UC San Diego launches gene therapy initiative with help of $5 million gift from family’s foundation

A newly announced $5 million donation to UC San Diego that will support a new gene therapy initiative illustrates the value of making good on big promises.

The contribution is the latest from philanthropists Nancy and Jeff Stack of Orange County, who started working with UCSD molecular geneticist Stephanie Cherqui in 2007. Cherqui said she thought she could create a cure for cystinosis — a disease that causes an amino acid called cystine to build up in the body’s cells, eventually causing fatal organ damage.

Concerned about the survival of their daughter, Natalie, who had been diagnosed with the disease, the Stacks helped fund Cherqui’s early research. That pre-clinical seed funding turned into a $12 million grant from the California Institute for Regenerative Medicine. That allowed a six-person clinical trial launched in 2019 to test Cherqui’s genetically modified blood-forming stem cells, which contain working copies of the defective gene that causes cystinosis.

Thus far, Cherqui said, the approach has slowed amino acid buildup for trial participants. Though Natalie recently had to resume taking medication for the condition, all other participants have been able to remain drug-free.

The research had enough promise that biotech firm Avrobio Inc. sublicensed it in 2017, then sold those rights this year to drug giant Novartis for $88 million.

Investigating cystinosis — which is estimated to affect one in 100,000 to 200,000 people — revealed how stem cells can transform into forms that transport harmful materials into cells.

Understanding the mechanism of action for cystinosis has turned out to be relevant to treating Friedreich’s ataxia, another inherited rare disease than affects one in 40,000 people, Cherqui said.

“At the end of the day, what you learn from discovering the mechanism of action for one rare disease, you learn that it can be applied to so many,” she said. “There are more than 7,000 known rare diseases and, if you add them all together, it’s hundreds of millions of people worldwide.”

But relatively few of the known genetic diseases have corresponding treatments, making the Stacks a rarity in that they have seen their child, who was not expected to survive adolescence, reach age 32 and thrive as a social worker.

They found themselves driving south to UC San Diego in La Jolla in 1991 shortly after Natalie’s diagnosis, referred to the now-late Dr. Jerry Schneider, who their pediatrician assured them was the world’s foremost expert on cystinosis.

Being successful in business, it wasn’t long before the Stacks created a cystinosis foundation and began raising cash to fund research. Today, the total is about $67 million, Nancy Stack said.

First, the cash helped develop a long-lasting version of cysteamine bitartrate, a drug that had to be taken every six hours to keep amino acids at acceptable levels. Eventually, investments in what looks like might be a cure bore fruit.

It’s an experience the couple say they want more families to have.

“Hopefully this can help bring hope to the many, many families — children and adults — with other diseases and disorders,” Nancy Stack said.

UC San Diego researcher Stephanie Cherqui stands with patient Jordan Janz in her lab in 2019.

(Associated Press)

The couple said their work with UCSD researchers made the decision easy as to where a donation should be made.

“Stephanie said initially she thought she could find a cure for cystinosis,” Jeff Stack said. “Most people didn’t believe that, but she in fact did find what appears to maybe be a cure for this disease. Maybe it’s not absolute at this point, but we believe it will be.

“When you have already worked with somebody who’s so brilliant, so hard-working and so driven, why would you try to find anybody else?” ◆