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A Genetic Approach to Preserving Vision

Posted on Monday, November 11, 2024

Nnana Amakiri, a Utah ARCS Scholar, is part of a family of medical professionals. His parents, immigrants from Nigeria, overcame significant challenges to establish successful careers in healthcare. His father started as a handyman before becoming a nurse and then later a doctor. His mother was also a nurse and became a nurse practitioner when he was in medical school, and his older siblings followed their parents into the medical field. So, it’s not a complete shock Amakiri did, too.

Currently an ophthalmology resident at the John A. Moran Eye Center, Dr. Amakiri is focused on researching X-linked Retinitis Pigmentosa (XLRP). XLRP is a severe inherited retinal disease that causes progressive vision loss. Diagnosed in childhood or adolescence, XLRP typically results in legal blindness by early adulthood. There is no cure for the condition, though recent advancements in gene therapy offer some hope in slowing disease progression. However, a definitive cure remains elusive.

Dr. Amakiri’s research aims to enhance understanding of XLRP’s progression, specifically by examining genetic differences within the disease. He is particularly focused on two mutations —-RPGR and RP2— that appear to influence the rate of vision loss. By studying how these mutations impact disease progression, his goal is to help others develop more personalized therapies and diagnostic approaches tailored to each patient’s unique genetic profile. This could lead to better-targeted treatments and more precise timelines for disease management.

Understanding these genetic variations is not just an academic exercise—it has real-world implications for treatment and patient care. Researchers can prioritize these individuals for clinical trials and emerging gene therapies by identifying patients more likely to lose their vision rapidly. This kind of personalized approach is critical to improving outcomes, as it allows for more strategic use of resources and optimizes treatment timing, an essential consideration given the high cost and limited availability of clinical trials.

Currently, Amakiri’s research is supported by a partnership with industries, reflecting the interest of large pharmaceutical companies in leveraging genetic research to refine clinical trials. Clinical trials are costly and time -intensive endeavors, and the ability to target the right age groups and genetic profiles is crucial to maximizing their impact. The scholar’s research provides detailed data that can help pharmaceutical companies determine the optimal timing for intervention, potentially enhancing the success rate of future trials.

Reflecting on his journey, Dr. Amakiri acknowledges the role of ARCS Foundation in enabling this research. With ARCS Foundation’s support, he gained access to high-resolution imaging tools and other essential resources that allowed him to examine subtle retinal changes in XLRP patients. Beyond the lab, the ARCS Foundation’s impact has provided invaluable professional networks and mentorship, accelerating his career and helping to elevate his work in the field of ophthalmology.