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Unraveling the complexities of Ocular Genetics

Dr.J.Madhavan at the Hospital for Sick Children, University of Toronto, Canada.

A comprehensive understanding of ocular genetics from some of the leading doctors and scientists in the field formed the basis of Dr. J Madhavan’s fellowship in ocular genetics at the Hospital for Sick Children at the University of Toronto in Canada.

Dr. Madhavan, a senior scientist with Sankara Nethralaya, who recently returned after completing his 18-month fellowship, described the experience and exposure as enriching and highly informative. He completed his fellowship under the able guidance of Dr. Elise Heon, an expert in Ocular Genetics for the last 20 years. Dr. Madhavan also underwent training at the institute’s Visual Electrophysiology Unit where he got an opportunity to work under the department’s head Dr. Carol Westall. The Visual Electrophysiology Unit provides a comprehensive range of electrodiagnostic services.

The fellowship, which entailed both clinical and research work, also enabled Dr. Madhavan to make productive contributions in journals, journal clubs and the Grand Rounds (Grand Rounds are a medium for doctors and scientists to present and deliberate on cases).

His visits to the ocular genetic clinic provided him a first-hand experience on understanding the phenotype of various ocular genetic diseases. He also attended teaching programs conducted by senior and leading consultants in the field.

Apart from publishing the work undertaken by him, during the period of the fellowship, in the Human Mutation journal, Dr. Madhavan has written three manuscripts which are under review. He also wrote a chapter on ‘Congenital Cataract’ for the second edition of Genetic Diseases of the Eye, which will be published soon.

As part of his research work, Dr. Madhavan worked on the mutation screening and gene expression studies to understand the molecular wiring and severity of diseases like Leber’s Congenital Amaurosis (LCA), Bardet-Biedl Syndrome (BBS), and Congenital Stationary Night Blindness (CSNB).

Dr. Madhavan, who joined Sankara Nethralaya in 2003 as a senior scientist, will pursue his research interests at the Genetics and Molecular Biology Department at the Kamalnayan Bajaj Institute for Research and Vision in Ophthalmology.

1 comment to Unraveling the complexities of Ocular Genetics

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