Video: Gene therapy and the promise for rare disease


Eli Kirshbaum


Groundbreaking gene therapy treatments have tremendous potential to provide treatment to the around one in ten Americans living with rare diseases. But these game-changing therapies also bring with them new challenges, including how the individuals who need them most will get access to and be able to pay for these expensive treatments.

To tackle this issue, we convened a panel of health leaders with ample experience in rare disease treatment and gene therapy to talk through how our health system can approach paying for gene therapy. In our latest “5 Slides We’re Watching” conversation, Jennifer Hodge, PhD, US Rare Neurology Medical Team lead at Pfizer, Angela Ramirez Holmes, founder and president of Cal Rare, and Ryan Fischer, chief advocacy officer at Parent Project Muscular Dystrophy, discuss potential solutions to this complex issue.


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Hodge brought a slide that illustrated the benefits of gene therapy, including the potential for one-time treatments that can eliminate the need for ongoing therapies and reduce the long-term economic impact of treating rare diseases. She also listed some of the challenges to adopting widespread use of gene therapy, such as the need for rare disease specialists to deliver care and ensuring patients get appropriate and timely care. She said 95% of individuals living with rare diseases have limited or no approved treatment options.

“It really … makes the rare disease population, collectively, one of the most underserved communities in medicine today. And that, frankly, is unacceptable to me.”

Holmes focused on Medi-Cal’s role in rare disease treatment. Her slide cited that 51% of births in California are funded by Medi-Cal and 53% of the state’s children under five receive Medi-Cal coverage. She said Medi-Cal’s significant share of state health care coverage indicates the state needs to prioritize policies that make treatment accessible for Medi-Cal recipients with rare diseases.

“With nearly four million rare disease patients in California, we know that policy solutions will be needed. And if we don’t address the people that are covered by Medi-Cal, we will leave behind that piece of access for patients.”

Fischer shared a slide that detailed ways California can advance rare disease treatments: continuing to engage with rare disease experts, leveraging investments in data collection, and continuing patient-focused drug development (PFDD).

“[It’s important] that we recognize that we’re really part of one drug development ecosystem. It’s essentially a community of stakeholders living in conjunction with other components and their environment, all interacting as one system. We have to recognize that and recognize the needs of all stakeholders within that ecosystem.”