If you have never heard of cystinosis, consider yourself fortunate. It is a rare genetic disorder that strikes early and hard. Children are usually diagnosed before age two and often reach end‑stage kidney failure by age nine. They also experience damage to the eyes, liver, muscles, pancreas, and brain.

The mutation that causes cystinosis leads to toxic cystine buildup. There is no cure. One approved treatment can slow the disease but has serious side effects and does not prevent kidney failure or the need for a transplant.

UC San Diego researchers led by Stephanie Cherqui believe they have a better option—a one‑time, lifelong treatment. Yesterday, the CIRM Board approved more than $5.2 million for Cherqui’s team to complete preclinical testing needed for a clinical trial.

Their goal is to take a patient’s blood stem cells, genetically modify them, and return them to the body. The modified cells could deliver a healthy gene to affected tissues, replace diseased cells, and even rescue damaged organs.

In a news release, Randy Mills, CIRM’s President and CEO, said that orphan diseases like cystinosis deserve serious attention. “Current treatments are expensive and limited. We want to push beyond and find a life‑long treatment—one that could prevent kidney failure and eliminate the need for transplant. In this case, both the need and the science were compelling.”

If successful, this one‑time therapy could last a lifetime, reducing or eliminating kidney disease. The insights gained may also apply to other inherited multi‑organ degenerative disorders. successful, a one-time treatment could last a lifetime, eliminating or reducing kidney disease and the need for kidney transplantation. But it doesn’t stop there. The lessons learned through research like this might also apply to other inherited multi-organ degenerative disorders.