Rinki Ratnapriya, Ph.D.

Assistant Professor

Email

rpriya@bcm.edu

Positions

Assistant Professor: Ophthalmology-Departmental
Baylor College of Medicine
Houston, TX, US

Education

MSc from University of Delhi: New Delhi, India; Genetics

PhD from Jawaharlal Nehru Centre for Advanced Scientific Research (JNCASR): Bangalore, India; Human Molecular Genetics

Postdoctoral Fellowship at National Eye Institute/NIH: Bethesda, Maryland, United States; Genetics and genomics of retinal and macular degenerative diseases

Professional Interests

Gene expression regulations and their role in AMD
Genetics of retinal and macular degenerative diseases
Role of cis-regulatory elements in ocular diseases

Websites

Department of Ophthalmology

Google Scholar

Complete List of publications

Selected Publications

Singh N, Swaroop A, Ratnapriya R.. " Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration. " Adv Exp Med Biol.. 2021 ; 1256 : 201-219.
Pubmed PMID: 33848003.
Ratnapriya R, Acar İE, Geerlings MJ, Branham K, Kwong A, Saksens NTM, Pauper M, Corominas J, Kwicklis M, Zipprer D, Starostik MR, Othman M, Yashar B, Abecasis GR, Chew EY, Ferrington DA, Hoyng CB, Swaroop A, Hollander AI.. " Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. " Hum Mol Genet. 2020 ;
Pubmed PMID: 32246154.
Ratnapriya R, Sosina OA, Starostik MR, Kwicklis M, Kapphahn RJ, Fritsche LG, Walton A, Arvanitis M, Gieser L, Pietraszkiewicz A, Montezuma SR, Chew EY, Battle A, Abecasis GR, Ferrington DA, Chatterjee N, Swaroop A. " Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration " Nat Genet. 2019 ; 51 : 606-610.
Pubmed PMID: 30742112.
Pietraszkiewicz A, van Asten F, Kwong A, Ratnapriya R, Abecasis G, Swaroop A, Chew EY. " Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration " Ophthalmology. 2018 ; 125 (3) : 398-406.
Pubmed PMID: 29224928.
Hoshino A*, Ratnapriya R*, Brooks M, Chaitankar V, Wilken M, Zhang C, Starostik M, Gieser L, Torre LA, Nishio M, Bates O, Walton A, Bermingham-McDonogh, Glass I, Wong R, Swaroop A, Reh T. " Molecular anatomy of developing human retina " Dev Cell. 2017 ; 43 (6) : 763-779.e4.
Pubmed PMID: 29233477.
Pierrache LHM*, Kimchi A*, Ratnapriya R*, Roberts L*, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI et al. " Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma " Ophthalmology. 2017 ; 124 (7) : 992-1003.
Pubmed PMID: 28412069.
Roberts L*, Ratnapriya R*, Plessis M, Chaitankar V, Ramesar RS, Swaroop A. " Molecular diagnosis of inherited retinal disorders in indigenous African populations by whole exome sequencing " Invest Ophthalmol Vis Sci. 2016 ; 57 (14) : 6374-6381.
Pubmed PMID: 27898983.
Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D. " Bi-allelic truncating mutations in CEP78, encoding Centrosomal Protein 78, cause cone-rod degeneration with sensorineural hearing loss " Am J Hum Genet. 2016 ; 99 (3) : 777-784.
Pubmed PMID: 27588452.
Fritsche LG, et al. " A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants " Nat Genet. 2016 ; 48 (2) : 134-43.
Pubmed PMID: 26691988.
Yang HJ, Ratnapriya R, Cogliati T, Kim JW, Swaroop A. " Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease " Prog Retin Eye Res. 2015 ; 46 : 1-30.
Pubmed PMID: 25668385.
Grassmann F, Fleckenstein M, Chew EY, Strunz T, Schmitz-Valckenberg S, Göbel AP, Klein ML, Ratnapriya R, Swaroop A, Holz FG, Weber BH. " Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration " PLoS One. 2015 ; 10 (5)
Pubmed PMID: 25962167.
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ et al. " Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration " Hum Mol Genet. 2014 ; 23 (21) : 5827-37.
Pubmed PMID: 24899048.
Fritsche LG, et al. " Seven new loci associated with age-related macular degeneration " Nat Genet. 2013 ; 45 (4) : 433-9.
Pubmed PMID: 23455636.
Priya RR, Chew EY, Swaroop A. " Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management " Ophthalmology. 2012 ; 119 (12) : 2526-36.
Pubmed PMID: 23009893.
Ajeet Singh, Rinki Ratnapriya. " Integration of multiomic data identifies core-module of inherited-retinal diseases " Hum Mol Genet. 2025 ; 34(5) : 34(5):454-465.
Pubmed PMID: 39797395.
Ma K, Nakajima H, Basak N, Barman A, Ratnapriya R. " Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration. " NPJ Genom Med. ; 10(1):48.
Pubmed PMID: 40517179.

Memberships

The Association of Research in Vision and Ophthalmology (ARVO)

The American Society of Human Genetics (ASHG)

Funding

Career Development Award: Grant funding from Research to Prevent Blindness

New Investigator Award: Grant funding from BrightFocus Foundation

Junior Faculty Seed Award: Baylor College of Medicine

Individual Investigator Research Grant: Foundation Fighting Blindness