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Qingling huang, mD Assistant Research Ophthalmologist ReseaRch summaRy Structure and Function of Alpha-crystallin Dr. Huang’s research is focused on understanding the function and structure of alpha-crystallin. Alphacrystallin is one of the major structure proteins of the eye lens. This protein is a member of the small heatshock proteins and is capable of protecting other proteins from denaturation and aggregations. This protein is extremely important because it is overexpressed in many neurological diseases. Joanna J. Kaylor, PhD Assistant Research Ophthalmologist ReseaRch summaRy Characterization and Identification of the Enzymes of the Cone Visual Cycle Bright light vision is solely mediated by the cone photoreceptor cells of the retina. Recent biochemical evidence supports the existence of a new metabolic pathway in the retina for the regeneration of cone opsin visual pigment. Dr. Kaylor is using biochemistry and molecular biology techniques to characterize and identify the enzymes responsible. Her work has led to the identification of the first vitamin A retinol isomerase, dihydroceramide desaturase-1 (DES1). Understanding the role of DES1 in vision is the current focus of her research. Jacky m.K. Kwong, PhD Associate Research Ophthalmologist ReseaRch summaRy Degeneration of Retinal Ganglion Cells and Neuroprotection Dr. Kwong’s research goal is to identify novel neuroprotective therapies for glaucoma. To understand the loss of retinal ganglion cells in glaucoma, his research focuses on the response and the cell death pathway of retinal ganglion cells in animal models related to optic nerve injury and glaucoma. Dr. Kwong and his colleagues recently found retinal ganglion cell-specific proteins. He is utilizing these proteins to visualize retinal ganglion cells and to investigate their function in retinal ganglion cells during degeneration. He is also applying pharmacologic techniques to evaluate therapies that enhance endogenous neuroprotective responses against glaucomatous, excitotoxic, and axonal damage to nerve cells, and is utilizing multidisciplinary methods to understand the protective mechanisms. anna matynia, PhD Assistant Research Ophthalmologist ReseaRch summaRy Neural and Molecular Basis of Photoallodynia Dr. Matynia is investigating the mechanisms of photoallodynia, a condition in which normal levels of light produce or enhance ocular or headache pain. Using a combination of behavioral, molecular, and cellular approaches in genetic mouse models, the goal is to identify mechanisms of light-pain association for different causes of photoallodynia, including corneal, retinal, and central causes such as dry eye injury, achromatopsia, and migraine respectively. The research findings will form the basis of treatment strategies for this condition. Faculty 71
72 Faculty michael D. Olson, OD, PhD Associate Research Ophthalmologist ReseaRch summaRy Comprehensive Ophthalmology Dr. Olson’s research activities focus on the visual and surgical outcomes following cataract surgery. This includes the surgical correction of refractive errors, evaluating the safety and efficacy of specialty use ocular implants, and functional visual outcomes following ocular trauma cases and complicated cataract surgery. He is currently investigating three iris implants: the HumanOptic Artificial Iris, which is a customized, handmade color match of the patient’s fellow eye; Morcher GmbH aniridia implants; and the Ophtec Reconstruction Lens for the treatment of eyes with congenital aniridia, acquired iris defects, or complete aniridia. He is also investigating a unique intraocular lens whose power can be modified after implantation, correcting the residual refractive error, both spherical and astigmatic, to improve uncorrected visual acuity. maria carolina Ortube, mD Assistant Research Ophthalmologist Clinical Director of Research Studies, Retinal Disorders and Ophthalmic Genetics Division ReseaRch summaRy Ocular Genetics Dr. Ortube is a fellowship-trained specialist in pediatric ophthalmology, strabismus, and pediatric genetic conditions. She is an investigator in four clinical and translational research projects related to ocular genetics. The genetics of inherited eye disorders and Stargardt protocols provide clinical characterization of affected individuals and at-risk family members. The Genetics of Age-Related Maculopathy study focuses on the genetic and environmental risk factors that contribute to age-related maculopathy. The protocols use state-ofthe-art imaging and functional technologies in conjunction with molecular genetic testing to identify causative genes and mutations. Dr. Ortube has a special interest in children born with craniofacial ocular disorders. She is also investigating a simple, noninvasive, rapid method for widespread screening of diabetics using the pupillary light reflex. This study aims to identify those who may require medical attention and/or therapy for diabetic retinopathy. Dr. Ortube is a co-investigator in collaborative research efforts with the University of Pittsburgh and Neurokinetics, Inc. Roxana a. Radu, mD Associate Research Ophthalmologist ReseaRch summaRy Retinoids Metabolism in the <strong>Eye</strong> and Underlying Mechanisms of Macular Degeneration Dr. Radu’s research focuses on the visual cycle and underlying biochemical and molecular mechanisms of macular degeneration. She studies the in vivo association of the complement negative regulator genes and age-related macular degeneration (AMD) development. The mechanism by which dysfunction of complement factor H (CFH, one of the complement regulatory genes) causes AMD is not known. To investigate the relationship between abnormal build-up of vitamin A- based toxic compounds such as A2E and the complement system, Dr. Radu will generate a mouse lacking both genes ABCA4 and CFH. This complex mouse genetic model will advance understanding of the relationship between lipofuscin accumulation, complement activation, and photoreceptor degeneration in AMD, and it will be a valuable tool for developing new treatments for this disease. Kiyo sakagami, PhD Assistant Research Ophthalmologist ReseaRch summaRy Hedgehog Signaling and PTEN/PI3K Signaling on Retinal Development Dr. Sakagami’s research aims to understand how extracellular signals coordinate retinal cell fate and behavior during development, using genetic strategies for conditional mutagenesis in the mouse. The more specific goals of her research are to understand how hedgehog signaling regulates bHLH genes to determine cell cycle and cell fate decisions and to investigate the potential role of PTEN/PI3K signaling on retinal formation.
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Jules Stein Eye Institute ANNUAL RE
Page 3 and 4:
ii Jules and Doris Stein The legacy
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iv Board of Trustees Board of Trust
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vi Jules Stein Mission Statement Th
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2 Highlights Dear Friends, I am ple
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Institute Brings a Pediatric-Friend
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Honors Each year, as part of their
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Research Research is a key componen
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Adaptive Robotics for Ocular Surger
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17th Annual Vision Science Conferen
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Audrey and Jack Skirball continued
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The Ahmanson Foundation Awards Gran
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Major Gifts over $25,000 American G
Page 27 and 28: Jules Stein Chair in Ophthalmology
Page 29 and 30: Community Outreach Much of the Jule
Page 31 and 32: Vision Education Vision IN-School (
Page 33 and 34: anthony J. aldave, mD Associate Pro
Page 35 and 36: Richard s. Baker, mD Associate Prof
Page 37 and 38: 30 Faculty | Bok Dean Bok, PhD Doll
Page 39 and 40: Richard casey, mD Clinical Professo
Page 41 and 42: Joseph L. Demer, mD, PhD Leonard Ap
Page 43 and 44: Gordon L. Fain, PhD Distinguished P
Page 45 and 46: Joann a. Giaconi, mD Assistant Clin
Page 47 and 48: Robert alan Goldberg, mD Karen and
Page 49 and 50: michael B. Gorin, mD, PhD Harold an
Page 51 and 52: Gary N. holland, mD Jack H. Skirbal
Page 53 and 54: Wayne L. hubbell, PhD Jules Stein P
Page 55 and 56: sherwin J. Isenberg, mD Laraine and
Page 57 and 58: simon K. Law, mD, PharmD Associate
Page 59 and 60: colin a. mccannel, mD Associate Pro
Page 61 and 62: Kevin m. miller, mD Kolokotrones Pr
Page 63 and 64: Kouros Nouri-mahdavi, mD, msc Assis
Page 65 and 66: stacy L. Pineles, mD Assistant Prof
Page 67 and 68: David sarraf, mD Associate Clinical
Page 69 and 70: hui sun, PhD Associate Professor of
Page 71 and 72: Federico G. Velez, mD Assistant Cli
Page 73 and 74: David s. Williams, PhD Jules and Do
Page 75 and 76: 68 Faculty INsTITuTe memBeRs BaseD
Page 77: 70 Faculty PROFessIONaL ReseaRch se
Page 81 and 82: 74 Faculty Vicki chan, mD Associate
Page 84 and 85: Programs
Page 86 and 87: Nearly all the evaluation, diagnosi
Page 88 and 89: Diabetic Eye Disease and Retinal Va
Page 90 and 91: Orbital Disease Center The Orbital
Page 92 and 93: Ophthalmic Photography Clinical Lab
Page 94 and 95: Didactic Education Residents receiv
Page 96 and 97: Fellowship in Cornea-External Ocula
Page 98 and 99: Fellowship in Vitreoretinal Disease
Page 100 and 101: Appendices
Page 102 and 103: Assistant Clinical Professor of Oph
Page 104 and 105: Educational Offerings Ophthalmology
Page 106 and 107: Research Contracts and Grants Fisca
Page 108 and 109: Longitudinal Studies of Ocular Comp
Page 110 and 111: Biochemical and Genetic Analysis of
Page 112 and 113: Age-Related Eye Disease Study II Em
Page 114 and 115: Corneal Endothelial Cell Changes in
Page 116 and 117: Genetics of Age-Related Maculopathy
Page 118 and 119: PET/CT Imaging for Early Detection
Page 120 and 121: Publications of the Full-Time Facul
Page 122 and 123: Li X, Bykhovskaya Y, Haritunians T,
Page 124 and 125: Kalyani PS, Holland GN, Fawzi AA, A
Page 126 and 127: Dean AW, Glasgow BJ. Mass spectrome
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Appendices | Publications of the Fu
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The emblem of the Jules Stein Eye I
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