Tell us a little bit about yourself. Continued

As a rare disease researcher and educator, one of my proudest accomplishments is introducing a novel undergraduate seminar course titled “Rare Diseases: What it Takes to Be a Medical Orphan” to immerse students in this public health challenge so that they can think critically about innovative solutions. For this, I was recognized as a Rare Disease Difference Maker® in 2021.

I also serve as Director of Research programs for IndoUSrare, a US-based non-profit organization building collaborative bridges between the US and the Indian subcontinent to address the unmet needs of diverse patients and accelerate therapies for all individuals affected by rare diseases globally.

Why did you choose your career?
To make an impact through my research and by mentoring the upcoming generation.

When did you first decide you wanted to work with rare diseases? Please share what led to that decision.
My postdoctoral training project was on gene expression analysis in a rare skin cancer. This experience made me realize the challenges of working with rare diseases, and I decided to use my skills to make the best of the clinical samples coming in for research. Subsequently, I switched to conducting pharmacological research, which brought me to adrenoleukodystrophy, a fascinating disease that is still not fully understood and with no effective curative treatments. I have been working in this area for the last 15 years.

Tell us a little about any current/previous work with other rare diseases. For example, have you ever been a part of a team that has worked on gene therapy/other drug development initiatives before, or has brought a potential treatment to a clinical trial? What has been one of your most rewarding experiences?
My research focuses on two other rare diseases – Gaucher disease and Adrenoleukodystrophy, where we are repurposing medications to target underlying oxidative stress, inflammation, and mitochondrial dysfunction. In addition, we are also involved in biomarker discovery studies in these conditions. Working with patients on clinical studies and understanding what matters most to them has been rewarding.

Why did you choose to work with the INADcure Foundation?
With the overlap in the biochemistry of lysosomal diseases such as Gaucher disease with INAD, I hope to offer my expertise in the journey to find treatments for INAD.

What recent breakthroughs have gotten you most excited for the future of rare disease?
Advances in precision medicine tailoring diagnosis and treatment for patients.

What is your favorite part of the work you do?
My favorite part of my work is training the next generation of scientists, healthcare professionals, and leaders.

What do you do to relax (or have fun)?
Play pickleball, kayak, and spend time outdoors with my family and puppy.

If you could have a lifetime supply of anything, what would it be?
Good weather

Last (or Best) book read?
Educated.

If you could have one superpower, what would it be?
Communicate with animals!