Westerfield Lab Contact Info
Contact Person: Judy Peirce
Leyla Bayraktaroglu, Scientific Curator
Yvonne Bradford, Scientific Curator
Madison Cheek, Curator
Anne Eagle, Project Manager
David Fashena, Scientific Curator
Ken Frazer, Scientific Curator
Doug Howe, Curation Manager
Ashley Hughes, Curator
Patrick Kalita, Software Engineer
Jonathan Knight, Adminstrative Assistant
Ryan Martin, System Administrator
Prita Mani, Software Engineer
Sierra Moxon, Database AdministratorChristian Pich, Software Engineer
Sridhar Ramachandran, Scientific Curator
Kevin Schaper, Software Engineer
Holle Schaper, Adminstrative Assistant
Xiang Shao, Software Engineer
Amy Singer, Scientific Curator
Sabrina Toro, Research Associate
Ceri Van Slyke, Scientific Curator
Zebrafish International Resource Center:
Justin Bauer, Fish Facility Staff
Renee Clark, Fish Facility Staff
Keely Core, Fish Facility Staff
April Freeman, Administrative Staff
Gordon Hennesy, Technical Staff
Ron Holland, Database Administrator
Jen-Jen Hwang-Shum, Research Associate
Michael Kent, Professor
Evyn Loucks, Fish Facility Staff
David Lains , 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
Tangoing through the gene pool
Don't drink the water
Free the zebrafish!
Take them to Amazon Creek
We need more field trips
- 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.
- Köhler et al. (2014). The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nuc. Acid Res. 42, D966-74.
- Howe, K., et al. (2013). The zebrafish reference genome sequence and its relationship to the human genome. Nature 496, 498-503.
- Köhler, S., et al. (2013). Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research. F1000 Research, 2, 30.
- 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