• An international congress to be held in Barcelona will boost research in infantile gliomatosis cerebri

    The III International Congress for Research on Infantile Gliomatosis Cerebri will be held in Barcelona next September 22nd and 23rd, and it is organized by Izás, la princesa guisante (Spain) and co
  • What is Proteus syndrome? Symptomatology and genetic origin

    As we mentioned in a previous article , PI3K related overgrowth syndromes, which include Proteus syndrome , have been linked to a mutation in AKT , (in this case the isoform AKT I) and has a
  • The genetic and biochemical origin of the PI3K related overgrowth syndrome (PROS)

    Cells replicate obeying to extra and intracellular signaling pathways. External signaling includes stimuli from hormones , inflammatory factors or other external influences that can alter the cells
  • 10 things we learned from choosing chatbots as a theme for our rare disease hackathon

    This weekend the Share4Rare hackathon RareHacks took place in Barcelona . During these three days, over 45 data scientists, computer scientists and clinicians joined forces in response to the needs of
  • Understanding the Sturge-Weber syndrome

    The Sturge-Weber syndrome is characterized by the deficient development of certain blood vessels, leading to structural abnormalities; especially in the brain, skin and eyes. Three features are
  • Inflammatory myofibroblastic tumors: treatments and research

    Because of the low index of metastasis in inflammatory myofibroblastic tumours (IMTs), surgery is normally the preferred and best option. The surgical resection of the tumour can be definite and
  • What are inflammatory myofibroblastic tumors?

    Inflammatory myofibroblastic tumors are more commonly referred to as IMTs . Their name comes after two different types of cells: “Myo” comes from the greek term “ Myos ”, which means muscle, and
  • Can children get melanoma?

    Skin melanoma in children is very rare: out of 1.1 million children under the age of 4, less than 1 will be diagnosed with melanoma. For children under the age of 10, the number of melanoma cases has
  • What is infantile myofibromatosis?

    Infantile myofibromatosis (IM) is a rare benign soft tissue tumor, meaning it can grow wherever there is soft tissue – this includes many tissues in our body, the most prevalent areas are the skin and
  • What are the causes of neuroendocrine pancreatic tumors (pNETs)?

    Genetic origin of pNETs As it seems, there are several risk factors that may make a child or adolescent more likely to develop a neuroendocrine pancreatic tumor or pNET . These risk factors are
  • 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
  • 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