Westerfield Lab Contact Info
Joe Culbert, Student
Leyla Bayraktaroglu, Scientific Curator
Prita Mani, Software Engineer
|Zebrafish International Resource Center:
Justin Bauer, Fish Facility Staff
Jen Matthews, Fish Facility Staff
Our laboratory studies the molecular genetic basis of human diseases, particularly Usher syndrome, the leading cause of combined deafness and blindness, as well as 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 provide a better understanding of the mechanisms that regulate the establishment of specific neuronal cell fates during normal development and what goes wrong during disease.
Current research focuses on models of human disease. In particular, we are making and studying models of Usher syndrome, the leading cause of deafblindness.
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, and the Office of the Director of the National Institutes of Health. We also thank the Megan Foundation, Vision for a Cure, The Usher 1F Collaborative, and The Gary Shapiro Memorial Fund for generous donations to the Usher Syndrome Research Fund that supports our work.
Contribute to the Usher Syndrome Research Fund.
Lab Haikus from annual Institute retreats:
Mutant hunt is fun
Free the zebrafish!
- Burrage, L. C. 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-Sánchez, J. L. Peirce, 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 Reports. 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.
- Blanco-Sanchez, B., A. Clement, J.B. Phillips, and M. Westerfield. (2017). Zebrafish models of human eye and inner ear diseases. Meth Cell Biol, 138, 415-467.
- Li, T., J. Fan, B. Blanco-Sanchez, N. Giagtzoglou, G. Lin, S. Yamamoto, M. Jaiswal, et al. (2016). Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination. PLoS Genet, 12(5), e1006054.
- Elsayed, S.M., J.B. Phillips, R. Heller, M. Thoenes, E. Elsobky, G. Nurnberg, P. Nurnberg, et al. (2015). Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Hum. Mol. Genet., 24(9), 2594-603.
- Beck, B.B., et al. (2014). Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum. Mutat. 35(10), 1153-62.
- Blanco-Sánchez, et al. (2014). Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis. Dis. Mod. Mech 7, 547-559.
- Phillips, J.B., et al. (2013). The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A. Gene Exp. Patt.13, 473-481.
- Howe, K., et al. (2013). The zebrafish reference genome sequence and its relationship to the human genome. Nature 496, 498-503.
- Doelken, S.C., et al. (2013). Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis. Mod. Mech. 6, 358-372.
- Phillips, J.B., et al. (2011). Harmonin (Ush1c) is required in zebrafish Muller glial cells for photoreceptor synaptic development and function. Dis. Mod. Mech. 4, 786-800.
- Ebermann, I., et al. (2010). PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J. Clin. Invest. 120, 1812-23.
- Washington, N.L., et al. (2009). Linking human diseases to animal models using ontology-based phenotype annotation. PLoS Bio. 7, e1000247.
The Coalition for Usher Syndrome Research
Usher syndrome registry
The Usher 1F Collaborative
Hear See Hope - Usher syndrome: Hope for a cure
The Foundation Fighting Blindness
Association for Research in Vision and Opthalmology
ZFIN (the zebrafish information network) - the zebrafish model organism database.
The Zebrafish International Resource Center