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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.
The project will be carried out by the following research groups: BioAraba of Molecular Epigenetics in rare diseases, led by Dr. Guiomar Pérez de Nanclares, in the OSI Araba – Txagorritxu, the group Nanobiocel, led by Jose Luis Pedraz at UPV/EHU, this group is part of CIBER-BBN and ICTS NANBIOSIS and the group of Professor Cesar Martin, Biofisika Institute (UPV/EHU, CSIC).
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