The Indo US Organization for Rare Diseases was founded to foster cross-border collaboration between the US and India, aiming to accelerate progress in rare disease research and patient care. With the US leading in biomedical innovation and India bearing a vast patient burden, collaboration is essential to overcome challenges like limited patient populations and delayed diagnoses. Harsha K Rajasimha

Shahid Akhter, Editor, Healthyouonline, spoke to Dr. Harsha K. Rajasimha—Founder of the Indo US Organization for Rare Diseases, —to understand how cross-border collaboration between India and the US can accelerate research, diagnosis, and access to therapies for patients with rare diseases, while ensuring patient-centric innovation and equitable care. Harsha K Rajasimha

Indo US Rare Diseases: Vision

When I first founded the Indo US Organization for Rare Diseases, the vision was to bridge nations—the US and India—for empowering lives impacted by rare diseases. What I observed over the last 12 to 14 years as a rare disease dad and patient advocate is that a lot of the innovation and progress in the field of rare diseases and orphan drug development were restricted to national boundaries.

The US is the largest funder of biomedical research in the world, and India has the largest population of patients and disease burden in the world. These cannot be working in silos if we have to achieve the progress and innovation needed for several rare genetic diseases, especially ultra-rare ones.  There are not enough patients to recruit from in any one country. We have to be global, inclusive, and look at the disease—not the countries. I did not see any organization set up to address the cross-border collaboration aspects.

Two countries at a time—we can expand the impact. When the US and India collaborate, the whole world benefits. All patients benefit. It is with that mindset that I originally founded this organization in the U.S.

Indo US Rare Diseases: Collaboration & Impact

At the Indo US Organization for Rare Diseases, we measure impact by how many patients we touch and how many rare disease patient organizations we collaborate with and positively impact. We look at it like layers of an onion. The outermost layer is mass outreach—educational articles and blogs. Hundreds have been written in the last five years, touching millions of people and patients.

Now, from a very specific point of view, we have 60 patient alliance members—nonprofit organizations focused on specific rare diseases, providing patient support services. On the corporate alliance side, we have six industry members who work closely with us to build bridges—companies from India and the US working together to improve access and innovation.

Indo US Rare Diseases: Key Challenges

The key challenge I see is the mindset of individuals. Many restrict their own thinking and feel like it's not possible or not doable—because of assumptions and inherent, implicit bias.

I think if we can be more open-minded, think outside the box, and be willing to learn from other stakeholders—doctors listening to patient advocates, patient advocates understanding the pharmaceutical industry and their requirements—then we can truly move forward. Ultimately, everybody has to win.

Indo US Rare Diseases: Opportunities

The opportunities are enormous. Challenges and problems are everywhere in the rare disease space. There are countless problems begging to be solved. As a scientist, I see great opportunity in advanced therapies like cell and gene therapies, antisense oligonucleotide therapies, and drug repurposing. There are many drugs sitting on shelves, waiting to be repurposed for diseases that haven't even been discovered yet.

Despite advances in genome sequencing technologies, we haven’t even scratched the surface. We are not doing newborn screening everywhere. We are not applying genome sequencing technologies where it is clearly warranted.Even now, diagnosis still takes 5 to 7 years on average—despite all these advances. That’s just not acceptable. The technology is here, but the healthcare system must use it so people can get faster diagnoses. There’s still an under-appreciation of the importance of diagnosing diseases—even if they are not yet treatable. People think it's a waste of time and money. We need to break that mindset.

Indo US Rare Diseases: Newborn Screening

There are several hundred rare diseases that are already treatable. It is simply unacceptable that the healthcare system bears the burden of undiagnosed patients born with known and treatable conditions—like PKU or congenital adrenal hyperplasia.

These types of diseases must be screened for. In the US, universal newborn screening panels cover over 70 diseases. In India, only three states have limited newborn screening programs. Why can't we have a national newborn screening program? If not mandatory, it should at least be offered by the healthcare system. Forget about babies born at home—even just covering every baby born in government or private hospitals would be a great first step.

Indo US Rare Diseases: Future Plans

We have four main areas of focus, aiming for 2027. One of them is to reach at least 300 million Indians in the next three years. It's an ambitious but achievable goal. The exact metrics for measuring that outreach are still to be defined, but the goal is clear. There is also a major opportunity to involve India in rare disease therapy manufacturing.

For example, India has developed CAR-T cell gene therapy for leukemia and B-cell lymphoma through IIT Bombay, in collaboration with the National Cancer Institute. This innovation, combined with India's cost-effectiveness and agility, has helped reduce CAR-T therapy costs by 90%. We are excited about such success stories born out of US-India collaboration. And we want to see many more—extending even beyond these two countries. Without cross-border collaborations, progress will remain limited and slow.