Rinki Ratnapriya Lab


Elucidating the mechanisms underlying the genetic basis of retinal and macular degenerative disease.

Large-scale genomic studies have demonstrated the massive scale of genetic variations among individuals, which have revealed important insights into genetic diversity and disease susceptibility. We focus on retinal and macular degenerative disease that affects million of people around leading to varying degrees of vision loss. Retinal diseases primarily affects the retina, a thin layer, primarily made of neurons in the back of the eye. We are interested in harnessing the power of genomic technologies to identify the molecular components and the regulatory apparatus that can link the disease variant to the phenotype.

Our ongoing projects are related to the following:

  1. Gene expression regulations and their role in AMD
  2. Role of rare coding variants in complex disease
  3. Genetics architecture of retinal degenerative diseases