• 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
  • Genes, chromosomes and chromosomal anomalies

    First things first: What are genes and chromosomes? Our body is made up of millions of cells and most of these cells contain a complete set of genes. Genes are like a set of instructions that control
  • Toxic agents, radiation and microbes: non-genetic factors that can cause a rare disease

    Approximately 80% of rare diseases have a genetic origin and are present at birth. However, rare diseases are not always caused by a de novo mutation —occurred spontaneously during reproductive cell
  • What is a patient registry?

    A patient registry collects information about patients who are affected by a particular condition. Registries are databases containing quantitative and qualitative data about the patients. In rare
  • «The role of Pediatric Palliative Care Units is key to give visibility to siblings of sick children inside the family»

    S4R: What does it mean to receive palliative care? Which kind of attention do these children receive? PPCU: Pediatric palliative care is defined by the WHO as the active and total assistance of the