UCSD launches gene therapy initiative with $5 million gift

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. The researcher said she thought she could create a cure for cystinosis — an awful 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 preclinical 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 the researcher’s genetically modified blood-forming stem cells, which contain working copies of the defective gene that causes cystinosis.

Thus far, the researcher said this week, the approach has slowed amino acid buildup for trial participants. While Natalie has 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 turned around this year and sold those rights to drug giant Novartis for $88 million.

Investigating cystinosis — which is estimated to affect 1 in between 100,000 and 200,000 people — revealed how stem cells transformed into forms that transported harmful materials into cells.

Understanding the mechanism of action for cystinosis, Cherqui said, has turned out to be quite relevant to treating Friedreich’s ataxia, another inherited rare disease than affects 1 in 40,000 people.

“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 so far discovered have corresponding treatments, making the Stacks a rarity in that they have seen their child, predicted not to survive adolescence, reach age 32 and thrive as a social worker.

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

Successful in business, it was not long before the Stacks created a cystinosis foundation and began raising cash to fund research. Today, Nancy Stack said, the total is about $67 million.

First, that 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 it might be a cure bore fruit.

It’s an experience that the couple says 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.

As to where a donation should be made, the couple said that their work with UCSD researchers made the decision easy.

“Stephanie said initially that 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 hardworking and so driven, why would you try to find anybody else?”