Areas of Interest
Our research focuses on studies of the molecular mechanisms responsible for inherited forms of retinal degeneration causing devastating loss of vision in affected individuals. Our efforts have contributed to the identification of disease genes whose mutations result in early and severe forms of retinal degeneration. Normally these genes are expressed in the retina and retinal pigment epithelium, and encode proteins necessary for the function and survival of the light absorbing rod and cone photoreceptor cells. Disease-associated mutations disrupt cellular processes including the metabolism of vitamin A needed to produce the light-absorbing chromophore 11-cis retinal, the phagocytic uptake of membrane debris from the subretinal space, and the structure and lipid composition of the photoreceptor cells. Our ongoing research focuses on analysis of the normal function and pathogenic mechanisms associated with these genetic defects, in studies involving biochemical assays of protein function and enzyme activity in vitro, and phenotypic characterization of mouse and rat models corresponding to human forms of disease. We are using this information to develop novel strategies for therapeutic intervention that we are testing in preclinical trials.
Honors & Awards
John A. Boeze Memorial Alumnus Award in Biochemistry and Molecular Biology, Michigan State University, 2020
Elizabeth Anderson Award for Macular Degeneration Research, BrightFocus Foundation, 2014
Fellow, Association for Research in Vision and Ophthalmology, 2010
Senior Scientific Investigator Award, Research to Prevent Blindness, 2009
Senior Scientific Investigator Award, Research to Prevent Blindness, 2008
Elizabeth Caroline Crosby Research Award, NSF ADVANCE Project, 2005
Lew R. Wasserman Merit Award, Research to Prevent Blindness, 1999
Rackham Partnership Program Award, Sponsor, University of Michigan, 1995
Career Development Fund for Women Faculty Award, University of Michigan, 1995
Pharmacologic activation of autophagy without direct mTOR inhibition as a therapeutic strategy for treating dry macular degeneration.
Zhang Q, Presswalla F, Ali RR, Zacks DN, Thompson DA, Miller JML.
Aging. 2021, in press.
Relative Contributions of All-Trans and 11-Cis Retinal to Formation of Lipofuscin and A2E Accumulating in Mouse Retinal Pigment Epithelium.
Boyer NP, Thompson DA, Koutalos Y.
Invest Ophthalmol Vis Sci. 2021; 62: 1.
Shifting the balance of autophagy and proteasome activation reduces proteotoxic cell death: a novel therapeutic approach for restoring photoreceptor homeostasis.
Qiu Y, Yao J, Jia L, Thompson DA, Zacks DN.
Cell Death Dis. 2019; 10: 547.
Development of a gene-therapy vector for RDH12-associated retinal dystrophy.
Feathers KL, Jia L, Perera ND, Chen A, Presswalla FK, Khan NW, Fahim AT, Smith AJ, Ali RR, Thompson DA.
Hum Gene Ther. 2019; 30: 1325–35.
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Fahim AT, Bouzia Z, Branham KH, Kumaran N, Vargas ME, Feathers KL, Perera ND, Young K, Khan NW, Heckenlively JR, Webster AR, Pennesi ME, Ali RR, Thompson DA, Michaelides M.
Br J Ophthalmol. 2019; 103: 1789–96.
A platform for assessing outer segment fate in primary human fetal RPE cultures.
Zhang Q, Presswalla F, Feathers K, Cao X, Hughes BA, Zacks DN, Thompson DA, Miller JML.
Exp Eye Res. 2019; 178: 212–22.
For a list of publications from MyNCBI, click HERE