• A new nomenclature for Limb Girdle Muscular Dystrophies (LGMD)

    The 229th ENMC international workshop, entitled ‘Limb Girdle Muscular Dystrophies – Nomenclature and reformed Classification’ took place from the 17th to the 19th of March 2017 in Naarden (The
  • What causes Amyotrophic Lateral Sclerosis (ALS)?

    Amyotrophic lateral sclerosis: a patient’s journey «It was a sunny Sunday morning in the middle of September. Amy was playing in the local playground under the watchful eye of her parents, trying to
  • WDO Member Meeting

    The main aim of the WDO Member Meeting was to gather patient organizations, scientists, researchers and experts working in the Duchenne field to share and build on each other’s knowledge to create
  • Let’s make rare extraordinary! Welcome to Share4Rare

    Rare diseases affect less than 5 of every 10,000 people, with 80% being children. Share4Rare is born from the need to connect and join patients with rare diseases from all over the world. Our greatest
  • RareHacks: uniting experts to build the future of the rare disease community

    What is RareHacks? RareHacks is a hackathon event that brings you the opportunity to apply data science tools, including machine learning and natural language processing algorithms, to a real
  • CPMS Platform for European Reference Networks (ERNs)

    European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe who aim to tackle complex or rare diseases and conditions. There are 24 ERNs involving 25 European
  • Giant congenital melanocytic nevus - Causes and Consequences

    Lucas was born with some birthmarks on his skin. These giant marks appear due to a defect in the melanocytes during the embryonic development. These cells are responsible for producing melanin, the
  • 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 that
  • 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 any