• A carer for family members with myotonic dystrophy talks about the challenges of diagnosis and living with this rare disease

    Nicky is a carer for six family members across three generations who have a diagnosis of myotonic dystrophy. Like many families, they had been living with the wide range of symptoms associated with
  • How are genetic diseases inherited I: autosomal dominant inheritance

    Some diseases are inherited in a family in a dominant way. This means that a child may inherit a normal copy of a gene and a mutated copy, and yet the latter will dominate or invalidate the working
  • EURO-NMD – An overview of European Reference Network for neuromuscular diseases

    A staggering 7000-8000 rare diseases affect the daily lives of around 30 million people across the European Union. Even though EU citizens benefit from improved access to healthcare throughout the
  • Gene therapy for congenital muscular dystrophy tested for the first time in patients' cells

    Within neuromuscular diseases, there is a broad group of low prevalence disorders known as congenital muscular dystrophies, which shown both clinical and genetic diversity. Symptoms usually appear at
  • Share4Rare and CIBERER join forces to identify patients with rare diseases

    CIBERER and Share4Rare have established a collaboration agreement to boost rare disease research. As a secure digital platform open to patients and caregivers from all over the world, Share4Rare
  • RDI and EURORDIS Webinar: The Fundamentals of International Advocacy for Rare Diseases

    Sometimes we want to give a helping hand, but we are not sure where we should be focusing our efforts. To fight for patients and caregivers' rights, rare disease advocates must learn basic skills and
  • Sheonad Macfarlane, mum of a girl with SMA: “Over time, you become an expert on your child’s condition”

    “Eilidh was a perfect little baby. She reached her milestones on time until she started - then promptly stopped – crawling. Eilidh wasn’t moving like other 10-month-old babies: she now hated being on
  • The new “People Like Me” version in the Share4Rare platform

    The goal of Share4Rare is to advance the knowledge of rare diseases through collaborative intelligence. This approach assumes a philosophy based on equity, in which the more information the user
  • Chromosome translocations

    What is a translocation? In a chromosome translocation there is a change in the location of the chromosomal material. This can happen because: An error has occurred during the formation of the egg or
  • Tips for preparing your summer holidays

    Many families will have already started the summer break period. Occasionally, if you do not prepare on time everything you need for your trip, holidays can be more of a nightmare than a period of
  • Structural chromosomal abnormalities

    Structural chromosomal abnormalities occur when a portion of a chromosome is missing, duplicated or rearranged in some way. Changes in chromosome structure can occur in different ways as we will
  • Rare Diseases Hub Ukraine in response to rare pathologies

    It is estimated that there are around 2 million patients in Ukraine suffering from rare diseases. This situation has been exacerbated by the crisis resulting from the war. Rare diseases affect 5 out