Viney Gupta: Digenic Inheritance in Juvenile Open-Angle Glaucoma

April 21, 2021 | 12:00 PM EST

Presented by Viney Gupta, All India Institute of Medical Sciences

Juvenile open angle glaucoma(JOAG) is an uncommon but severe form of glaucoma, whose prevalence is high in South Asia and Africa. The currently known genes for this disease explain only 10-15% cases, depending on the population studied. While earlier, JOAG was considered an autosomal dominant disorder, recent studies have shown it to be autosomal recessive as well as occurring de novo, in some populations. We reported the disease to be genetically heterogenous based on segregation analysis of many families and were interested in looking for novel candidate genes that could explain the disease in our population. Next generation sequencing enables exome wide identification of novel variants and is currently the method of choice for identifying novel variants especially for diseases with genetic heterogeneity.

To learn more about Dr. Gupta's research, please sign up for the webcast on April 21st, 2021. We look forward to seeing you at this event!