The Mom Who Took on Genetics: Swapna Sasidharan’s Mission to Cure Rare Disease

Swapna Sasidhara is creating a road map to cure rare diseases

If you met Swapna Sasidharan in passing, you might be struck by her calm confidence and unshakable focus. What you might not see right away is just how extraordinary her journey has been—from tech executive to biotech innovator, from mom to medical detective, and from someone looking for answers to someone building them from scratch.

This story begins with a single letter. A typo, to be exact.

When Swapna’s son was diagnosed with a rare developmental disorder, there was no name for what he was experiencing. He wasn’t speaking. He suffered from unpredictable, severe vomiting episodes. His development lagged behind. The answers were scarce. Doctors suggested genetic testing. The results? Inconclusive. No diagnosis. No path forward.

That could have been the end of the story. But Swapna didn’t stop.

Instead, she dove in. She studied. She enrolled in a Drug Discovery and Development course at Harvard Medical School to refresh her knowledge of biology and genetics. She scoured academic literature. She discovered RNA sequencing, an advanced tool more commonly used in research labs than in clinical care and convinced her son’s medical team to run it.

That’s when she found the answer: a single nucleotide mutation in the POGZ gene. One small “G” replaced by a “C”—a tiny typo in the genetic code that would alter the course of her son’s life. And hers.

Building the Blueprint

For most of us, this discovery would have been overwhelming. For Swapna, it was clarifying. She began reading everything she could about gene therapies: CRISPR, ASOs, and AAV-based delivery systems. She wasn't just trying to help her son—she was beginning to map out a potential cure.

She founded the Cure POGZ Disorders Foundation (CPDF) in 2023 to bring together researchers, clinicians, families, and advocates. With the help of scientific collaborators at Rush University, Coriell Institute, and The Jackson Laboratory, the foundation is now building a mouse model of her son’s exact mutation and laying the groundwork for preclinical studies. The goal? A gene therapy that could replace the faulty gene and give children like her son, a real shot at developmental progress.

And that’s not all. Swapna isn’t just trying to treat one condition—she’s working to create a blueprint for the 10,000 other rare diseases like it. Because 80% of rare diseases are monogenic, caused by a single letter change in the genetic code. And the tools to fix them already exist! What’s missing is the model.

Don’t worry, she’s building that too.

A Vision Fueled by Urgency

Time matters. Neurons form early. The younger a child is when treated, the better their outcomes. Swapna knows this. That’s why CPDF’s work isn’t just about research, it’s about speed, advocacy, and access.

To bring a gene therapy to clinical trial, Swapna needs to raise $5 million over the next 3–4 years. The first step is $650,000 to complete the preclinical phase. That amount could unlock a future not just for her son, but for thousands of families grappling with rare, devastating disorders.

She’s not doing this for personal gain. She’s doing it because no one else was going to.

A Mother. A Scientist. A Force.

By day, Swapna runs her own consulting company. By night, she fundraises, manages a foundation, and advocates for her son. She juggles therapy appointments, scientific meetings, and bedtime routines. She treats her son like any other child, while navigating a world of special needs most can’t imagine.

What’s most striking isn’t just her brilliance or grit. It’s her clarity of purpose. She doesn’t pity herself. She doesn’t ask why. She simply asks: What’s next?

Her favorite framework is borrowed from a blog she read during her darkest days: Acknowledge. Accept. Act. The blog from Matt Might, is not just how she copes—it’s how she leads.

How You Can Help

This is not just Swapna’s story. It’s a roadmap for what’s possible when love, science, and determination collide. And it needs funding.

If you're in a position to give—personally, through a donor-advised fund, a foundation, or your company—reach out. If you know someone who might be inspired by this work, make an introduction. If you're a parent, scientist, or simply someone moved by this story, consider donating today.

Because this isn’t just about curing one condition. It’s about building a better path for rare diseases everywhere.

Let’s help her finish what she’s started. 👉 https://www.curepogzdisorders.org/donate

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I help nonprofits raise more money through education, coaching, and strategic planning. If your organization is ready to strengthen its fundraising strategy, diversify revenue streams, or develop a comprehensive legacy giving program, I'd love to discuss how we can work together.