Anthony J. Aldave Laboratory

Research Areas

Molecular genetic basis of inherited disorders of the cornea, known as the corneal dystrophies

Description

The Cornea Genetics Laboratory focuses on identifying and characterizing the molecular genetic basis of corneal dystrophies and elucidating the normal and disease biology of corneal endothelial cells.

The Laboratory employs an array of genetic analysis tools to identify causative mutations associated with inherited corneal disorders and utilizes mouse and cell-based disease models to study the pathomechanisms via which the identified mutations lead to loss of corneal clarity, and thus loss of vision. The identification and elucidation of the genetic basis of the corneal dystrophies has allowed Dr. Aldave and colleagues to develop and test molecular therapeutics approaches in these same cell-based and animal models. In 2023, the Laboratory was selected to participate in the Foundation for the NIH Accelerating Medicines Partnership® (AMP®) Bespoke Gene Therapy Consortium and received funding from the California Institute for Regeneration Medicine to perform preclinical studies of AAV gene therapy for congenital hereditary endothelial dystrophy.

The Laboratory is also involved in the characterization and optimization of ex vivo expansion of corneal endothelial cells, with the goal of transplanting the cells from one individual to multiple recipients. As it is estimated that worldwide only one donor cornea is available for every 70 that are needed, the use of expanded corneal endothelial cells to restore sight to individuals with corneal endothelial dysfunction, most commonly due to corneal endothelial dystrophies, will transform the current paradigm of one donor cornea restoring sight to only one recipient.