Ophthalmology And Visual Sciences

Robert F. Mullins, MS, PhD

Portrait

Martin and Ruth Carver Chair in Ocular Cell Biology
Professor of Ophthalmology and Visual Sciences
Professor of Molecular Physiology and Biophysics, Biophysics

Contact Information

Primary Office: 4135E  MERF
Iowa City, IA 52242
Primary Office Phone: 319-335-8222

Email: robert-mullins@uiowa.edu
Web: Chorioretinal Degenerations Laboratory

Education

BS, Biology, Wheaton College
MS, Biology, Saint Louis University
PhD, Cell and Molecular Biology, Saint Louis University

Post Doctoral, Postdoctoral Fellow, Center on Aging, The University of Iowa

Education/Training Program Affiliations

Biosciences Graduate Program
Interdisciplinary Graduate Program in Genetics
Interdisciplinary Graduate Program in Molecular and Cellular Biology

Research Summary

Our laboratory's primary research interests revolve around the structural and molecular basis for degenerative diseases of the retina, with particular focus on the retinal pigment epithelium in Best disease and the choriocapillaris in age-related macular degeneration. Best disease is a relatively rare but potentially devastating form of macular degeneration. Over one hundred different mutations in the responsible gene, VMD2/bestrophin, can result in this autosomal dominant disorder. Bestrophin most likely functions as a chloride channel and thus may regulate the ionic milieu in the subretinal space. We are using both in situ approaches and in vitro approaches to understand how specific mutations affect behavior of the mutant protein and to examine the regional distribution of the bestrophin protein in normal eyes, as well as to evaluate genotype-phenotype relationships for eyes with Best disease. Age-related macular degeneration (AMD) is a common cause of blindness that affects as many as one in three elderly individuals to some degree. With the increasing median age of the population, it is widely appreciated that the impact of AMD will worsen in the coming years. Recent genetic and histopathologic studies indicate that AMD is associated with inflammation, and there is strong evidence for leukocyte extravasation in the pathogenesis of the disease; however the role of the vasculature in recruiting leukocytes during these inflammatory events is poorly understood. The choriocapillaris is the capillary bed responsible for nourishing the photoreceptor cells of the retina, and is the most likely source for recruiting leukocytes in AMD. We are interested in determining the biological changes of the choriocapillaris in eyes with macular degeneration by examining human donor tissue, as well as cell surface molecules that differ between normal and neovascular endothelial cells. In addition to ?descriptive? studies in situ, we are interested in characterizing the molecular responses of human choroidal endothelial cells (cultured from human eyes) to the types of microenvironmental pro-inflammatory challenges that occur in macular degeneration, including exposure to complement components and products of extracellular matrix protein degradation. Molecular and functional assays of human choroidal EC are performed in the presence or absence of these ?AMD microenvironment? challenges. In addition we have several active collaborations in The University of Iowa, evaluating animal models of inherited retinal diseases, and assisting other faculty in answering histological questions in the eye.

Center, Program and Institute Affiliations

Carver Family Center for Macular Degeneration
Center on Aging
Stephen A. Wynn Institute for Vision Research

Selected Publications

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Sohn E, Wang K, Thompson S, Riker M, Hoffmann J, Stone E, Mullins R.  Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration.  Retina.  2015. 35(1):48-57.
[PubMed]

Almeida D, Zhang L, Chin E, Mullins R, Kucukevcilioglu  M, Critser D, Sonka M, Stone E, Folk J, Abramoff M, Russell S.  Comparison of retinal and choriocapillaris thicknesses following sitting to supine transition in healthy individuals and patients with age-related macular degeneration.  JAMA Ophthalmol.  2015. 133(3):297-303.
[PubMed]

Whitmore S, Sohn E, Chirco K, Drack A, Stone E, Tucker B, Mullins R.  Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy.  Prog Retin Eye Res.  2015. 45C:1-29.
[PubMed]

Hazlewood R, Roos B, Solivan-Timpe F, Honkanen  R, Jampol L, Gieser S, Meyer K, Mullins R, Kuehn M, Scheetz T, Kwon Y, Alward W, Stone E, Fingert J.  Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.  Hum Mutat.  2015. 36(3):369-378.
[PubMed]

Wiley L, Burnight E, Songstad A, Drack A, Mullins R, Stone E, Tucker B.  Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases.  Prog Retin Eye Res.  2015. 44:15-35.
[PubMed]

Whitmore S, Wagner A, DeLuca A, Drack A, Stone E, Tucker B, Zheng S, Braun T, Mullins R, Scheetz T.  Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq.  Exp Eye Res.  2015. 129:93-106.
[PubMed]

Stunkel M, Bhattarai S, Kemerley A, Stone E, Wang K, Mullins R, Drack A.  Vitritis in Pediatric Genetic Retinal Disorders.  Ophthalmology.  2015 January. 122(1):192-199.
[PubMed]

Swiderski R, Nakano Y, Mullins R, Seo S, Bánfi B.  A mutation in the mouse Ttc26 gene leads to impaired Hedgehog signaling.  PLOS Genetics.  2014 October. 10(10):e1004689.
[PubMed]

Schubert C, Pryds A, Zeng S, Xie Y, Freund K, Spaide R, Merriam J, Barbazetto I, Slakter J, Chang S, Munch I, Drack A, Hernandez J, Yzer S, Merriam J, Linneberg A, Larsen M, Yannuzzi L, Mullins R, Allikmets R.  Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy.  Hum Mutat.  2014. 35(7):859-67.
[PubMed]

Burnight E, Wiley L, Drack A, Braun T, Anfinson K, Kaalberg E, Halder J, Affatigato L, Mullins R, Stone E, Tucker B.  CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.  Gene Ther.  2014. 21(7):662-72.
[PubMed]

Date Last Modified: 03/04/2015 - 16:50:04