Podcast recap: Huma Qamar on pioneering gene therapy for retinal disease

In a recent episode of The Genetics Podcast, Dr. Huma Qamar, Chief Medical Officer at Ocugen, shares her extraordinary journey from a small town in Pakistan to the forefront of next-generation gene therapy in the United States. A physician, scientist, and public health advocate, Dr. Qamar is leading Ocugen’s efforts to develop durable, one-time gene therapies for rare inherited eye diseases such as retinitis pigmentosa (RP), Stargardt disease, and geographic atrophy.

An inspirational story of grit, vision, and purpose

Dr. Qamar’s path to biotechnology leadership began in Rawalpindi, Pakistan. Armed with a vision to become a physician in the U.S., she arrived with just $88 and a dream. Her early days were marked by relentless determination: volunteering in research labs, navigating cultural and financial barriers, and eventually earning positions at Yale, Harvard, and UPenn.

She attributes her success to persistence, positivity, and unwavering self-belief. Her story also underscores the importance of support networks, community, and a commitment to giving back.

Tackling blindness with gene therapy

At Ocugen, Dr. Qamar is spearheading development of a novel gene therapy platform aimed at curing rare retinal diseases. One of their most promising candidates is OCU410, a gene therapy for Stargardt disease, which just received pediatric rare disease designation from the FDA. This therapy is designed as a single, subretinal injection that could last a lifetime.

She also highlights the progress of OCU400, a gene-agnostic therapy for RP that targets master gene regulators to restore retinal homeostasis. Unlike traditional gene therapies that are mutation-specific, OCU400 is designed to benefit a much broader population, including the more than 98% of RP patients with no treatment options today.

Overcoming clinical and regulatory complexity

Developing gene therapies for the eye comes with unique challenges. Although the eye is immunoprivileged and requires small doses of vector, standardizing surgical delivery and managing inflammation are critical for success. Dr. Qamar explains that Ocugen has carefully optimized subretinal injection techniques and dosage volumes through rigorous preclinical and Phase 1 trials.

She also notes the differences between running oncology versus ophthalmology trials. In oncology, the clinical and regulatory landscape is more established. By contrast, ophthalmic gene therapy lacks validated safety dictionaries, biomarkers, and patient-reported outcome measures. Accordingly, companies must break new ground in trial design and regulatory strategy.

Designing gene-agnostic trials for inherited eye disease

With over 150 known RP-related genes and many patients who lack a clear genetic diagnosis, Dr. Qamar explains that mutation-specific therapies are not scalable. Instead, Ocugen’s gene-agnostic approach could provide treatment to a wider population. She emphasizes the importance of thinking strategically about regulatory alignment, market access, and patient diversity when designing trials for rare diseases.

The company is now conducting pivotal Phase 2/3 trials for both OCU400 and OCU410, with the potential to file BLAs within the next two years. Ocugen’s clinical strategy combines traditional dose-escalation designs with innovative approaches to identify meaningful clinical endpoints and establish durability.

Looking ahead: what the future could hold

Dr. Qamar is optimistic about the next decade of ophthalmic gene therapy. She envisions a world where early diagnosis and gene-agnostic platforms make blindness preventable for millions. If therapies like OCU400 and OCU410 reach the finish line, they could offer one-time, lifelong treatment for patients with no other options.

Outside of work, she remains deeply committed to service. As a certified medical interpreter in six languages, she supports immigrant and refugee communities through emergency care, translation, and early childhood intervention. It’s all part of her broader vision to drive impact through both science and humanity.

Listen to the full episode below.