• An amino acid shows therapeutic potential in people with GRIN-related disorders

    A pioneering clinical trial led by Dr Àngels Garcia-Cazorla from the Sant Joan de Déu Research Institute · Sant Joan de Déu Hospital has demonstrated that oral administration of the amino acid L
  • New mechanisms causing blindness in mouse models discovered

    A multidisciplinary research team, under the leadership of geneticist Gemma Marfany, has recently published an article in the journal Redox Biology. Their study, conducted using a mouse model, reveals
  • Early treatment of BCKDK deficiency significantly improves its symptoms

    Branched-chain ketoacid dehydrogenase kinase deficiency, or BCKDK deficiency, is caused by a mutation in this enzyme. This mutation results in a lower production of biomolecules known as branched
  • Biomarkers as key players in drug development

    A biological marker or biomarker is a molecule or parameter that can measure a state of health or disease. It can be used to detect a disease, a physiological change, a response to a treatment or a
  • The reconstruction of ancestral proteins from the CRISPR-Cas system opens up new possibilities for gene editing

    An international research team, led by Raúl Pérez Jiménez from the CIC nanoGUNE (San Sebastián-Donostia, Spain), has managed to reconstruct, through bioinformatics tools and for the first time, the
  • 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
  • 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
  • International Congress on the Effects of COVID-19 on People with Rare Diseases

    The International Congress on the Effects of COVID-19 on People with Rare Diseases will be held on November 9-11th 2020 and it is organized by the Sant Joan de Déu Barcelona Children's Hospital
  • Between hype and hope: the truth about gene therapy and genome editing in Duchenne muscular dystrophy

    About Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy affecting around 1 in 5,000 newborn boys worldwide. The main characteristic is a
  • Gathering people’s knowledge on cell and gene therapy to create tailored educational materials for patients and citizens

    Being educated on health sciences can bring you numerous benefits as a regular citizen, especially if your are a patient or a caregiver: this way you will be more empowered on and will be able to
  • The science corner: the immune system fighting cancer

    A recent paper published in Nature Immunology has raised a lot of enthusiasm amongst scientists and patients. Its remarkable finding was a cancer receptor that enabled a new group of T cells to
  • The rebellion of the leukocytes: Íngrid’s story

    One day, in the summer of 2018, Íngrid felt an unusual pain in the elbow and she noticed it was swelling. The traumatologist concluded that it was due to a simple tendonitis probably caused by the