Richard J Smith


Affiliation: University of Iowa
Country: USA


  1. Ranum P, Goodwin A, Yoshimura H, Kolbe D, Walls W, Koh J, et al. Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing. Cell Rep. 2019;26:3160-3171.e3 pubmed publisher
    ..This refined view of transcription in the organ of Corti improves our understanding of the biology of hearing and deafness. ..
  2. Smith R, Appel G, Blom A, Cook H, D Agati V, Fakhouri F, et al. C3 glomerulopathy - understanding a rare complement-driven renal disease. Nat Rev Nephrol. 2019;15:129-143 pubmed publisher
    ..Clinical trials are underway to test the efficacy of several first-generation drugs that target the alternative complement pathway. ..
  3. Yoshimura H, Shibata S, Ranum P, Moteki H, Smith R. Targeted Allele Suppression Prevents Progressive Hearing Loss in the Mature Murine Model of Human TMC1 Deafness. Mol Ther. 2019;27:681-690 pubmed publisher
    ..The ability to study gene therapy in mature murine ears constitutes a significant step toward its translation to human subjects. ..
  4. Bu F, Zhang Y, Wang K, Borsa N, Jones M, Taylor A, et al. Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome. J Am Soc Nephrol. 2018;29:2809-2819 pubmed publisher
    ..Patients with aHUS are not enriched for multiple rare variants in complement genes. In aggregate, these data may help in directing clinical management of aHUS. ..
  5. Smith R, Harris C, Pickering M. Dense deposit disease. Mol Immunol. 2011;48:1604-10 pubmed publisher
    ..As advances are made in these areas, there will be a need to increase healthcare provider awareness of DDD by making resources available to clinicians to optimize care for DDD patients. ..
  6. Shearer A, Tejani V, Brown C, Abbas P, Hansen M, Gantz B, et al. In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function. Sci Rep. 2018;8:14165 pubmed publisher
    ..While ECochG as a clinical and research tool has been around for decades, this study illustrates a new application of ECochG in the study of genetic hearing and deafness in vivo. ..
  7. Azaiez H, Booth K, Ephraim S, Crone B, Black Ziegelbein E, Marini R, et al. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. Am J Hum Genet. 2018;103:484-497 pubmed publisher
  8. Zhang Y, Nester C, Martin B, Skjoedt M, Meyer N, Shao D, et al. Defining the complement biomarker profile of C3 glomerulopathy. Clin J Am Soc Nephrol. 2014;9:1876-82 pubmed publisher
    ..Complement biomarkers are significantly abnormal in patients with C3G compared with controls. These data substantiate the link between complement dysregulation and C3G and identify C3G interdisease differences. ..
  9. request reprint
    Brookes J, Kanis A, Tan L, Tranebjaerg L, Vore A, Smith R. Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome. Int J Pediatr Otorhinolaryngol. 2008;72:121-6 pubmed
    ..Further investigation is required to determine the efficacy of cochlear implantation in this patient population. DDON syndrome should be considered in patients with X-linked agammaglobulinemia and hearing loss. ..

More Information


  1. Nester C, Barbour T, de Cordoba S, Dragon Durey M, Fremeaux Bacchi V, Goodship T, et al. Atypical aHUS: State of the art. Mol Immunol. 2015;67:31-42 pubmed publisher
    ..Many questions remain to be addressed if additional improvements in patient care and outcome are to be achieved in the coming decade. ..
  2. Bu F, Borsa N, Jones M, Takanami E, Nishimura C, Hauer J, et al. High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies. J Am Soc Nephrol. 2016;27:1245-53 pubmed publisher
    ..In summary, we were able to provide a positive genetic diagnosis in 43% and 41% of patients carrying the clinical diagnosis of C3G and TMA, respectively. ..
  3. Zhang Y, Shao D, Ricklin D, Hilkin B, Nester C, Lambris J, et al. Compstatin analog Cp40 inhibits complement dysregulation in vitro in C3 glomerulopathy. Immunobiology. 2015;220:993-8 pubmed publisher
    ..In aggregate, these data suggest that Cp40 may offer a novel and promising therapeutic option to C3G patients as a disease-specific, targeted therapy. As such, Cp40 could represent a major advance in the treatment of this disease. ..
  4. Shearer A, Smith R. Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care. Otolaryngol Head Neck Surg. 2015;153:175-82 pubmed publisher
    ..Comprehensive genetic testing has become the new standard of care for genetic testing for patients with sensorineural hearing loss. ..
  5. Shearer A, Eppsteiner R, Booth K, Ephraim S, Gurrola J, Simpson A, et al. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. Am J Hum Genet. 2014;95:445-53 pubmed publisher
    ..The proposed MAF thresholds will facilitate clinical interpretation of variants identified in genetic testing for NSHL. All data are publicly available to facilitate interpretation of genetic variants causing deafness. ..
  6. Smith M, Zimmerman M, Burke D, Bauman N, Sato Y, Smith R. Efficacy and safety of OK-432 immunotherapy of lymphatic malformations. Laryngoscope. 2009;119:107-15 pubmed publisher
    ..001) and has a lower morbidity (P < .001). OK-432 immunotherapy is an effective, safe, and simple treatment option for the management of macrocystic cervicofacial LM. Identifier: NCT00010452. ..
  7. Yoshimura H, Shibata S, Ranum P, Smith R. Enhanced viral-mediated cochlear gene delivery in adult mice by combining canal fenestration with round window membrane inoculation. Sci Rep. 2018;8:2980 pubmed publisher
    ..This approach is safe, versatile and efficient. Its use will facilitate studies using cochlear gene therapy in murine models of hearing loss over a wide range of time points. ..
  8. Shearer A, Eppsteiner R, Frees K, Tejani V, Sloan Heggen C, Brown C, et al. Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance. Hear Res. 2017;348:138-142 pubmed publisher
    ..The method presented here should serve as a guide for further research into the molecular physiology of the peripheral auditory system and cochlear implants. ..
  9. Shibata S, Ranum P, Moteki H, Pan B, Goodwin A, Goodman S, et al. RNA Interference Prevents Autosomal-Dominant Hearing Loss. Am J Hum Genet. 2016;98:1101-1113 pubmed publisher
    ..Given that most autosomal-dominant non-syndromic hearing loss in humans is caused by this mechanism of action, microRNA-based therapeutics might be broadly applicable as a therapy for this type of deafness. ..
  10. Mastellos D, Reis E, Ricklin D, Smith R, Lambris J. Complement C3-Targeted Therapy: Replacing Long-Held Assertions with Evidence-Based Discovery. Trends Immunol. 2017;38:383-394 pubmed publisher
    ..Using C3G as a paradigm, we argue that concerns about the feasibility of long-term C3 intervention need to be placed into perspective and weighed against actual therapeutic outcomes in prospective clinical trials. ..
  11. Goodship T, Cook H, Fakhouri F, Fervenza F, Frémeaux Bacchi V, Kavanagh D, et al. Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2017;91:539-551 pubmed publisher
    ..Knowledge gaps were identified and a prioritized research agenda was proposed to resolve outstanding controversial issues. ..
  12. Nester C, Smith R. Complement inhibition in C3 glomerulopathy. Semin Immunol. 2016;28:241-9 pubmed publisher
    ..Research advances are laying the foundation for complement inhibition as a targeted approach to treatment of C3G. ..
  13. Sloan Heggen C, Bierer A, Shearer A, Kolbe D, Nishimura C, Frees K, et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016;135:441-450 pubmed publisher
    ..The spectrum of implicated genes showed wide ethnic variability. These findings support the more efficient utilization of medical resources through the development of evidence-based algorithms for the diagnosis of hearing loss. ..
  14. Taylor K, Booth K, Azaiez H, Sloan C, Kolbe D, Glanz E, et al. Audioprofile Surfaces: The 21st Century Audiogram. Ann Otol Rhinol Laryngol. 2016;125:361-8 pubmed publisher
    ..Audioprofile surfaces will support the generation and testing of sophisticated hypotheses to further refine our understanding of the biology of hearing. ..
  15. Zhang Y, Meyer N, Fervenza F, Lau W, Keenan A, Cara Fuentes G, et al. C4 Nephritic Factors in C3 Glomerulopathy: A Case Series. Am J Kidney Dis. 2017;70:834-843 pubmed publisher
  16. Shibata S, Yoshimura H, Ranum P, Goodwin A, Smith R. Intravenous rAAV2/9 injection for murine cochlear gene delivery. Sci Rep. 2017;7:9609 pubmed publisher
    ..Collectively, these data validate intravenous delivery of rAAV2/9 as a novel and atraumatic technique for inner ear transgene delivery in early postnatal mice. ..
  17. Xiao X, Ghossein C, Tortajada A, Zhang Y, Meyer N, Jones M, et al. Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene. Mol Immunol. 2016;77:89-96 pubmed publisher
    ..These data highlight the role of factor H related proteins in the control of complement activity and illustrate how perturbation of that control leads to C3G. ..
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    Smith R, Robin N. Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafness. J Commun Disord. 2002;35:367-77 pubmed
    ..It is also essential for physicians and audiologists to understand the limitations of genetic testing for deafness, and it is imperative that these limitations be appropriately explained to patients and their families...
  19. Smith R, Alexander J, Barlow P, Botto M, Cassavant T, Cook H, et al. New approaches to the treatment of dense deposit disease. J Am Soc Nephrol. 2007;18:2447-56 pubmed
    ..As the understanding of DDD increases, novel therapies should be integrated into existing protocols for DDD and evaluated using an open-label Bayesian study design...
  20. request reprint
    Smith R, Hone S. Genetic screening for deafness. Pediatr Clin North Am. 2003;50:315-29 pubmed