5 Slides: Gene therapy and rare disease treatment


Aaron Kunkler


Rare disease treatment and gene therapy were the topics of a State of Reform 5 Slides We’re Discussing panel. 

Gene therapy is a form of treatment where genes are inserted into the cells of a patient, instead of relying on drugs or surgery. The therapy may be especially promising for rare diseases. 


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Rare diseases are defined as any disease, disorder, or illness that affects fewer than 200,000 people in the U.S. Cumulatively, it’s estimated that up to 30 million Americans have a rare disease, or nearly one in 10. About 80% of rare diseases have a genetic cause, and nearly all of them have limited or no approved treatment options. Oftentimes, these diseases emerge in childhood. 

Jennifer Hodge, U.S. Rare Neurology Medical Team Lead for Pfizer, said during the panel that gene therapy could get to the root of these problems. 

“We’re really saying what is the disease, what is the gene, where is the mutation, and how can we go in and correct it?” 

Two significant conversations surrounding gene therapy were discussed: cost and regulations. 

Ryan Fischer, chief advocacy officer with Parent Project Muscular Dystrophy, said there’s much education that needs to be done at the federal level to inform lawmakers on rare disease. At the same time, the mapping of the genome has opened new doors for research and future treatments. 

At the state level, Carolina Sommer, founder of the Northwest Rare Disease Coalition, said they are trying to bring stories of people and families with rare diseases to Washington legislators. There is some promising legislation she supports, like the creation of a rare disease advisory council

On pricing, Fischer said the current generation of gene therapy treatments all cost more than $1 million. However, pricing these treatments can be difficult due to their one-time nature. Alternative payment systems could be created, like payment upon reaching a milestone, as opposed to up front. 

“I often think it’s difficult for patient advocacy groups and patients to be put in the middle on the cost of therapies,” Fischer said. “I think it’s a question that should be asked and talked about, and we should be talking about it collaboratively.”