Bio

Professional Education


  • Bachelor of Science, Ball State University (2005)
  • Doctor of Philosophy, University of Iowa (2011)

Stanford Advisors


Publications

All Publications


  • Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. Journal of medical genetics Zong, L., Guan, J., Ealy, M., Zhang, Q., Wang, D., Wang, H., Zhao, Y., Shen, Z., Campbell, C. A., Wang, F., Yang, J., Sun, W., Lan, L., Ding, D., Xie, L., Qi, Y., Lou, X., Huang, X., Shi, Q., Chang, S., Xiong, W., Yin, Z., Yu, N., Zhao, H., Wang, J., Wang, J., Salvi, R. J., Petit, C., Smith, R. J., Wang, Q. 2015; 52 (8): 523-531

    Abstract

    Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. For many cases of ANSD, the underlying molecular pathology and the site of lesion remain unclear. The X-linked form of the condition, AUNX1, has been mapped to Xq23-q27.3, although the causative gene has yet to be identified.We performed whole-exome sequencing on DNA samples from the AUNX1 family and another small phenotypically similar but unrelated ANSD family.We identified two missense mutations in AIFM1 in these families: c.1352G>A (p.R451Q) in the AUNX1 family and c.1030C>T (p.L344F) in the second ANSD family. Mutation screening in a large cohort of 3 additional unrelated families and 93 sporadic cases with ANSD identified 9 more missense mutations in AIFM1. Bioinformatics analysis and expression studies support this gene as being causative of ANSD.Variants in AIFM1 gene are a common cause of familial and sporadic ANSD and provide insight into the expanded spectrum of AIFM1-associated diseases. The finding of cochlear nerve hypoplasia in some patients was AIFM1-related ANSD implies that MRI may be of value in localising the site of lesion and suggests that cochlea implantation in these patients may have limited success.

    View details for DOI 10.1136/jmedgenet-2014-102961

    View details for PubMedID 25986071

  • Inner Ear Hair Cell-Like Cells from Human Embryonic Stem Cells STEM CELLS AND DEVELOPMENT Ronaghi, M., Nasr, M., Ealy, M., Durruthy-Durruthy, R., Waldhaus, J., Diaz, G. H., Joubert, L., Oshima, K., Heller, S. 2014; 23 (11): 1275-1284

    Abstract

    In mammals, the permanence of many forms of hearing loss is the result of the inner ear's inability to replace lost sensory hair cells. Here, we apply a differentiation strategy to human embryonic stem cells into cells of the otic lineage using chemically-defined attached-substrate conditions. Generation of human otic progenitor cells was dependent on FGF signaling and protracted culture led to the upregulation of markers indicative of differentiated inner ear sensory epithelia. Using a transgenic embryonic stem cell reporter line based on a murine Atoh1 enhancer, we show that differentiated hair cell-like cells express multiple hair cell markers simultaneously. Hair cell-like cells displayed protrusions reminiscent of stereociliary bundles, but failed to fully mature into cells with typical hair cell cytoarchitecture. We conclude that optimized defined conditions can be used in vitro to attain otic progenitor specification and sensory cell differentiation.

    View details for DOI 10.1089/scd.2014.0033

    View details for Web of Science ID 000336959800011

    View details for PubMedID 24512547

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