What inspired you to found Vgenomics, and what were the gaps you were hoping to address in India’s healthcare system?
My journey started with a deep interest in science, influenced by my father’s background. Since childhood, he has motivated me to think about how we can leverage science and technology to benefit people. After completing my master’s in biochemistry, I became interested in the emerging fields of bioinformatics and genomics. I joined ICGEB (International Centre for Genetic Engineering and Biotechnology) as an intern, where I learned about genomics and data science, which led me to pursue a PhD in bioinformatics with a vision to advance translational research that directly benefits the community. During the COVID-19 pandemic, I witnessed incredible acceleration in the field of translational science and observed the untapped potential in India for translational science leading to product-based innovation. That’s when I decided to start Vgenomics, focusing on rare diseases. India has one-fourth of the world’s rare disease population but limited solutions that accelerate the diagnostic biomarker and target discovery
What are the key focus areas for Vgenomics?
At Vgenomics, we focus on rare diseases, the underserved subset of genetic diseases. Our main focus is on accelerating the diagnostics and target discovery for rare diseases. This is urgent, as around seven out of ten rare diseases show up in childhood, yet most kids go from clinic to clinic for years without a clear diagnosis. And when they finally get a diagnosis, they face the harsh reality of 95 per cent of conditions having no FDA approved therapy, and the few drugs that do exist cost a fortune. By speeding up diagnosis and target discovery, we’re determined to end that cycle that will ultimately provide rare disease families the answers and options they deserve.
What are the biggest challenges you see in diagnosing rare diseases in India?
The toughest part of diagnosing rare diseases in India is that the odds are stacked against patients at almost every step of the care journey. Firstly, there’s limited awareness among primary care physicians, especially in rural areas, as most have little exposure to such conditions. Secondly, rare diseases often mimic common ones, which means families can spend years bouncing between clinics before anyone even thinks of ordering a specialised test, leading to misdiagnosis or delays. About 80 percent of rare diseases are genetic and need specific tests, yet the sophisticated assays needed to spot them are concentrated in big-city labs and remain expensive for most households. Finally, we still lack a universal newborn screening program, so we miss the narrow window when many of these conditions could be caught early and managed far more effectively.
From a policy standpoint, how prepared is India to embrace precision medicine and rare disease care?
We’re really at an inflection point. The National Rare Disease Policy is a big step, acknowledging rare diseases as a public health concern, which provides financial assistance of up to Rs 50 lakhs per patient for the treatment of rare diseases. Now, even crowdfunding for these treatments is allowed and practiced for the treatment of specific rare diseases. There’s still a long way to go, but government support is growing. Organisations like ICMR and TDB have opened focused grant windows for rare disease therapeutics, registry-based research, and advanced centre development. It’s a promising foundation, and the next few years should be about turning these policy headlines into day-to-day reality for patients.
Tell us about the current products developed by Vgenomics?
We have developed ‘RgenX,’ an end-to-end AI-driven precision diagnostics platform. It seamlessly blends symptom-to-disease prediction with multitechnology genomic analysis. Clinicians, labs, and genetic experts begin with automated triage of patient symptoms, proceed through explainable variant prioritization, and conclude with a comprehensive report, all within a single, intuitive workflow. On the discovery side, we have developed algorithms and workflows that ingest multi-omics datasets. Using this approach, in partnership with Dr. Shroff’s Charity Eye Hospital, we’ve identified a novel biomarker for early detection of keratoconus. Now in preclinical testing, this discovery could enable doctors to catch and treat the disease long before it steals your vision, dramatically improving patient outcomes. Could you share more about your partnerships and collaborations? We have collaborated with several Indian and international institutions like AIIMS Delhi, Dr. Shroff’s Charity Eye Hospital, PGICH, and TAHPI from Dubai, and diagnostic players like Strand Life Sciences, Neuberg Diagnostics, and MERIL Genomics. With MERIL Genomics, we offer free genetic testing for rare diseases under the “RAREINDIA” program. By removing cost barriers, we make sure families from big cities to small villages get the answers they need.
What advice would you give to researchers or start-ups entering this space?
Collaboration is everything. India has great researchers, dedicated clinicians, and a vast patient population, but they often work in silos. We need more public-private partnerships to solve real problems. Also, medical training needs an overhaul. We must leverage genetics and AI to work with new-age diagnostics.
Finally, do you think India’s medical community is ready to embrace new technologies?
Yes, the shift has already begun. The initial skepticism paves the way for professional curiosity, helping us build reliable and validated tools that improve patient outcomes. We need to demystify technology. AI can’t replace doctors but can augment their decisionmaking and diagnostic accuracy. AI and other technologies must be rigorously validated with medical experts to prove their accuracy and utility. Furthermore, for widespread adoption, we need a supportive ecosystem. This includes clear clinical guidelines for implementation, regulatory backing, and continuous improvement of these tools. As we build this foundation of trust and evidence, we will see adoption accelerate across the entire medical community.
You were among the first to publish on COVID-19 from India. Could you elaborate?
Yes, when only two COVID cases were reported in India, I compared their DNA data with global datasets. Until that time, most of the research was focused on the mutations in the virus genome, but I studied the host genetic factors “miRNA,” which might be protecting Indian patients. Based on that, I postulated that India might not see the same devastation as Spain or Italy due to certain genetic immunity factors during the first wave. That initial hypothesis held true and was featured in national and international media.
Do you foresee any trends in infectious diseases or pandemics in the future?
Unfortunately, yes, I think we have to assume new outbreaks are inevitable. We will certainly face pandemics in the future, despite the development of vaccines and preventive methods. The key lies in a person’s immunity. Even with vaccines, responses vary. The initial strain wasn’t deadly for COVID, but later mutations made it worse. Some individuals have no symptoms or mild symptoms. Other people may suffer from severe disease, requiring hospitalization. While vaccines are essential, individual immune response greatly influences outcomes.Future preparedness will depend on real-time genomic surveillance to spot risky mutations earlier, vaccines, and a deeper focus on individual immunity. In other words, we need populationlevel vigilance paired with precision-medicine insights if we want to stay ahead of the next pandemic curve.
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