Research Interests


We study zebrafish development with a goal of understanding human neural disorders, retinal birth defects, and coloboma. We are also pursuing new methods of genome engineering using CRISPR nucleases.


More than 180 million people throughout the world are visually impaired. Of these, 45 million are blind. Our research focuses on finding the genetic causes of two blinding disorders, coloboma and Leber’s Congenital Amaurosis. Coloboma is a congenital anomaly that occurs when an embryonic fissure located in the ventral/inferior portion of the eye fails to close. Our research on coloboma has highlighted the importance of BMP signaling as well as the role for WNTs. We are currently generating new zebrafish models of coloboma, with a goal of establishing a comprehensive pathway linking regulators of eye morphogenesis to causality of human disease.

Separately, we have been investigating Leber’s Congenital Amaurosis (LCA), which is an early onset retinal dystrophy. We have demonstrated that alterations to BMP signaling can cause LCA or the related disorder juvenile retinitis pigmentosa. Current research aims to determine whether BMP signaling functions to regulate survival, cell differentiation, or maturation of photoreceptors.

Brain Ventricle Morphogenesis:

During embryonic development, the vertebrate brain forms a ventricle (lumen), which functions as a secondary circulatory system. Studied from times of ancient Greece, the brain ventricle performs an essential function. Indeed, patients with altered brain ventricle size (e.g., hydrocephaly) are prone to neurodevelopmental disorders, such as ADHD, Autism, and Schizophrenia. Our research goal is to identify the cell signaling pathways that regulate brain ventricle formation and expansion. Such research currently focuses on Hippo, Notch, and Wnt pathways.

Retinoic Acid in sensory organ development:

Retinoic acid (RA), a derivative of vitamin A is a vitally important morphogen during embryonic development. The importance of RA is highlighted by the prevalence of ocular birth defects in regions of the world with high incidence of vitamin A deficiency. Our goal is to define the role of RA in both ocular and otic development, hoping to understand its role as a regulator of photoreceptor cell fate as well as functions regarding the establishment of the inner ear vestibular system.

CRISPR Nucleases:

One of the most important methods of studying human disease is to create an animal model that has a mutation in a disease-causing locus. We are working to develop techniques to create zebrafish knockouts. We are using CRISPR technology to induce double strand breaks in genes of interest. Current efforts include developing techniques for gene replacement as a means of repairing genetic lesions.