Applications of NGS in Inherited Ocular Diseases
Subhabrata Chakrabarti,
Doctor,
L V Prasad Eye Institute
Recent advances in genome analyses have resulted in a plethora of information on gene functions in single gene disorders, but our knowledge on multi-gene involvement in disease manifestation is limited. The rapid advancement of technologies in understanding the genome have further facilitated in providing insights into the underlying molecular mechanisms leading to disease pathogenesis. There are several ocular diseases that manifests simple to complex etiologies and affects humans of all ages. The development of next generation sequencing (NGS) technology has facilitated novel gene discoveries, better appreciation of gene-gene interactions that has led to the identification of modifier genes. Using the scenario of Mendelian and complex eye diseases, I shall demonstrate the advances that we have made in this field pertaining to understanding of the molecular etiology in facilitating better disease management. I will also provide some novel molecular mechanisms in glaucoma (a leading cause of irreversible blindness) that we have discovered using NGS techniques in an attempt towards translational research from bench to bedside to community.
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