Restoring vision: a breakthrough in retinal cell therapy
Autosomal Dominant Optic Atrophy (ADOA) is a genetic disorder that primarily affects the optic nerves. The optic nerves are critical for transmitting visual information from the eyes to the brain. The condition often leads to progressive vision loss, beginning in childhood or early adulthood. ADOA is most commonly caused by mutations in the OPA1 gene, which plays an essential role in the health and function of mitochondrial networks in cells. Understanding the cellular abnormalities in ADOA is essential for developing targeted therapies to reverse vision loss associated with this condition.
Thanks to the incredible support of our donors, researchers at Stanford Medicine are making promising progress in restoring vision to people with optic nerve damage – a leading cause of blindness. Dr. Jeffrey Goldberg en Dr. Joyce Liao, both professors of ophthalmology at the Byers Eye Institute at Stanford Medicine, are collaborating on groundbreaking work aimed at replacing damaged retinal cells with healthy new cells grown from the patient's own skin cells.
In the lab, scientists transform these skin cells into special stem cells known as induced pluripotent stem cells (iPSCs), which can then be turned into optic nerve cells (retinal ganglion cells – RGCs). Optic nerve cells are crucial because they send visual signals to the brain. The hope is that transplanting these stem cell-derived optic nerve cells into the eye will one day help restore vision, even in patients who have lost most of their optic nerve cells.
To test this approach, researchers are conducting detailed studies in mice. These studies allow scientists to observe how the transplanted cells behave in a living eye, including whether they survive, grow connections, and help protect remaining vision. This step is essential before treatments can be safely tested in humans.
The team is also using retinal organoids – small, lab-grown versions of the human retina – to better understand how retinal cells develop and to improve transplantation techniques.
Additionally, scientists are studying ADOA specifically by creating cell models using skin cells from patients. These models help investigate how gene editing can correct the underlying cause of vision loss. Gene-edited autologous iPSC-derived optic nerve cells may have the best chance of successful transplantation because they have a low risk of rejection and a greater chance of integration. These models can also be used to screen new therapies for ADOA on a large scale.
“We are excited about the potential of our research to not only restore vision, but also to offer hope to patients who currently have limited treatment options,” said Professor Jeffrey Goldberg, one of the lead researchers. “It is still early days, but we believe the work we are doing now could be a major breakthrough in the treatment of vision loss,” added Professor Joyce Liao.
Your donations make all of this possible. A gift of $100.000 now funds a full year of research by a dedicated postdoctoral scientist. Every gift helps bring this important work closer to helping patients.
