In our hearing and deafness research, we are interested in identifying and characterizing genes involved in the biology of hearing that when mutated underlie heritable deafness.
My laboratory identified COCH in the human deafness and vestibular disorder DFNA9 and has pursued various studies including development of a mouse model to address an understanding of the role of COCH in the pathobiology of DFNA9. We created a human fetal cochlear cDNA library from which a collection of cochlear ESTs was made available publicly for gene discovery efforts.
In addition to investigations of cochlear genes from this library we have also annotated hearing genes in the human genome by identifying genes disrupted or dysregulated at chromosomal breakpoints in individuals with hearing loss.
Current research includes the study of copy number variants etiologic in human deafness, genome wide association studies for presbycusis, and our latest project, SEQaBOO (SEQuencing a Baby for an Optimal Outcome), where we hope to translate high-throughput genomic approaches into routine newborn screening for hearing loss, with an overarching goal of offering better and timelier treatment options for babies born with hearing loss.