Ophthalmic Genetics Lab

Genetics of Nanophthalmos and High Hyperopia

We seek to identify novel genes and pathways in the pathogenesis of nanophthalmos, a condition characterized by small, but structurally normal eyes. We have recently identified the membrane associated transcription factor myelin regulatory factor (MYRF) as a novel gene in the pathogenesis of this condition and have identified a genetic and physical interaction with another known nanophthalmos associated gene (TMEM98). Ongoing efforts include the following:

  1. Identifying downstream targets of MYRF and screening them as possible culprits for nanophthalmos using cutting edge genomic techniques including scRNA sequencing and CUT&RUN sequencing.
  2. Defining the role of MYRF in ocular development in mice
  3. Identifying novel candidate genes for nanophthalmos from a large cohort of collected patients and families.

Genetics of Pediatric Glaucoma

We are using high-throughput sequencing approaches to identify novel candidate genes for pediatric glaucoma, including primary congenital (PCG) and juvenile open angle glaucoma (JOAG). We use a combination of traditional linkage and linkage exclusion analysis along with whole exome and whole genome sequencing to define candidate genes. These will subsequently be validated using cell culture and animal models. A sample pedigree with JOAG is shown along with whole genome linkage exclusion data.