Nicole Meyer - Kidney Disease and Hearing Loss

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The foci of my research span the two research aims of the laboratory:  hearing loss and kidney disease.  As a member of the clinical diagnostics team, I screen patients with hearing loss for mutations in GJB2 which causes nearly 50% of autosomal recessive non-syndromic deafness.

Mutations in several other genes have been found to cause hearing loss but cannot account for all of the remaining causes of deafness. I seek to localize additional genes important in the biology of hearing and deafness by studying large families that segregate either dominant or recessive deafness. By identifying these genes, we can better understand the mechanics of hearing and potentially find novel treatments for hearing loss.

Lastly, I seek to better understand kidney disease.  Mutations in the Complement Factor H and Complement Factor H Related 5 genes have been shown to be associated with two types of kidney disease:  MPGNII or Dense Deposit Disease and atypical HUS by altering the regulation of the alternative pathway of the complement immune response.  This genetic region is highly homologous suggesting that genetic rearrangements such as large deletions or duplications might occur.  We are using Mulitple Ligation Probe Amplification to detect these rearrangements in patients with kidney diseases in hopes of better understanding how changes in the copy number of these genes affects the control of the alternative pathway.