• 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
  • 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
  • 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
  • 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
  • Share4Rare and CIBERER join forces to identify patients with rare diseases

    CIBERER and Share4Rare have established a collaboration agreement to boost rare disease research. As a secure digital platform open to patients and caregivers from all over the world, Share4Rare
  • 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