CHOC earns $1 million grant to advance rare disease genome-editing therapy

With an aim of addressing a critical and unmet need in rare disease research, CHOC Children’s will advance rare disease genome editing therapeutics, thanks to a $1 million grant from The Larry and Helen Hoag Foundation.

The funding will help form CHOC Children’s Center for Advancing Rare disease Editing (CARE), allowing researchers to further their work to use genome editing to rapidly generate, characterize and treat preclinical models of rare disorders with known pathogenic mutations.

Genome editing therapy has the potential to permanently correct underlying pathogenic mutations in patients with some rare diseases. This treatment addresses the root cause of the disorder, eliminating the need for more standard therapies like enzyme replacement and stem cell transplantation that often require repeated treatments.

“CHOC is at the forefront of operating at the interface of translational research and clinical care of rare disorders,” said Brent Dethlefs, executive director of the CHOC Children’s Research Institute. “Our ultimate goal is to provide patients with rare diseases with an objective, rigorous assessment of whether genome editing therapy has the potential to advance their current standard of care.”

The work will build upon CHOC’s existing successes in developing preclinical models of rare diseases. For example, CHOC’s lysosomal storage disorders research team has already generated the first preclinical models of Pompe disease – a rare and fatal disorder that affects the heart and muscles – that are suitable for genome editing therapy and exhibit molecular, biochemical and functional analogy to patients with the severe infantile-onset form of the disease.

“Given the success of this project, we have received multiple inquiries from research colleagues seeking to collaborate and patient advocacy groups hoping to generate additional preclinical models of rare disease, but until now, we’ve never had the resources to participate,” CHOC scientist Dr. Jeffrey Huang said. “We believe that CARE has the potential for rapid growth given the intrinsic scalability of genome editing as a strategy to generate preclinical models and develop novel therapeutics.”

The Hoag Foundation funding complements a grant CARE recently received from the CHOC Children’s Foundation’s One Wish Grants awards. The grant awards unrestricted funds to outstanding ideas that drive advancement toward CHOC’s strategic goals.

The mission of The Larry and Helen Hoag Foundation is to educate, empower and create greater opportunity for at-risk children to become independent, productive and contributing members of society; support medical research and technology to enhance the health and well-being of children; and support such other compelling purposes that will enhance the quality of life for residents in Southern California.

Learn more about the CHOC Children’s Research Institute.