Podcast recap: Justin Porcano on speeding up treatments for Usher syndrome type 1B
In the last episode of The Genetics Podcast, Patrick spoke with Justin Porcano, co-founder and executive director of Save Sight Now, a nonprofit accelerating therapies for Usher syndrome type 1B (USH1B). Justin and his wife, Rosalyn, launched Save Sight Now after their daughter, Leah, was diagnosed in 2018. The rare genetic condition causes profound deafness at birth, vestibular dysfunction, and progressive vision loss.
Save Sight Now’s approach offers a practical playbook for rare-disease communities: identify the real translational bottlenecks, fund enabling tools, and form partnerships that pull programs toward the clinic.
From diagnosis to action
After Leah failed her newborn hearing screen and was confirmed profoundly deaf at two weeks, genetic testing revealed pathogenic variants in USH1B. The Porcanos began asking scientists and companies what was actually blocking progress. Three themes kept surfacing: limited disease models that map to human retinal biology, delivery constraints for a gene too large for a single AAV vector, and the need for clear, regulator-ready clinical endpoints.
Early on, Save Sight Now partnered with the Foundation Fighting Blindness to channel their first year of fundraising (about $250k) into USH1B work while building relationships and a roadmap.
The biology that shapes the strategy
MYO7A is a gene expressed in inner-ear stereocilia and in the retina. In USH1B, hair cells are structurally abnormal at birth and the retina undergoes progressive photoreceptor degeneration that can lead to legal blindness by adolescence. That combination creates two different treatment challenges. Hearing loss requires solutions like cochlear implants because the damage happens before birth, while vision loss still offers a window for treatment if therapy can reach the retina early enough. It also creates a delivery challenge: MYO7A is too large for a single AAV, so developers must rely on dual-AAV, RNA-level reconstitution, or non-viral delivery.
Building the shared tools the field needs
Save Sight Now has focused on assets that compress timelines for everyone. A naturally occurring USH1B porcine model in Germany is showing the expected vestibular and auditory phenotypes, with retinal characterization underway.
In parallel, the team has supported human iPSC-derived retinal models to iterate quickly and de-risk before large-animal work. At OHSU, researchers created a non-human primate carrying MYO7A loss to model USH1B in a primate retina. The goal now is to make that pipeline reproducible.
On the clinical side, Save Sight Now funds the UNIRARE natural-history cohort (about 40 participants) and complementary work at Institut de la Vision to lock in outcomes and trajectories that matter to regulators and sponsors. These tools are precisely what industry teams require to advance from concept to IND.
The therapeutic landscape: what’s moving
Several approaches are converging. Dual-AAV gene replacement for MYO7A is already in clinical testing, with two vectors carrying halves of the gene that reconstitute a functional product in retinal cells. RNA-level reconstitution (“end-joining”) aims to stitch together full-length coding sequences at the RNA stage, potentially sidestepping AAV payload limits and permanent edits.
Non-viral delivery using lipid or synthetic nanoparticles is advancing and could reduce immunogenicity while accommodating larger payloads if ocular targeting and durability continue to improve. Because USH1B retinal degeneration is progressive, adjunct pharmacology (e.g., antioxidants) may slow cell loss, extending the therapeutic window until gene-targeted treatments are available.
Timing matters
For hearing, hair cell abnormalities in USH1B are present at birth, so cochlear implants remain the realistic option after newborn screening. For vision, earlier intervention is better as preserving photoreceptors depends on how quickly treatment can be delivered. Save Sight Now backs both window-extending adjuncts and gene-targeted programs in parallel.
Why Save Sight Now went independent and what’s next
After six formative years partnering with the Foundation Fighting Blindness, Save Sight Now became an independent nonprofit to fund beyond academia, support biotech directly, and move on a rolling basis rather than fixed grant cycles. The plan is to sustain roughly $1M/year in non-dilutive funding, catalyze larger investments when there’s a clear clinical path, and aim to enter clinical trials within five years. This may be for repurposed or optimized small molecule/antisense oligonucleotide to extend vision, or a gene-targeted approach that leverages the new models and endpoints.
A message to industry
Patient organizations are serious, capable partners. Save Sight Now can bring funding, disease-relevant models, trial-ready participants, and natural-history data. Early collaboration on endpoints, feasibility, and design de-risks programs and accelerates the field. Honest deprioritization is far better than distance; families understand the realities of portfolio management and value transparency.
How to get involved
Researchers and companies working on large-gene delivery, retinal pharmacology, or vestibular restoration can connect with Save Sight Now to access models, cohorts, and co-funding for translational steps. Supporters can also back the mission financially. The annual benefit is November 6 in Mill Valley, California.
Families worldwide are encouraged to engage: Save Sight Now collaborates with partners in Europe and Australia to build international cohorts essential for future trials.
Listen to the full episode below.