Medical geneticist

Dr Shruti Pande


Greetings, dear readers! A warm welcome to my personal blog! 

The journey of my doctoral training introduced me to this vast, intriguing and evolving area of medical genetics encompassing the world of rare diseases, birth defects and genetic disorders. With the introduction of human genome sequencing to the implication of the cutting edge techniques to diagnose these clinical entities, the paradigm shifted from being undiagnosable and untreatable to molecularly diagnosable, thereby ending the diagnostic odyssey faced by the affected families and even treatable or manageable. The science is rapidly evolving with emerging improved sequencing methods, excellent bioinformatics applications, better tools to analyze the genome, new disease and gene discoveries, availability of improved in silico, in vitro and in vivo disease modelling facilities and ultimately providing an answer to the affected families. 

Here in this blog, I would like to share some of the family stories, discoveries, outstanding research outputs and the emerging therapeutics.

Lets explore this fascinating journey together!!