In the face of childhood neurodevelopmental disorders, how can we get out of the therapeutic "dead end"? The answer could well be found in the genes of the proteasome – an intracellular mechanism that is responsible for removing defective proteins from the cell.
What is the origin of the ancestors of present-day fish? What species evolved from them? A 50-year-old scientific controversy revolved around the question of which group, the "bony-tongues" or the "eels", was the oldest. A study by INRAE, the CNRS, the Pasteur Institute, Inserm and the Muséum National d'Histoire Naturelle, has just put an end to the debate by showing through genomic analysis that these fishes are in fact...
Emulsifiers are food additives that are used to improve texture and extend shelf life. They are found in many processed products (ice cream, packaged cakes, sauces, etc.) despite having demonstrated harmful effects on intestinal balance. In a new study, scientists from Inserm, CNRS and Université Paris Cité at Institut Cochin in Paris sought to counteract these effects by using Akkermansia muciniphila, a bacterium naturally present in the intestine, to...
Both sickle cell disease and beta-thalassemia are genetic disorders that affect hemoglobin, and as such are categorized as beta-hemoglobinopathies. A team of scientists from Inserm, Université Paris Cité and the Paris Public Hospitals Group AP-HP at the Imagine Institute has shown the efficacy of a gene therapy approach to treat these two disorders. The principle is to reactivate in patients the production of fetal hemoglobin, a protein whose expression...
Véritable problème de santé publique, le diabète de type 2 touche des millions de personnes dans le monde. Développer de nouveaux médicaments, qui permettent de mieux traiter les causes sous-jacentes de la maladie, est donc une priorité de recherche. Dans une nouvelle étude coordonnée par le chercheur Inserm Vincent Marion au laboratoire de génétique médicale (Inserm/Université de Strasbourg), les scientifiques ont conçu un nouveau produit appelé PATAS, dans une...
Des scientifiques du Trinity College de Dublin, de l’Inserm, d’Université Paris Cité et de l’AP-HP au sein de l'Institut Imagine à l'hôpital Necker, à Paris, viennent de découvrir un second gène responsable d'une maladie très rare appelée hémiplégie alternante de l'enfant (HAE). Il s'agit d'une maladie sévère qui peut entraîner une paralysie répétée affectant un côté du corps, ou l'autre, ou parfois les deux à la fois. Elle atteint...
Researchers report that the MICA gene is a new histocompatibility gene, in that it helps to better explain and predict the success or failure of a kidney transplant. Their findings have been published in Nature Medicine.
Myotonic dystrophy type 1 (DM1) or Steinert’s disease is a rare and debilitating genetic neuromuscular disease affecting multiple organs and with a fatal outcome. No treatment is available at present. Encouraged by previous research into its molecular causes, researchers have developed and tested a promising gene therapy that acts directly at the origin of the disease. Initial findings show correction of molecular and physiological alterations in mouse skeletal muscle1.
Teams of researchers conducted a clinical gene therapy study consisting of transplanting in the patient's own genetically modified hematopoietic stem cells. This phase I/II clinical trial was carried out in patients with sickle cell disease or transfusion-dependent beta thalassemia, common genetic diseases that affect red blood cells.
Researchers have carried out work on treatment by gene therapy consisting of transplanting the patient's own genetically modified hematopoietic stem cells as part of a phase I/II clinical trial in 8 patients with Wiskott-Aldrich syndrome (WAS).
