Ocular Genomics Institute of Massachusetts Eye and Ear
Rosario Fernandez-Godino, PhD, is an Assistant Professor of Ophthalmology at Harvard Medical School and a Principal Investigator at the Ocular Genomics Institute of Massachusetts Eye and Ear (Boston, MA). A native of Madrid, Spain, she earned her Ph.D. in genetics and cell biology from the Complutense University of Madrid in 2009. Since 2011, Dr. Fernandez-Godino has studied the molecular mechanisms underlying age-related macular degeneration (AMD).
The Fernandez-Godino Laboratory utilizes cutting-edge molecular and cellular biology techniques to model pathologies associated with dysfunction of the retinal pigment epithelium (RPE) in vitro. Specifically, they use genome editing technology such as CRISPR/Cas9 to engineer induced pluripotent stem cells (iPSC) and further differentiate them into retinal cells. The cell-based models are valuable tools to study the mechanisms of pathology of inherited and complex eye diseases as well as to test potential
treatments, including gene therapy. The ultimate goal of the Fernandez-Godino Lab is to identify effective targets that can be applied therapeutically to stop AMD progression.
Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.
Human molecular genetics Jan, 2014 | Pubmed ID: 23943789
A local complement response by RPE causes early-stage macular degeneration.
Human molecular genetics Oct, 2015 | Pubmed ID: 26199322
Extracellular Matrix Alterations and Deposit Formation in AMD.
Advances in experimental medicine and biology , 2016 | Pubmed ID: 26427393
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Genetics in medicine : official journal of the American College of Medical Genetics 06, 2017 | Pubmed ID: 27735924
Characterization of lincRNA expression in the human retinal pigment epithelium and differentiated induced pluripotent stem cells.
PloS one , 2017 | Pubmed ID: 28837677
Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway.
Human molecular genetics 01, 2018 | Pubmed ID: 29095988
Alterations in Extracellular Matrix/Bruch's Membrane Can Cause the Activation of the Alternative Complement Pathway via Tick-Over.
Advances in experimental medicine and biology , 2018 | Pubmed ID: 29721924
C3a triggers formation of sub-retinal pigment epithelium deposits via the ubiquitin proteasome pathway.
Scientific reports 06, 2018 | Pubmed ID: 29946065
AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31 iPSC-Derived RPE Cells.
Molecular therapy. Methods & clinical development Dec, 2019 | Pubmed ID: 31890732
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