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Richard Smith, MD


Office: 21151-A PFP
Office Phone: 319-356-3612

Lab: 5072 CBRB

Lab Website: https://morl.lab.uiowa.edu/

Genetic hearing loss and complement-mediated renal disease

The Molecular Otolaryngology and Renal Research Laboratories (MORL) is world recognized for its work on genetic hearing loss and complement-mediated renal diseases. It has Clinical Diagnostics and Basic Research Divisions. The Clinical Diagnostics Division (CDD) was CLIA certified in 1999 (ID #16D0966193) and accredited by the Joint Commission on Accreditation of Healthcare Organizations in 2001. It is recertified very two years. In the area of hearing loss, the CDD pioneered the application of massively parallel sequencing technology for the clinical diagnosis of hereditary deafness thereby changing the evaluation of the deaf person by making comprehensive genetic testing the most useful diagnostic test to obtain in the evaluation of hearing loss (PMID: 21078986; PMID: 26969326). In the area of ultra-rare complement-mediated renal diseases, the CDD provides functional and genetic testing of the complement cascade (PMID: 25341722; PMID: 26283675). This type of clinical testing is critical to the care of patients with many complement-mediated renal diseases, including the C3 glomerulopathies and atypical hemolytic uremic syndrome. The Basic Research Division (BRD) of the MORL has made many significant contributions to our understanding of the biology of hearing by mapping 19% of all known non-syndromic hearing loss loci, cloning 22% of all genes implicated in deafness, refining our understanding of cochlear function by single cell RNAseq (PMID: 30865901), defining the mutational landscape and genomic signature of deafness-associated genes (PMID: 30245029), and completing pioneer work on gene therapy for hearing loss (PMID: 27236922; PMID: 30686588). In the area of complement-mediated renal diseases, scientists in the MORL have identified new genetic causes of atypical hemolytic uremic syndrome (PMID: 30377230), refined our understanding of the underlying mechanisms of C3 glomerulopathies (PMID: 32376801) and atypical hemolytic uremic syndrome (PMID: 32540405), and tested many different novel anticomplement drugs (PMID: 25982307; PMID: 23907509; PMID: 30926668). In addition, the MORL maintains the largest database of patients with atypical hemolytic uremic syndrome in North America and the largest C3 glomerulopathy database in the world.

PubMed link

Department/Program Affiliations:
Anatomy and Cell Biology
Internal Medicine
Molecular Physiology and Biophysics