Oct 5, 2026

FBC-Funded Research Contributes to First-in-Human Gene Therapy

A Canadian teenager recently became the first person in the world to receive a revolutionary new gene therapy for people living with Bardet-Biedl syndrome Type 10 (BBS10). And Fighting Blindness Canada-funded research helped pave the way.

It’s a first-in-human gene therapy for the BBS10 gene and, in total, three young people have received the novel treatment, which was administered in the United Kingdom. Doctors will now follow them to ensure that the treatment is both safe and effective in helping to preserve vision.

BBS is a rare genetic condition that causes progressive retinal degeneration beginning in childhood. It affects between one in 140,000 to one in 160,000 people in Canada. About 15% of cases are caused by mutations in the BBS10 gene, and it is this gene that the new treatment targets ― thanks in part to FBC.

As with all such treatments, this gene therapy draws on years of research, including early research funded by FBC and led by Dr. Arlene Drack at the University of Iowa. Her team phenotyped a mouse model of BBS10 and went on to show that gene replacement could delay retinal degeneration and reactivate cone photoreceptors, providing important evidence supporting the development of potential treatments, including this one.

A grant from FBC funded the initial mouse gene therapy development, paving the way for this important translation to people.