Alzheimer’s disease (AD) the progressive loss of nerve cells causes cognitive impairment and behavioral disorders. Although the adult mammalian brain retains the ability to generate new neurons from neural stem / progenitor cells, these cells are not an abundant or readily available source for their potential use in the treatment of neurodegenerative diseases. The generation of neural stem cells (NMCs) from human induced pluripotent stem cells (hCMPC) provides very valuable tools both for the study of the molecular mechanisms that lead to the development of neurodegenerative diseases, including AD, and for their potential use in replacement therapies. The possibility of obtaining CMPIh from the reprogramming of patient-specific cells further expands this alternative, constituting an ideal cellular source for disease modeling. The objective of this line of work is to obtain an in vitro system to study an as yet unreported genotype of AD using cell reprogramming technology from peripheral blood cells of a patient with a candidate sequence variant in the Presenilin 1 gene. Using the directed genomic editing technology, the CRISPR-Cas9 system, to reverse the mutation we seek to elucidate whether this mutation not yet reported is associated with the development of AD. The study is aimed at establishing how genetic alterations impact the triggering of the disease and the response to a certain treatment, thus being able to predict the efficacy of a drug.
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