• What are inflammatory myofibroblastic tumours?

    Inflammatory myofibroblastic tumours 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
  • What is X-linked recessive inheritance?

    The X chromosome contains many genes that are important for growth and development. The Y chromosome is quite smaller and contains fewer genes. Females have two copies of the X chromosome (XX), thus
  • What is gene therapy? Basic concepts and current state of research

    Gene therapy fixes genetic mutations that cause a pathology or the malfunction of a biological process by introducing a “correct” copy of the affected gene into our cells. We can achieve this in
  • Czech Republic presents a Call to Action on rare diseases at the Expert Conference

    Several European politicians and technicians attended this conference where the Czech government committed to push on a European action plan on rare diseases, presenting a Call to Action also endorsed
  • How online education can help children with rare diseases

    The number of European Union citizens living with rare diseases is estimated to be around 30 million, according to Eurordis Rare Diseases Europe. In fact, 1 in 17 people will be affected by a rare
  • Pere Cardona, Spanish Association of Stiff Person Syndrome: "Being able to talk and be close to someone who is going through the same thing can really save you"

    Isabel worked at a supermarket in Calella (Barcelona). 10 years ago, when she was getting ready to go to work, she noticed how her right leg would not follow the orders she was sending from her brain
  • First clinical guidelines for Schaaf-Yang syndrome addressed to professionals and families

    A research group led by the Sant Joan de Déu Research Institute (IRSJD) has published the first clinical guidelines dedicated to Schaaf-Yang syndrome (SYS), an ultra-rare disease that develops due to
  • How are genetic diseases inherited II: autosomal recessive inheritance

    Some diseases are recessively inherited. This means that a person has to inherit two mutated copies of the same gene (one mutated copy from each parent) to develop the disease. If a person inherits a
  • 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