The Cystinosis Research Foundation: A Journey of Hope and Progress

In 2003, inspired by a deeply personal connection, Nancy and Geoffrey Stack established the Cystinosis Research Foundation (CRF) in Irvine, California. Their motivation stemmed from a heartfelt wish made by their daughter, Natalie, who was battling cystinosis—a rare genetic disorder that severely affects various organs, including the kidneys, eyes, liver, and brain. As Natalie turned 12, her wish was simple yet profound: to eliminate her disease and spare other children from suffering. The foundation has since become the leading entity for cystinosis research funding globally, with remarkable achievements reflecting its impact.

From the outset, one of the foundational principles of the CRF was transparency and efficiency. Remarkably, 100% of donations made to the foundation directly fund research initiatives. This remarkable commitment means that every dollar contributed goes towards the pursuit of a greater understanding and potential cures for cystinosis. To facilitate this, operational costs are covered by private underwriting, ensuring that the focus remains solely on research and its development. This operational transparency fosters trust and encourages both individual and corporate contributions, amplifying the foundation’s capacity to make impactful advancements.

Since its inception, the CRF has raised over $73 million, a significant testament to the relentless determination of the Stack family and their supporters. These funds enable extensive research efforts and collaborations across the globe. The foundation has backed projects in 13 countries, uniting researchers and scientists in the quest to find innovative treatments and ultimately a cure for cystinosis. This global outreach underscores the foundation’s commitment to not only local advancements but also international collaboration, broadening the horizons of cystinosis research.

One of the notable achievements facilitated by the CRF is the groundbreaking work of Dr. Stéphanie Cherqui, a San Diego-based researcher. With $6.6 million in grants provided by the CRF, Dr. Cherqui developed a stem cell transplant treatment that has shown promising results in clinical trials. This cutting-edge approach represents hope for those affected by cystinosis, showcasing the direct impact of funding on scientific advancement. Such advancements not only transform the lives of those battling cystinosis but also contribute meaningful insights into similar genetic disorders.

The successes of the CRF extend beyond research funding; the foundation has played a critical role in the development of an FDA-approved drug specifically for cystinosis. This breakthrough has been life-changing for many patients, providing them with a new avenue for treatment and management of their condition. In addition, the foundation spearheaded an FDA-approved clinical trial for a potential cure, further highlighting its commitment to advancing both treatment and long-term solutions for cystinosis patients.

The story of the Cystinosis Research Foundation is one of resilience, hope, and community. From a single family’s wish to a global initiative, the foundation continues to inspire and enact change within the cystinosis community. It serves as a beacon of hope, driving research that can ultimately transform lives, fulfill Natalie Stack’s wish, and ensure that future generations may not have to suffer from cystinosis. As the foundation continues to make strides in research and advocacy, it exemplifies the power of compassion coupled with action in the relentless pursuit of a cure.