Gene therapy in pseudohypoparathyroidism
In 1942, Albright and colleagues described the first hormone resistance syndrome, which they called pseudohypoparathyroidism (PHP) (1), patients had a specific phenotype consisting of short stature, central obesity, round face, short neck and brachydactyly, which is what that today we know like Albright Hereditary Osteodystrophy (AHO, Albright Hereditary Osteodystrophy).
Nanobiocel research group, coordinator of NANBIOSIS U10. Drug Formulation, is working on the project “Gene therapy in pseudohypoparathyroidism: experimental development based on CRISPR / CAS9 and non-viral vectors“. The objective of the project is to design and validate the ex vivo gene therapy protocol for the correction of known mutations in the GNAS gene, causing pseudohypoparathyroidism (PHP) type 1A and pseudoPHP, through the following operational objectives: (1) Validation of the model lymphoblasts (immortalized or not) for the application of gene therapy; (2) CRISPR / Cas trial design and vehicularization in non-viral vectors; (3) Identification and characterization of off-target insertions (if any) and (4) Confirmation through functional studies of the correct functioning of the protein obtained from the modified gene.
