India has great researchers, dedicated clinicians, and a vast patient population, but they often work in silos

India carries nearly a quarter of the global rare disease burden, yet solutions for timely diagnosis and affordable therapies remain limited. In this context, Rahila Sardar, CEO and Co-founder, Vgenomics India in an interaction with Kalyani Sharma, sheds light on how genomics, Al, and stronger collaborations can accelerate rare disease care

- Rahila Sardar

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?