• 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
  • 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