• Markel’s story: the uncertainty of living without a diagnosis

    Markel lives with his parents, María and Vicen, and his older sister Carlota in Urnieta, a small town near San Sebastián, Basque Country (Spain). He will become 13 in August, but he looks much younger
  • Diagnosing and treating gliomatosis cerebri

    What is a biopsy? A biopsy is an extraction of little samples of tissue that are to be checked under the microscope by pathologists . Tumors are biopsied in their origin, to assure that tumor cells
  • 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
  • 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
  • The POWER-tool: a new effective method that helps involving patients in clinical trial design

    Research on rare diseases is often difficult to perform mainly because there are only a small number of cases to study, resulting in a vaguely representative statistical analysis of the data. For
  • Cancer therapies assessment indicators need to be reviewed according to a novel study

    A recent publication on JAMA Internal Medicine refutes any association between progression-free survival (PFS) and health-related quality of life ( HRQoL) in cancer patients. In other words, delaying
  • How to guarantee quality in translational research for neuromuscular diseases

    It is not easy to go from basic drug research to clinical trials on humans, and for rare neuromuscular diseases the scenario is even harder. Besides, not always all the projects arrive to the human