Roxana A. Radu, M.D.

Radu seeks to develop methods to address pressing, unmet needs in the realm of blinding diseases, for which effective therapies remain elusive. She has made significant progress in identifying novel molecular and cellular targets underpinning the pathophysiology of inherited retinal degenerative conditions including age-related macular dystrophy. 

One such breakthrough was the revelation of ABCA4 expression, a gene associated with retinal diseases, not only within photoreceptor cells but also in the retinal pigment epithelium, or RPE. This discovery disrupted conventional understandings of the pathogenesis of recessive Stargardt disease, the most prevalent maculopathy affecting children. 

Radu developed a disease-in-a-dish model of Stargardt disease using RPE cells derived via induced pluripotent stem cells from the tissue of patients with this condition. Her studies using this system have unveiled fundamental biological processes at the intersection of innate immunity, retinoid-lipid metabolism, mitochondrial bioenergetics and the endolysosomal system. These insights into intricate interplay of these pathogenic pathways have not only deepened our understanding of these diseases but also paved the way for innovative therapeutic approaches with the potential to prevent blindness.