The research of Lihua Y. Marmorstein, Ph.D., focuses on understanding the cause of, and identifying treatments for, macular degeneration. Of particular interest is the pathogenesis of drusen and other subretinal pigment epithelium deposits associated with early stages of macular degeneration.
Dr. Marmorstein researches how drusen form by studying the inherited macular degenerative disease malattia leventinese, also called Doyne's honeycomb retinal dystrophy. This disease is characterized by the presence of drusen at an early age. She uses both mouse models and induced pluripotent stem cells to study the roles of the disease-causing gene EFEMP1 and to test strategies in preventing or regressing drusen formation, with the goal of treating macular degeneration.
- Investigating whether EFEMP1 inhibits the turnover of basement membrane to cause drusen formation, and identifying agents that antagonize EFEMP1's activity and testing their effects in preventing or regressing drusen and treating macular degeneration
- Studying the relationship of plasma membranous debris deposition and drusen formation and the roles of faulty cellular degradative pathways, such as autophagy, in the development of drusen and the pathogenesis of macular degeneration
- Generating retinal pigment epithelium cells from induced pluripotent stem cells obtained from macular degeneration patients, genetically modifying the EFEMP1 gene to study its effects on drusen formation, and transplanting the modified cells back into patients' eyes
Significance to patient care
By understanding how drusen, early hallmarks of macular degeneration, develop and how EFEMP1 affects drusen formation, Dr. Marmorstein hopes to find a means to prevent or regress drusen development. This would significantly delay or prevent loss of vision in patients with inherited or age-related macular degeneration.
Dr. Marmorstein also hopes to preserve or improve patients' vision by transplanting modified retinal pigment epithelium cells from patients' induced pluripotent stem cells back into their own eyes.