Since on the program, Nadia has completed her Post Doctoral studies and is currently working at NHLS.
By studying heritable, potentially monogenic versions of common diseases, we can identify, define and understand some of the molecular underpinnings of these diseases. This information will not only contribute to our understanding of these disease phenotypes in specific populations, but also to the global understanding of the genetic architecture of these diseases. The main aim of my postdoctoral research is to use next-generation sequencing (NGS) technology to generate novel molecular insights into hereditary eye diseases prevalent among South African populations.
I am currently involved in two NGS projects, one entitled “Gene discovery in primary congenital glaucoma using next-generation sequencing “ and the other entitled “Using next-generation sequencing to investigate the cause of congenital cataracts in a South African family“. I was fortunate to travel to the USA to visit a NGS facility and to attend a workshop on NGS data analysis through the NCD Leadership Programme for which I am very grateful as it equipped me to deal with the large amount of data analysis that is needed for these projects