New Byers Eye Institute research uncovers a promising treatment for neurodegenerative diseases like ALS, glaucoma
The treatment approach targets diseases that cause degeneration of the axons in the central nervous system
Yang Hu, MD, PhD, professor of ophthalmology at the Byers Eye Institute at Stanford is making strides in his goal to find new, effective treatments for neurodegenerative diseases.
New research from Yang Hu, MD, PhD, professor of ophthalmology at the Byers Eye Institute at Stanford, provides strong evidence for a promising new approach to treat neurodegenerative diseases like glaucoma and amyotrophic lateral sclerosis (ALS), formerly known as Lou Gehrig's disease.
The answer, it turns out, resides within the working world of three little proteins that are critical in getting mitochondria — the proverbial powerhouses of the cell — distributed throughout our brains to supply energy.
Hu and his laboratory team discovered that a mutation in one of the proteins can halt or slow that process, leading to degeneration in the brain and a higher likelihood of developing neurodegenerative diseases. Now, through years of work, the Hu Lab has illustrated how they can use gene therapy to help the body compensate when one of those mutations appear.
“The goal of the Hu Lab is developing the first-in-human effective neural repair strategy for glaucoma, ALS, and other central nervous system axonopathies,” Hu said. “I’m excited to see that we are on a promising path.”
Their results in mouse models have filled Hu with optimism that the treatment could not only stop neurodegeneration in humans but may even improve symptoms in those already struggling with disease.
With their research findings in hand, Hu and his team are moving their work into preclinical studies. This means they’ll test both safety and effectiveness in larger lab animals with eyes more like human patients'.
Diving into the research
Hu’s latest work focuses on optineurin (OPTN), a protein involved in cellular functions that help control inflammation, cellular transport and autophagy (cell breakdown and recycling). OPTN is particularly important in neurons, the cells that send information between our bodies and our brains.
One of OPTN’s jobs in the body is to attach mitochondria to special transport proteins called TRAK1, and KIF5B, Hu’s lab team found. Once outfitted with mitochondria, the transport proteins move through long, thin tubes known as microtubules, which stretch along the axons in the brain to supply energy where needed.
Occasionally, those OPTN proteins end up with a mutation that slows or stops them from attaching the mitochondria transport proteins onto the microtubules. When that happens, the axons can start to degenerate, leading to neurodegenerative diseases like glaucoma and ALS.
Hu and his team’s work in the lab shows that gene therapy can help boost the needed proteins by making an inactive virus called the Adeno-Associated Virus (AAV) into a vehicle that delivers genetic material into cells. AAV’s, though they are a virus, do not have the ability to make people sick.
“The use of AAV’s as a gene therapy vehicle is an established practice,” Hu said. “Using AAV’s to overexpress the TRAK1, KIF5B and OPTN proteins can be translated into clinical use rather easily.”
In the meantime, Hu has received strong support for his promising work.
This work is sponsored by NIH R01 grant. And he’s also been awarded funding from Stanford’s Innovative Medicines Accelerator (IMA), and SPARK at Stanford, programs designed to eliminate obstacles and speed the translation of Stanford’s research discoveries into new treatments for patients.
Learn more
● Dr. Hu’s recent paper on this topic was published Feb. 20. 2025 in Nature Communications.
● Dr. Hu’s work was featured in the Byers Eye Institute 2023 annual report.
About Yang Hu, MD, PhD
Yang Hu, MD, PhD, is a professor of ophthalmology at the Byers Eye Institute at Stanford, a part of the Department of Ophthalmology at Stanford University.
Dr. Hu leads the Hu Lab, at the Mary M. and Sash A. Spencer Center for Vision Research, established at the Byers Eye Institute at Stanford. His team aims to develop efficient therapeutic strategies to achieve CNS neural repair, through promoting neuroprotection, axon regeneration and functional recovery.
Media inquiries
Janice Turi
Web and Communications
Department of Ophthalmology | Stanford University
Byers Eye Institute at Stanford
Tel: 515.321.2671
E: jturi@stanford.edu