In this episode of Genetic Education Podcast: Raw & Real, I (Dr. Tushar Chauhan) shot a video podcast with one of India’s leading geneticists, Dr. Ashwin Dalal, Head of Diagnostics at the Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad.
We mainly focused on Dr. Ashwin Dalal’s work and discussed pediatric rare diseases, India’s genetic burden, the national mission program on pediatric rare diseases and the genomics core.
Key Topics:
About Dr. Ashwin Dalal:
Dr. Ashwin Dalal is a pioneer in clinical genetics and pediatric rare genetic diseases. While working at CDFD, he has played a key role in identifying novel disease-causing genes, improving rare disease diagnostics, and establishing India’s national genomic infrastructure.
For decades, he has been working on rare genetic diseases, patient care and treatment and bridging the gap between genetic research and healthcare.
Key Discussions From the Podcast:
Some key discussion from the entire podcast is summarised here in each section.
India’s Growing Genetic Burden
“The rise in diagnosed cases doesn’t mean genetic diseases are increasing — it means we’re finally diagnosing what was always there.” – Dr. Ashwin Dalal
India has a significantly high genetic disease burden, with over 70 million people estimated to live with rare disorders. Historically, the lack of proper infrastructure, resources and technology limited the diagnosis of such conditions.
Today, skilled scientists, government support, awareness and of course, high-throughput sequencing facilities are changing that narrative. As Dr. Dalal notes, there is no limit on funds.
National Mission on Pediatric Rare Diseases
The Department of Biotechnology (DBT) launched the Mission Program on Pediatric Rare Genetic Disorders to address undiagnosed genetic conditions in children. With an investment of crores, the initiative connects 16 institutions across India, with CDFD as the nodal center.
The program performs Genome and exome sequencing, focusing on families with undiagnosed disorders. This helps identify and validate novel disease-causing genes. This mission not only accelerates research but also builds long-term genetic databases within India.
India’s First Novel Gene Discovery
In the conversation, we also explored how Dr. Dalal and team discovered a novel gene, how it was validated and studied.
“This was a turning point,” he recalls. “It showed that novel gene discovery can happen right here in India, not just in labs abroad.”
Since then, his group has identified several more novel genes under the National Mission Program.
When Coffee Became the Cure
One fascinating case shared by Dr. Dalal is when they used coffee as a treatment. He explained the complete molecular pathway and how the caffeine from the coffee works to overcome the disease symptoms.
The National Genomics Core
Another key initiative discussed was the National Genomics Core, jointly established by DBT at CDFD Hyderabad and NIBMG Kolkata. These centers are equipped with state-of-the-art technologies such as ThermoFisher, Illumina and Oxford Nanopore sequencing platforms.
The project provides affordable sequencing services for researchers and students across India.
What sets it apart is the “Learn as You Sequence” program — a unique opportunity for students and scientists to witness live sequencing and data analysis, bridging the gap between academic theory and applied genomics.
Key Takeaways:
- India has an estimated 7 crore people living with rare genetic diseases.
- The National Mission Program is a ₹100 crore initiative led by DBT.
- Novel gene discoveries in India are increasing, thanks to local infrastructure.
- Policies like the National Rare Disease Policy 2021 are driving diagnosis and treatment support.
- The National Genomics Core offers sequencing access and training to researchers nationwide.
- Simple solutions, like caffeine therapy, highlight the potential of precision medicine.
Why It Matters:
India’s genomic research landscape is expanding rapidly. With scientists like Dr. Ashwin Dalal and programs that connect policy, research, and diagnostics, the country is building the foundation for a genetically informed healthcare system.
For students and researchers, this episode is a window into how genomic science translates into real-world healthcare, especially for children with rare diseases.
Editor’s Note:
Hosting this conversation with Dr. Ashwin Dalal was eye-opening. What amazed me was how Indian geneticists and the entire genetic community are building our own genomics ecosystem.
It’s not just about science, it is about community, skills and resource building. It is about building the ecosystem for better patient care. This episode reminded me why Genetics Education matters so deeply and why we have started this initiative.
— Dr. Tushar Chauhan
Watch the Full Podcast: Dr. Ashwin Dalal Explains Rare Genetic Diseases in India.
