The Slavotinek Research Lab has focused on identifying causative genes for diverse conditions with multiple anomalies and birth defects, including congenital eye defects. We also use zebrafish as an animal model to study the effects of altered gene expression. Identifying the genetic causes of human diseases can enable genetic testing to improve patient care and is the first step in understanding the pathogenesis so that treatments can be developed.

We study the genetic causes of developmental eye defects including microphthalmia (small eyes), anophthalmia (absent eyes), coloboma (a failure of the optic fissure to close) and cataracts. To further study candidate genes and variants, we use gene editing with CRISPR/Cas9 in zebrafish as an animal model. We phenotype the fish that we generate and then use ‘bulk’ RNA-Seq and single-cell RNA-Seq to study altered gene expression in our crispant larvae. We have also worked on Manitoba-Oculo-Tricho-Anal (MOTA) syndrome, a condition with eye defects and craniofacial findings caused by loss of function for FREM1, CRB2-related syndrome comprising ventriculomegaly and hydrocephalus, nephrosis and raised alpha-fetoprotein that is caused by deleterious variants in CRB2, intellectual disability and multiple anomalies caused by pathogenic variants in PBX1, and Focal Facial Dermal Dysplasia type IV that is caused by deleterious CYP26C1 variants. We have also broadened the range of clinical findings associated with many genes.