When Medicine Fails, She Doesn’t. Meet the Doctor Fighting to Save Forgotten Children.

June 12th, 2025

A few weeks ago, I spoke at a biotech incubator event hosted by QB3 at UC Berkeley. The room was filled with brilliant scientists—many of them early-stage founders navigating how to raise capital from family offices and mission-driven investors. The energy was sharp, the ideas bold, but one conversation stood out.

After my talk, a doctor approached me. She wasn’t pitching a product. She wanted to talk.

Her name was Dr. Julie Saba, MD, PhD, the John & Edna Beck Chair in Pediatric Cancer Research and Professor in Residence in the Department of Pediatrics at University of California San Francisco. What she shared stayed with me.

Julie is a pediatric oncologist and cell biologist who has spent over 30 years studying a single enzyme: S1P lyase—a molecule most medical students forget after their exams. But not Julie. She stayed with it. That enzyme, it turns out, holds the key to understanding a deadly, previously unnamed genetic disease in children. Julie was the first to give it a name: BLIS—S1P Lyase Insufficiency Syndrome.

BLIS is caused by mutations in the SGPL1 gene, which prevents the body from breaking down sphingolipids—a class of fat molecules essential to cell function. When they accumulate, they create a cascade of damage: kidney failure, hormone collapse, neurological deterioration. Most children born with BLIS don’t survive.

And for years, there was no protocol. No cure. Not even a path forward.

One Scientist, One Mission

While most researchers moved on, Julie kept going. She built multiple animal models. She tracked down families with BLIS across the globe. And when she realized she might be the only scientist with the tools and knowledge to act, she took the next step.

She developed a gene therapy.

In her lab, newborn mice with BLIS—previously doomed to die within weeks—are now living six months or more. Some survive nearly a year. Her team increased the delivery efficiency of the therapy to the kidney (the primary failing organ in BLIS) by over 100 times.

Julie didn’t stop there. She founded a company, Sphyxion, in 2024 to bring this therapy into clinical use. She’s raised over $8 million in non‑dilutive NIH funding and is preparing for first‑in‑human trials.

What struck me most is that for Julie, this work isn’t abstract. She has sat with the families. She’s had the impossible conversations. She’s lost patients. And she’s determined not to let it happen again—not without a fight.

Why You Should Care—Even If You’ve Never Heard of BLIS

BLIS is a rare disease. Ultra-rare. Based on genetic prevalence, it’s estimated that only 10,000 to 20,000 people worldwide may have it. But the enzyme involved—S1P lyase—is implicated in far more common conditions. Particularly those involving fibrosis: the scarring and dysfunction of organs.

Julie’s therapy has already shown promise in lung fibrosis models. The implications go far beyond rare disease:

• Chronic kidney disease

• Liver fibrosis

• Heart fibrosis

• Post-COVID lung fibrosis

What began as a mission to save a small number of children may evolve into a platform for treating some of the world’s most pressing chronic conditions.

Why This Matters for Philanthropists and Investors

In my work with global families and foundations, I’m often asked the same two questions:“How do we create meaningful impact?”“Can we still generate returns while doing it?”

Julie’s work offers a rare chance to say yes to both.

This is a story where:

• The science is grounded and clear

• The preclinical data is strong

• The clinical path is defined

• The underlying mechanism is relevant to multiple disease areas

• The company has non-dilutive support from NIH and a dedicated founding team

Julie isn’t asking for blind faith. She’s publishing. Winning awards. Building the right foundation. And now, she’s inviting the right partners to help take the next step.

For investors—especially family offices considering early biotech—this is not about writing a $10 million check. Sometimes, the right early-stage capital is targeted, patient, and mission-aligned. With a little courage, it can also deliver disproportionate rewards.

Why Now

Timing matters. Julie is gearing up for her first-in-human trial. If successful, it will not only bring hope to families affected by BLIS—it will validate a fibrosis therapy platform with massive downstream potential.

The biotech sector in the U.S. is alive and well for a reason. There’s infrastructure. There’s capital. And there are clear exit paths, whether through M&A or IPO. Many family offices—especially outside the U.S.—still view this space as high risk. But what’s often missing is visibility, not viability.

Julie doesn’t need the crowd. She needs the right few.

What You Can Do

If you lead a foundation, this is a direct path to measurable, high-impact change. You’re not just backing science—you’re helping children who currently have no options.

If you’re an investor, don’t let the term “rare disease” distract you. This is how innovation starts: with a small problem, solved well, that unlocks a new understanding for much larger ones.

And if you’re like me—someone who believes in backing people as much as platforms—Julie’s story is one to watch.

Final Thoughts

Something about Julie’s mission stayed with me. Maybe because I’ve seen the gap between medical innovation and funding too many times. Or maybe it’s because I believe that some of the most meaningful breakthroughs don’t begin in large institutions—but in the quiet, relentless determination of someone who refuses to quit.

If this resonates with you, take a moment to read more. Ask questions. Share her story. You never know what might come from supporting a mission like this.