Lab
Westerfield Lab
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Statement of Research Interest
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 thank the Usher 1F Collaborative,, the Usher Syndrome Society, and Usher Syndroom who also generously support us. Contribute to our Usher Syndrome Research Fund.
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 thank the Usher 1F Collaborative,, the Usher Syndrome Society, and Usher Syndroom who also generously support us. Contribute to our Usher Syndrome Research Fund.
Lab Members
Blanco, Bernardo Post-Doc | Clément, Aurélie Post-Doc | Phillips, Jennifer Post-Doc |
Peirce, Judy Research Staff | Wegner, Jeremy Research Staff |
- Bradford, Y.M., Van Slyke, C.E., Muyskens, J.B., Tseng, W.C., Howe, D.G., Fashena, D., Martin, R., Paddock, H., Pich, C., Ramachandran, S., Ruzicka, L., Singer, A., Taylor, R., Westerfield, M. (2025) ZFIN Updates to Support Zebrafish Environmental Exposure Data. Genetics. :
- Alliance of Genome Resources Consortium (2024) Updates to the Alliance of Genome Resources Central Infrastructure. Genetics. 227(1):
- Bradford, Y.M., Van Slyke, C.E., Howe, D.G., Fashena, D., Frazer, K., Martin, R., Paddock, H., Pich, C., Ramachandran, S., Ruzicka, L., Singer, A., Taylor, R., Tseng, W.C., Westerfield, M. (2023) From Multi-Allele Fish to Non-Standard Environments, How ZFIN Assigns Phenotypes, Human Disease Models, and Gene Expression Annotations to Genes. Genetics. 224(1):
- Alliance of Genome Resources Consortium (2022) Harmonizing model organism data in the Alliance of Genome Resources. Genetics. 220(4):
- Baranasic, D., Hörtenhuber, M., Balwierz, P.J., Zehnder, T., Mukarram, A.K., Nepal, C., Várnai, C., Hadzhiev, Y., Jimenez-Gonzalez, A., Li, N., Wragg, J., D'Orazio, F.M., Relic, D., Pachkov, M., Díaz, N., Hernández-Rodríguez, B., Chen, Z., Stoiber, M., Dong, M., Stevens, I., Ross, S.E., Eagle, A., Martin, R., Obasaju, O., Rastegar, S., McGarvey, A.C., Kopp, W., Chambers, E., Wang, D., Kim, H.R., Acemel, R.D., Naranjo, S., Łapiński, M., Chong, V., Mathavan, S., Peers, B., Sauka-Spengler, T., Vingron, M., Carninci, P., Ohler, U., Lacadie, S.A., Burgess, S.M., Winata, C., van Eeden, F., Vaquerizas, J.M., Gómez-Skarmeta, J.L., Onichtchouk, D., Brown, B.J., Bogdanovic, O., van Nimwegen, E., Westerfield, M., Wardle, F.C., Daub, C.O., Lenhard, B., Müller, F. (2022) Multiomic atlas with functional stratification and developmental dynamics of zebrafish cis-regulatory elements. Nature Genetics. 54(7):1037-1050
- Bradford, Y.M., Van Slyke, C.E., Ruzicka, L., Singer, A., Eagle, A., Fashena, D., Howe, D.G., Frazer, K., Martin, R., Paddock, H., Pich, C., Ramachandran, S., Westerfield, M. (2022) Zebrafish Information Network, the knowledgebase for Danio rerio research. Genetics. 220(4):
- Schellens, R.T.W., Slijkerman, R.W.N., Hetterschijt, L., Peters, T., Broekman, S., Clemént, A., Westerfield, M., Phillips, J.B., Boldt, K., Kremer, H., De Vrieze, E., Van Wijk, E. (2022) Affinity purification of in vivo assembled whirlin-associated protein complexes from the zebrafish retina. Journal of proteomics. 266:104666
- Ravenscroft, T.A., Phillips, J.B., Fieg, E., Bajikar, S.S., Peirce, J., Wegner, J., Luna, A.A., Fox, E.J., Yan, Y.L., Rosenfeld, J.A., Zirin, J., Kanca, O., Undiagnosed Diseases Network, Benke, P.J., Cameron, E.S., Strehlow, V., Platzer, K., Jamra, R.A., Klöckner, C., Osmond, M., Licata, T., Rojas, S., Dyment, D., Chong, J.S.C., Lincoln, S., Stoler, J.M., Postlethwait, J.H., Wangler, M.F., Yamamoto, S., Krier, J., Westerfield, M., Bellen, H.J. (2021) Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genetics in medicine : official journal of the American College of Medical Genetics. 23(10):1889-1900
- Yan, Y.L., Titus, T., Desvignes, T., BreMiller, R., Batzel, P., Sydes, J., Farnsworth, D., Dillon, D., Wegner, J., Phillips, J.B., Peirce, J., Dowd, J., Undiagnosed Diseases Network, Buck, C.L., Miller, A., Westerfield, M., Postlethwait, J.H. (2021) Erratum to: A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs. Genetics. 218(1)
- Yan, Y.L., Titus, T., Desvignes, T., BreMiller, R., Batzel, P., Sydes, J., Farnsworth, D., Dillon, D., Wegner, J., Phillips, J.B., Peirce, J., Dowd, J., Undiagnosed Diseases Network, Buck, C.L., Miller, A., Westerfield, M., Postlethwait, J.H. (2021) A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs. Genetics. 217(2)
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