The Jackson Laboratory shines light or rare diseases

Published: Feb. 27, 2023 at 5:51 PM EST
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BAR HARBOR, Maine (WABI) - Officially, Rare Disease Day isn’t until Tuesday. But it’s a topic on the minds of the folks at The Jackson Laboratory year-round.

“There are so many individuals with rare disease, and we just need their stories to be heard,” said Dr. Cat Lutz, vice president, Rare Disease Translational Center at The Jackson Laboratory.

Rare Disease Day, held annually on Feb. 28, raises awareness for the more than 7,000 rare diseases that impact millions of patients.

According to The Jackson Laboratory in Bar Harbor, 90% of those diseases don’t have an FDA-approved treatment.

Lutz is working to change that.

“I think I decided rare disease research was a calling of mine when I was working, maybe 16 years ago, in spinal muscular atrophy. Just realizing how slowly things were going, the lack of emphasis,” Lutz said.

Lutz and her JAX colleagues helped with development of Spinraza, which in 2016 became the first FDA-approved drug to treat patients with SMA.

“Spinraza was a success story for the entire rare disease community, not just individuals who had spinal muscular atrophy,” Lutz said.

That’s because Spinraza is what Dr. Lutz refers to as a “genetic medicine,” which treats diseases at the genetic level.

“So with that we can now take one therapeutic for SMA, iterate on SMA for sure, but use that as a template and as a playbook, if you will, for other genetic forms of rare diseases,” Lutz said.

She says there’s already been three drugs that have followed Spinraza, but there’s more work to be done.

Right now, JAX is working with more than 50 rare disease foundations and organizations, each waiting for a breakthrough of their own.

“I think that we’re all, I don’t want to say very hopeful because I think hope is a great word, but I think we’re confident that there are going to be therapeutics for these individuals in the near future,” Lutz said.

In honor of Rare Disease Day, JAX is lighting up each of its campuses in pink, blue, and green. If you want to check it out for yourself, the lights will be up through Friday.