Richard Smith, M.D. (Full Member)
Professor, Department of Pediatric Otolaryngology, University of Iowa

http://www.uihealthcare.com/depts/med/otolaryngology/faculty/smithrich.html

Research Interest    

The Smith laboratory studies the genetic basis of deafness and membranoproliferative glomerulonephritis type 2 (MPGN 2). Projects include gene localization by linkage analysis and homozygosity mapping, mutation screening and detection, a variety of functional studies, and hearing-related research on mouse mutants targeting specific genes by RNAi. Membranoproliferative glomerulonephritis type 2 is also called Dense Deposit Disease (MPGN II/DDD). It causes chronic renal dysfunction that leads to kidney failure and a retinal disease similar to age-related macular degeneration, which is the most common cause of blindness in the elderly. Deficiency of and mutations in complement Factor H (CFH) are associated with development of MPGN II/DDD. Changes in CFH are also associated with another renal disease, atypical hemolytic uremic syndrome, and with age-related macular degeneration. The Smith group is studying relationships between the alternative pathway of the complement cascade, the structure of the glomerular basement membrane, and MPGN II/DDD to better understand the pathophysiology of this disease. The group is actively applying gene- and cell-based strategies to treat these genetics disorders of the eye and kidney.

Selected Publications:

Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJH Sensorineural Deafness and Male Infertility ? A Contiguous Gene Deletion Syndrome. J Med Genet 44:233-40, 2007.

Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerbäck S, Smith RJH. Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Non-syndromic Enlargement of Vestibular Aqueduct (DFNB4). Am J Hum Genet 2007 80:1055-63, 2007.

Maeda Y, Fukushima K, Nishizaki K, Smith RJH. Cochlear expression of a dominant-negative GJB2R75W construct delivered through the round window membrane in mice. J Neurosci Res 2007 Mar 24.

Abrera-Abeleda MA, Xu Y, Pickering MC, Smith RJH, Sethi S. Mesangial immune complex glomerulonephritis due to complement factor D deficiency. Kidney Inter 71:1142-1147, 2007.

Hildebrand, M.S., Newton, S.S., Gubbels, S.P., Sheffield, A.M., Kochhar, A., de Silva, M.G., Dahl, H.H., Rose, S.D., Behlke, M.A., and Smith, R.J. 2008. Advances in molecular and cellular therapies for hearing loss. Mol Ther 16:224-236.

Publications from PubMed