• Clinical trials in paediatric research

    A clinical trial is a research study that investigates how a drug or medical treatment works on people, including children. In the case of rare diseases, this is the only way that patients and
  • Amniocentesis test

    Amniocentesis is a procedure by which part of the amniotic fluid (the liquid contained within the amniotic sac) is removed for genetic testing during pregnancy. It is mainly used to detect anomalies
  • We speak with Gonzalo Bermejo, president of SYNGAP-1 Spain

    Gonzalo Bermejo’s daughter Carlota was diagnosed with SYNGAP-1 syndrome almost 4 years ago. She was 11 at the time. "The Spanish West Syndrome Foundation payed for our genetic test and the results
  • Prevalence, comorbidity and disease incidence

    What is the prevalence of a disease? In epidemiology, prevalence is the proportion of individuals in a group or population that presents a specific characteristic or event at a given time or period
  • First complete human genome sequence published

    The international research consortium Telomere-to-Telomere (T2T) has recently published a complete sequence of a human genome in Science Magazine. It is the first time in history that a completely
  • New experimental therapy for patients with recessive dystrophic epidermolysis bullosa proves successful

    A new experimental therapy has been successfully tested in 9 people with recessive dystrophic epidermolysis bullosa. The study, led by Standford University (USA), has been published in Nature and
  • Share4Rare webinar: Medical imaging in rare disease diagnosis

    Medical imaging tests allow health professionals to obtain whole-body internal images or to visualize specific parts or organs. These tests are often used to find a diagnosis and to establish disease
  • Animal-assisted interventions: a great tool to accompany and treat paediatric patients

    This innovative tool was introduced in Sant Joan de Déu by Mª Josep Planas (HSJD Planning Director) and Núria Serrallonga (Child Life HSJD) through the CTAC (Canine-Assisted Therapy Centre), where Eva
  • Analysis of sleep disorders in SYNGAP-1 syndrome

    Neurodevelopmental problems frequently come along sleep disorders. People with this type of brain damage often have trouble falling asleep or resting properly during sleep and may experience daytime
  • New Share4Rare study: Access to COVID-19 vaccination in people with rare diseases

    In 2020 we launched an international registry to study the effects of COVID-19 on people with rare diseases. At that time, there was little or no knowledge about the effects of the pandemic on the
  • Health-related quality of life in rare diseases

    Share4Rare is a growing community with thousands of users (patients, caregivers, and patient organisations) living with rare conditions. To study the impact and the burden of these diseases
  • The story of Hafiz: father of a Duchenne adult in Sri Lanka

    I am Hafiz Issadeen, a parent from Sri Lanka. I had a son with Duchenne muscular dystrophy who died last year at the age of 37. I thought he must be the oldest patient in Asia at that time. I used to