An international research consortium, which included the participation of the Mutagènesi Group from the UAB, has made outstanding progress in the study of Fanconi anaemia. They have described the function and range of possible mutations of the gene implicated in this disease that affects functions like nerve and skeletal development, blood cell formation and predisposition to cancer. This discovery will aid in detecting the defective gene that causes Fanconi anaemia, which is fundamental in prenatal diagnosis and even pre-implantation diagnosis where the objective is to select an embryo that is compatible with a transplant donor. Furthermore, identification of the responsible gene is indispensable for the future application of gene therapy.
