Article by Marta Ricard | La Vanguardia | 12.12.2022
“Maybe it’s a method of denying the pain, but we jump headlong into the fight,” says the mother. They met a US organization that disseminates Usher syndrome, Save Sight Now, which supports their research, and the couple decided to launch a European branch savesightnoweurope.org. They want to raise funds and support for research and raise awareness about the disease. They have already contacted more families.
“A gene therapy is being investigated against the Usher: introducing into the affected person a good copy of the altered gene (in the type Bruna suffers from, MYO7A), so that it can replace it and do its job well, or introduce instructions to correct the genetic alteration, which would prevent the degradation of the retina.
It seems simple but it entails enormous complexity. One difficulty is that it is a large gene (with many instructions), too large for the transport vectors that are usually used in gene therapy –usually empty viruses that are filled with the information of the gene to be modified, are introduced into the organism and deposit their charge on DNA. Therefore, it is tried to divide the gene into two vectors.”