A.B. Physics and Biology, Princeton University
Our laboratory studies the molecular genetic basis of human diseases, particularly Usher syndrome, the leading cause of combined deafness and blindess, and other diseases of the eye and ear.
We use zebrafish and a combination of anatomical, physiological, molecular, and genetic techniques. The goal of our research is to identify disease-causing genes, to elucidate what goes wrong during disease, and to develop preclinical trials for new therapies.
Current research focuses on developing models of human disease. In particular, we are making and studying models of Usher syndrome.
Our research is funded by the National Eye Institute, the National Institute on Deafness and Other Communicative Disorders, the National Institute of Child Health and Development, the National Human Genome Research Institute, and the Office of the Director of the National Institutes of Health. We also thank the The Usher 1F Collaborative and the Usher Syndrome Society for generous donations to the Usher Syndrome Research Fund that supports our work.
Contribute to the Usher Syndrome Research Fund.
- Schellens, R.T.W., et al., (2022). Affinity purification of in vivo assembled whirlin-associated protein complexes from the zebrafish retina. J Proteomics, 266, 104666.
- Baranasic, D., et al., (2022). Multiomic atlas with functional stratification and developmental dynamics of zebrafish cis-regulatory elements. Nat Genet, 2022. 54(7), 1037-1050.
- Ravenscroft, T.A., et al., (2021). Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med, 23(10), 889-1900.
- Blanco-Sanchez, B., A. Clement, S.J. Stednitz, J. Kyle, et al., (2020). yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. PLoS Genet, 16(6) e1008841.
- Burrage et al. (2019). Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Gen, 104, 422-438.
- Clément, A., B. Blanco Sanchéz, J. Pierce, and M. Westerfield. (2019). Cog4 is required for protrusion and extension of the epithelium in the developing semicircular canals. Mech Dev, 155, 1-7.
- Blanco-Sanchez, B., A. Clement, J. Fierro Jr., S. Stednitz, J. Phillips, J. Wegner, J.M. Panlilio, et al. (2018). Grxcr1 promotes hair bundle development by destabilizing the physical interaction between Harmonin and Sans Usher syndrome proteins. Cell Rep, 25(5), 1281-1291.
- Dona, M., R. Slijkerman, K. Lerner, S. Broekman, J. Wegner, T. Howat, T. Peters, et al. (2018). Usherin defects lead to early-onset retinal dysfunction in zebrafish. Exp Eye Res, 173, 148–159.