Rinki Ratnapriya, PhD

Identification of the causal genes/variants and understanding their roles in human diseases represents the central theme of my research. I have broad background and training in human genetics, genomics, and molecular biology. During my Ph.D., I applied traditional linkage mapping in multigenerational families with epilepsies to identify genetic loci and causal genes. I did my postdoctoral training in the laboratory of Dr. Anand Swaroop at the National Eye Institute (NEI), NIH, where I exploited next-generation sequencing-based, genome-wide methods for understanding the genetic basis of retinal and macular degenerative diseases. I recently started my independent research journey at the Baylor College of Medicine, where I am developing a program that will focus on harnessing the power of genomic technologies to address translational and clinical bioinformatics challenges pertaining to retinal and macular degenerative diseases. Specifically, we focus on understanding the role of variable gene expression driven by non-coding cis-regulatory sequence variation in the context of complex diseases such as Age-related macular degeneration (AMD), which is the leading cause of blindness in the elderly. We generate multiple high-throughput functional genomics data sets on the transcriptome and epigenome in disease-relevant tissues/cells and use computational approaches to integrate and analyze this data to identify the molecular components and the structure of the underlying regulatory apparatus.