Sechenov University leads pioneering gene therapy research for Usher syndrome
Named for the scientists associated with the First Moscow State Medical University, Sechenov University and the Russian health authorities are advancing a gene therapy project aimed at Usher syndrome. This program centers on using viral vectors to deliver healthy gene copies to retinal cells, with the goal of slowing or stopping vision loss caused by the disease. The team has shared progress with media outlets and emphasizes the collaboration between scientific laboratories and clinical researchers at Sechenov University (Sechenov University).
Usher syndrome is a genetic disorder that causes progressive deterioration of both hearing and sight. Early in the course, individuals typically experience night or dusk vision problems and reduced peripheral vision, followed by gradual, ongoing vision loss. While there is currently no treatment that halts the disease in Russia or elsewhere, researchers are exploring gene-based approaches to intervene in the underlying causes and alter the disease trajectory (Sechenov University).
The retinal degeneration characteristic of Usher syndrome is linked to a mutation in a specific gene. The experimental drug aims to slow disease progression by delivering a functional copy of the disrupted gene directly to retina cells through viral vectors. This strategy relies on precision delivery to affected tissues, with the intention of preserving existing vision and delaying further decline (Sechenov University).
According to the laboratory head, Alexander Malogolovkin, the team develops and tests gene therapy products that use viral vectors. The vectors chosen are adeno-associated viruses, which are considered safe for humans. They do not multiply within the body, nor do they cause disease; their primary role is to transport genetic material into cells, acting as a delivery system for the therapeutic gene (Sechenov University).
Researchers have already established the methods to produce, purify, and concentrate viral vectors. They have created a unique genetic construct and successfully packaged it into the vector. In initial experiments, the delivery mechanism was tested on cultured retinal pigment epithelium cells, confirming that the gene copy can be introduced and function inside target cells. The team plans the next phase to involve testing in laboratory animals, with early 2024 anticipated as the starting point for those studies (Sechenov University).
The stated aim of the gene therapy program is not to restore vision already lost but to slow the progression of blindness in Usher syndrome. The researchers also hope that early intervention could ultimately prevent vision loss in individuals who have not yet shown symptoms. The sooner treatment begins, the better the prospects for preserving sight according to the leadership of the project (Sechenov University).
Historical notes show Russia has previously contributed notable biomedical innovations, such as the development of practical artificial muscles powered by alternating current. The current work at Sechenov University continues the tradition of transforming basic science into potential clinical solutions that address lifelong sensory challenges (Sechenov University).