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Spanish Researchers have managed to correct the genetic defect in the stem cells in blood of patients with Fanconi anemia by using a novel way of editing the genome. This work, published today in the journal Cell Stem Cell, shows for the first time that the controlled generation of mutations, with the technology of CRISPR/Cas9 can be corrected effectively mutations original responsible for this disease. In addition, cells edited to show a higher growth than the diseased cells , which allows the progressive replacement of these latter.
The research, which is proposed as a treatment strategy both for the Fanconi anemia to other diseases that affect blood stem cells due to its simplicity and high efficiency, has been conducted by researchers of the Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT), the Centre of Biomedical Research Network on Rare Diseases (CIBERER) and the Institute of Health Research of the Jiménez Díaz Foundation (IIS-FJD) directed by Paula River , of the Division of Innovative Therapies that coordinates Juan Bueren. The first author of the work is F rancisco José Román-Rodríguez.
due to its simplicity and high efficiency, this strategy could be used for the treatment of this and other diseases that affect blood stem cells.
The sickle Fanconi anemia is a rare disease of genetic origin characterized by bone marrow failure and cancer predisposition which manifests itself in the greater part of the patients by the deficient production of blood cells at very early ages. The blood stem cell transplant from a healthy donor is currently the therapy of choice in these patients. Although this type of transplantation has improved substantially in recent years, not all patients have a suitable donor . In addition, these treatments are not exempt from reactions of scrap and other types of risks to the long-term.
A recent clinical study, coordinated by this same group of CIEMAT/CIBERER/IIS-FJD, in collaboration with the Hospital del Niño Jesus of Madrid and the National Network of Fanconi Anemia has been shown that the stem cells in blood of these patients can be corrected by means of the introduction of a copy of the healthy version of the affected gene.
Fanconi anemia is a rare disease of genetic origin characterized by bone marrow failure and cancer predisposition that is manifested in most patients by the deficient production of blood cells very early ages
This work goes a step further in the correction of the blood stem cell of patients with Fanconi anemia, since that has been achieved in preclinical models to correct directly the own mutated gene through the modification directed the genome of these cells (edit a gene) using the system known as CRISPR/Cas9.
The technology, CRISPR/Cas9 allows you to generate highly precise cuts in specific regions of the DNA. In the case of the stem cells of the blood, the cuts are repaired mainly through a mechanism is not necessary (repair NHEJ) that frequently introduces changes in the sequence, which generally produces undesirable effects in the cells.
restores the properties that characterize a stem cell healthy, as are their high capacity of division
Paradoxically, in this work we demonstrate that the generation of new targeted mutations in stem cells of patients with Fanconi anaemia constitutes a procedure extremely simple that can compensate effectively the initial mutations responsible for the disease of these cells. With this, he restored the properties that characterize a stem cell healthy, as are their high capacity of division and their ability to repair lesions produced by compounds that damage the DNA.
“The simplicity and high efficacy of this approach to editing the gene suggests that it could be used as a strategy to correct not only the anaemia of Fanconi anemia, but also other monogenic diseases that affect the blood stem cells”, highlight Francisco José Román and Paula River.
