Ever since I enrolled myself for the biotechnology UG programme, I found

genomics to be a fascnitaing subject. Perhaps because it depicts how a small

change can mean a lot. At the genomic level, all human beings are 99%
identical, and yet they have different appearances and traits. It’s only a
minute percent of the genome that decides a human’s height, skin color, eye
color, and other phenotypic features of the body. Furher study led me into
questioning how a cell decides its faith? How cells make different kinds of
tissues? And how they transform into highly specialized organs e.g. liver,
heart, brain. When all these specialised cells comprise the same Genome,
then how come they have different properties? These all questions
intrigued me to study Genomics.

In parallel with my semester assignments and exams, I would occassionaly

read essays on the history of genomics and the development of genome-
scale approaches. From the first ever sequencing of Chromose 22 to the
release of the first draft of human genome sequencing, launch of new DNA
sequencing in 2007 to the publishing of first comprehensive analysis of
cancer genomes in 2009. There were a lot of studies that depicted the scope
of genome sequencing. But “The 100K genomes project’ of 100,000
genomes sequencing from patients affected by a rare disease
or cancer” intrigued me the most.

I am yet to fully understand the practical approaches of Disease Genomics.

I have a lot of questions. For example, I am keen to
learn about mutational analysis of SARS-CoV-2, and
understand how genetic sequencing is used for the surveillance
of diseases like COVID-19. What is the capacity of sequencing
machines? Why don't all positive tests get sequenced? I wish to
seek these answers by working with geniuses like Prof. Bibha
Choudhary. She has done exclusive research on topics such as Genomics
of Cancer and Rare Disease. Furthermore, Her lab is also involved in
discovering novel cancer treatments and biomarkers and correlating
phenotype to genotype. I read she has done post-doctoral work at the
Institute for Genomic Medicine and has taught Regenerative Medicine too.
Needless to say, there’s so much to learn from her.

As the supersonic age of genomics advances, and scientific breakthroughs

in Disease Genomics continue, I wish to enrich my knowledge base and
study the impact of variation in the genome in rare diseases, and research
different approaches including genomics, epigenomics, and cell biology
experiments to decipher disease mechanisms in Indian patient cohorts.

Since the discovery of genome-scale approaches for testing variant

association to disease has transformed our ability to identify alleles
underlying rare and common diseases alike, I believe this is the best of
times for human disease genomics. If I get the golden opportunity to work
as an intern under Prof. Bibha Choudhary, I’ll put my sincerest efforts
towards ensuring satisfactory performance during the internship.