  • Melanoma - back at the Edge

    MPNE, the Melanoma Patient Network Europe , is a network of melanoma patients and carers that connects people across language barriers in Europe to make sure correct information and support reaches
  • Share4Rare 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 are
  • Xeroderma 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 near
  • Rare 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 established
  • Share4Rare: 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 are
  • How 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
  • VISION-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 ambulant
  • Share4Rare Webinar IV: “Creating the infrastructure for translational research”

    On Tuesday December 11, 7pm CET , Share4Rare hosts a webinar that will describe the objectives, goals and achievements of the specialist network TREAT-NMD. Established in the neuromuscular field TREAT