Professor, Department of Biology
Ph.D. Duke University
A.B. Princeton Univeristy
Research Interests: Molecular genetic basis of human diseases; ear and eye development and pathogenesis.
Overview: 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 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.
SOME RECENT PUBLICATIONS
- 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.
- 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.
- Deans, A. R., et al. (2015). Finding Our Way through Phenotypes. PLoS Biology, 13(1), e1002033.
- Phillips, J. B., & Westerfield, M. (2014). Zebrafish models in translational research: tipping the scales toward advancements in human health. Dis Mod Mech, 7(7), 739 743.
- 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(5), 547-559.
- Beck, B.B., et al. (2014). Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mut, 35(10), 1153-62.
- Howe, K., et al. (2013). The zebrafish reference genome sequence and its relationship to the human genome. Nature, 496, 498-503.
- 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.