91��Ƭ��

When her son was a toddler, Swapna Sasidharan (M.A.S. ITM ’10) grew increasingly concerned with his development. He did not crawl until he was three and a half years old, and was delayed in many other aspects. 

“We have tested every single organ in his body—from his brain to his stomach to his liver to his heart—to see if we could get a diagnosis,” Sasidharan says. “And we did not find anything.” 

Sasidharan’s journey of self-education in health care, genetics, and drug development became extensive as she devoted all her free hours—those not spent during her day job as a senior director in information technology program management—toward solving the mystery of what might be wrong with her child.

“She knows everything in the field. She knows things that aren’t even published yet,” says Dr. Elizabeth Berry-Kravis, a doctor and professor of pediatrics and neurological sciences who is also the director of the RUSH Pediatric Neurosciences F.A.S.T. Center for Translational Research at Rush University Medical Center in Chicago. 

Berry-Kravis became the pediatric neurologist for Sasidharan’s now nine-year-old son, Ved Nambiar, in early 2024 after Sasidharan began focusing on gene therapy—and finally getting some answers. 

As Nambiar grew older, his symptoms persisted: He requires daily care for his bodily functions, does not speak, and sometimes has bouts of vomiting. But Sasidharan says he recognizes her, smiles, and is able to indicate some needs, such as when he’s hungry. 

She started testing Nambiar’s genes to see if he had any mutations, and an RNA sequencing test at last turned up the answer: Her son has an extremely rare genetic disorder called POGZ Syndrome, or White-Sutton Syndrome, caused by a mutation in a specific gene called POGZ. 

But her euphoria of discovery was muted: Only a few hundred people in the world had been documented with the disease, for which there was no known treatment. 

And with so few prospective patients, it wasn’t likely that there would be a treatment, at least one created by the mainstream medical community. 

“There’s no pharmaceutical company that would ever take it up,” Berry-Kravis says, “because there’s only 500 other patients in the world, so they can’t get money for it.” 

A cure, Sasidharan soon found out from the multiple support forums she joined, would have to come from families and private benefactors. Those same forums were filled with the parents of other children with rare, unfunded genetic disorders, often tied to specific genes such as ZTTK, KCNT1, KCNH1, and SLC6A1.  

There are 23,000 genes and about 10,000 known rare diseases. 

“But less than 5 percent have a [United States Food and Drug Administration-approved] treatment,” Sasidharan says. “If you have a rare disease, you’re kind of trapped. Nobody’s going to do anything for you; you have to run your battle.” 

Sasidharan has been running her battle for three years now—and has achieved some success. In 2024 she founded the and of scientific and medical professionals, including a Cornell University researcher who is studying the POGZ gene. 

Perhaps most importantly, she was able to secure funding from the Jackson Laboratory through its precision genetics grant to build a “mouse model,” which means breeding a mouse with the POGZ gene for genetic testing. 

It’s the first step in a multi-million-dollar process that other families have taken to try to produce a rare-disease treatment. 

“The speed she’s set all this up is very fast; she’s very tenacious,” says Berry-Kravis, who knows other families of rare disease patients who are also pursuing treatments. “There’s a group [of families] that are the real pushers and movers, where it has a chance of it actually happening. And she’s definitely in that group. I think we’re entering a whole new age for this kind of thing, and there’s no real precedent for it. There’s no way for them to fix their kid without doing it on their own. They learn everything about it; it’s really pretty amazing actually.” 

For now the hard part is the fundraising, for which Sasidharan has netted $50,000 so far. But she says she is now focused on that in earnest.

“We [families] strongly believe that if you invest in rare diseases, that can be applied to more common conditions. It could have groundbreaking potential to improve Alzheimer’s, autism,” Sasidharan says, pointing out that the POGZ gene is one of the top 10 genes for autism risk. “In solving this, we may also be solving for a portion of autism.” 

The efficiency with which Sasidharan created her foundation might not come as a surprise to those familiar with her professional career, which started out in software engineering but soon branched into program management as both a consultant and full-time team lead. 

Born and raised in the southern India district of Kozhikode, Sasidharan received a software engineering degree from India’s LBS College of Engineering and went onto work in Technopark Trivandrum, a technology district that serves as south India’s Silicon Valley. After working for four years as a software engineer for Tata Elxsi, she got married and moved to the Chicago area. 

Wanting to get into IT project management, she received her 91��Ƭ�� Tech degree and secured a job as an IT project manager for R. R. Donnelley, where she worked for years before starting work as a consultant for several companies. She is now vice president of the enterprise program management office at APCO Holdings, an automotive finance and insurance product provider. 

But her second job, as soon as she returns home to her son, remains her primary passion.

“I believe this will be the future of health care,” Sasidharan says. “Who’s driving every step of this process? Patients are. For rare conditions, you have to create your own pathway. All the problems in developing the drug, it’s the patient’s problem. 

“It’s all on us.”

—Tad Vezner