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Our laboratory identifies and characterizes genes that control visual and auditory sense in mammals. We do this by conducting molecular genetics studies of individuals with Usher syndrome (USH), a condition that is the most frequent cause of deafness accompanied by blindness (defined by a bilateral sensorineural deafness that originates in the cochlea and loss of vision due to retinitis pigmentosa). The study of USH may help us understand, on a molecular level, the developmental and functional similarities between retinal and cochlear sensory cells.
Our lab uses molecular biologic and genetic approaches, human, zebrafish and mouse models, and heterologous cell culture expression systems to conduct our research.
Molecular Genetics of Usher Syndrome Type I. NIH 4R00DC009287-02. 08/01/2009-07/31/2012.
Career Development Award, Foundation for Research in Preventing Blindness. 07/01/2010-06/30/2014.
Cincinnati Children’s Board of Trustee Grant. 01/01/2011-12/31/2012.
USH type 1 (USH1) is genetically heterogeneous – it can be caused by any one of several genes. Read more about our work to identify additional genes that may cause this disease.
Mutant alleles of PCDH15 are known to cause either combined hearing loss and speech impairment or nonsyndromic deafness. Our research explores the role of protocadherin 15.
LRTOMT is a human gene that exhibits transcription mediated gene fusion and has dual reading frames. Our research focuses on identifying the role – or roles – played by this fusion gene.
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