• 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
  • 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
  • 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
  • Omic sciences and their role in drug discovery

    Omics is an English neologism used in molecular biology as a suffix. This term usually refers to the study of a large set of biological molecules of the same type, usually to obtain information on the
  • 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
  • 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
  • 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