University of Pennsylvania Health System

Department of Ophthalmology

Ophthalmology Faculty

Faculty Overview

Venkata Ramana Murthy Chavali, Ph.D

faculty photo
Research Assistant Professor of Ophthalmology
Department: Ophthalmology

Contact information
Rm.133A, Anatomy Chemistry Building, 3620 Hamilton Walk, University of Pennsylvania
Philadelphia, PA 19104
Office: 2158988320
Lab: 2158988320
B.Sc. (Biotechnology)
Andhra University, Visakhapatnam, INDIA, 1999.
M.Sc. (Biotechnology)
Andhra University, Visakhapatnam, INDIA, 2001.
PhD (Molecular Virology)
Indian Institute of Technology Kharagpur, INDIA, 2007.
Post-Graduate Training
Postdoctoral Fellow, Ophthalmology, University of Michigan, Ann Arbor, 2006-2007.
Postdoctoral Fellow Employee, Ophthalmology, University of California San Diego, 2008-2011.
Postdoctoral Fellow, Ophthalmology, University of Pennsylvania, 2011-2012.
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Description of Research Expertise

My lab applies multi-disciplinary approaches to studying retinal pathology in AMD and POAG by understanding (1) pathways associated with these pathologies caused by SNPs in genes associated with cholesterol metabolism and lipid biogenesis in AMD and POAG (2) role of non-coding RNA, differentially expressing transcriptome and eQTLs in causing retinal pathobiology, and (3) investigating the role of novel SNPs/genes associated with POAG in African-American cohorts.

Age related macular degeneration (AMD) is the most common cause of an irreversible vision loss affecting the elderly. It's a multifactorial disorder affecting individuals over 55 years of age. Dr. Chavali's lab is investigating mechanisms leading to AMD by i) investigating the role of non-coding RNA associated with AMD, ii) characterizing the lipid pathways in RPE that are responsible for the biogenesis of soft drusen, or sub-retinal drusen deposits in AMD using in vitro systems and transgenic mouse models, and, iii) Understanding the functions of AMD associated genes using CRISPR/Cas9 gene editing methodologies in human induced pluripotent stem cell- derived RPEs, human fetal RPE cultures and using animal model studies.

Over the last three years, Dr. Chavali's lab has been actively involved in the understanding the molecular pathophysiology of Primary Open-Angle Glaucoma (POAG) in African Americans in collaboration with Dr. Joan O'Brien's lab. POAG is the most common form of Glaucoma causing blindness in the elderly over 50 years of age and it affects years early and with faster progression in African Americans compared to Caucasians. The molecular characterization studies in POAG include in vitro functional characterization of POAG associated variants, transcriptome profiling of normal and POAG African American patient's iPSC-RGCs to understand POAG-associated differentially expressed genes and noncoding RNA in African Americans, single-cell transcriptome sequencing to characterize RGC subtypes in the retina, and investigating the role of mitochondrial haplogroup association with POAG.

To drive translation approaches to these blinding diseases, Dr. Chavali's lab has established in vitro models to study the developmental and blinding disorders using induced pluripotent stem cells (iPSCs), to study how dysregulated downstream pathways are related to clinical manifestations. His lab is currently working with CAROT center at UPenn to develop and standardize methods to differentiate patient-specific pluripotent stem cells (with and without pathogenic mutations) direct them towards development of retinal Organoids and retinal cell types (RPE, RPC and RGC) using in vitro differentiation assays. Our goal is to identify mechanisms that may lead to a better understanding of AMD and/or POAG disease progression and new targets for therapeutic interventions.

Selected Publications

Sommer Jeffrey R, Chavali Venkata R M, Simpson Sean G, Ayyagari Radha, Petters Robert M: Cloning, characterization, and expression analysis of the pig (Sus scrofa) C1q tumor necrosis factor-related protein-5 gene. Molecular vision 18: 92-102, Jan 2012.

Cukras Catherine, Gaasterland Terry, Lee Pauline, Gudiseva Harini V, Chavali Venkata R M, Pullakhandam Raghu, Maranhao Bruno, Edsall Lee, Soares Sandra, Reddy G Bhanuprakash, Sieving Paul A, Ayyagari Radha: Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. PloS one 7(11): e50205, Nov 2012.

Naeem Muhammad Asif, Chavali Venkata R M, Ali Shahbaz, Iqbal Muhammad, Riazuddin Saima, Khan Shaheen N, Husnain Tayyab, Sieving Paul A, Ayyagari Radha, Riazuddin Sheikh, Hejtmancik J Fielding, Riazuddin S Amer: GNAT1 Associated with Autosomal Recessive Congenital Stationary Night Blindness. Investigative ophthalmology & visual science 53(3): 1353-61, Mar 2012.

Chavali Venkata R M, Khan Naheed W, Cukras Catherine A, Bartsch Dirk-Uwe, Jablonski Monica M, Ayyagari Radha: A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration. Human molecular genetics 20(10): 2000-14, May 2011.

Vasireddy Vidyullatha, Chavali Venkata R M, Joseph Victory T, Kadam Rajendra, Lin Jonathan H, Jamison Jeffrey A, Kompella Uday B, Reddy Geereddy Bhanuprakash, Ayyagari Radha: Rescue of photoreceptor degeneration by curcumin in transgenic rats with P23H rhodopsin mutation. PloS one 6(6): e21193, Jun 2011.

Chavali Venkata R M, Sommer Jeffrey R, Petters Robert M, Ayyagari Radha: Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration. Investigative ophthalmology & visual science 51(11): 5499-507, Nov 2010.

Riazuddin S Amer, Shahzadi Amber, Zeitz Christina, Ahmed Zubair M, Ayyagari Radha, Chavali Venkata R M, Ponferrada Virgilio G, Audo Isabelle, Michiels Christelle, Lancelot Marie-Elise, Nasir Idrees A, Zafar Ahmad U, Khan Shaheen N, Husnain Tayyab, Jiao Xiaodong, MacDonald Ian M, Riazuddin Sheikh, Sieving Paul A, Katsanis Nicholas, Hejtmancik J Fielding: A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. American journal of human genetics 87(4): 523-31, Oct 2010.

Li Lin, Nakaya Naoki, Chavali Venkata R M, Ma Zhiwei, Jiao Xiaodong, Sieving Paul A, Riazuddin Sheikh, Tomarev Stanislav I, Ayyagari Radha, Riazuddin S Amer, Hejtmancik J Fielding: A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. American journal of human genetics 87(3): 400-9, Sep 2010.

Ghorai Suvankar, Chakrabarti Mrinmay, Roy Sobhan, Chavali Venkata Ramana Murthy, Bagchi Abhisek, Ghosh Ananta Kumar: Molecular characterization of genome segment 2 encoding RNA dependent RNA polymerase of Antheraea mylitta cytoplasmic polyhedrosis virus. Virology 404(1): 21-31, Aug 2010.

Chang Bo, Mandal Md Nawajes A, Chavali Venkata R M, Hawes Norman L, Khan Naheed W, Hurd Ronald E, Smith Richard S, Davisson Muriel L, Kopplin Laura, Klein Barbara E K, Klein Ronald, Iyengar Sudha K, Heckenlively John R, Ayyagari Radha: Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene. Human molecular genetics 17(24): 3929-41, Dec 2008.

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Last updated: 09/06/2019
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