• 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
  • Tips for preparing your summer holidays

    Many families will have already started the summer break period. Occasionally, if you do not prepare on time everything you need for your trip, holidays can be more of a nightmare than a period of
  • 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
  • Rare Diseases Hub Ukraine in response to rare pathologies

    It is estimated that there are around 2 million patients in Ukraine suffering from rare diseases. This situation has been exacerbated by the crisis resulting from the war. Rare diseases affect 5 out
  • Genes, chromosomes and chromosomal anomalies

    First things first: What are genes and chromosomes? Our body is made up of millions of cells and most of these cells contain a complete set of genes. Genes are like a set of instructions that control
  • 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
  • What is a patient registry?

    A patient registry collects information about patients who are affected by a particular condition. Registries are databases containing quantitative and qualitative data about the patients. In rare
  • «The role of Pediatric Palliative Care Units is key to give visibility to siblings of sick children inside the family»

    S4R: What does it mean to receive palliative care? Which kind of attention do these children receive? PPCU: Pediatric palliative care is defined by the WHO as the active and total assistance of the
  • 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
  • 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