Understanding the Genetics of Age-Related Macular Degeneration: Gregory S. Hageman, PhD

“We have teams that are pushing towards both [factor H on chromosome 1 and ARMS2 and HTRA1 on chromosome 10]. And I would say we have a very robust understanding of what the disease process is what's happening in the back of the eye, we have a lot of clinical correlates, we understand that these are very much different biological diseases [that cause AMD] and the sad part is a lot of patients will have some mix of both. So down the line, we'll have to think about therapies.”

Loci in chromosome 10 and chromosome 1 have previously been identified as important in the role of developing age-related macular degeneration (AMD). Recent research into the HTRA1 and ARMS2 genes in the chromosome 10 locus have elucidated the role of these genes in developing AMD.

To learn more about the implications of these findings, GeneTherapyLive spoke with Brandi. L Williams, PhD, research director, and Gregory S. Hageman, PhD, executive director, Steele Center for Translational Medicine, both from the John A. Moran Eye Center. 

Williams and Hageman discussed the paper they recently published in PNAS which was the culmination of 15 years of research, providing some background on the Moran Center and previous research in AMD.

REFERENCE

Williams BL, Seager NA, Gardiner JD, et al. Chromosome 10q26–driven age-related macular degeneration is associated with reduced levels of HTRA1 in human retinal pigment epithelium. PNAS. 2021;118(30) e2103617118. doi:10.1073/pnas.2103617118