Developmental Mechanisms

Developmental time course and treatment of early onset retinal degenerations
Leber’s congenital amaurosis (LCA) comprises a group of genetic defects causing blindness from birth or in early childhood.  A rare form (RPE65) is now being treated in clinical trials with gene therapy.  How does its time course compare to the most common form (CEP290), and can we slow either form with similar treatments, or with stem cell transplantation?  Is there a “critical period” for instituting effective treatment? We investigate these questions using multielectrode recording in mouse models of these two genetic forms of LCA.

Evaluation of gene therapy and stem cell transplantation
In collaboration with other University of Iowa laboratories within and outside the IVR, we are helping to evaluate various approaches to gene therapy of LCA (caused by Cep290 or Rpe65 mutations), juvenile neuronal ceroid lipofuscinosis (JNCL, or Batten’s disease), and spinocerebellar ataxia type 7 (SCA-7). In parallel, we are helping to evaluate the use of induced pluripotent stem cell (iPSC) transplantation to restore photoreceptor function in some of these disorders.