Celena Lozano’s son Benny, who turned 5 in November, loves trains, trucks — anything that goes. He also has a rare disease, PURA syndrome.
Earlier this year, when headlines announced that a child with a different rare disease, known as Baby KJ, had been treated using CRISPR in a major breakthrough, Celena found that many in the PURA community had major questions, with comments like “This happened in just six months. When will this be available for our PURA kids?” appearing on Facebook groups.
As a neuroscience Ph.D. candidate at the University of California, Davis, Celena has taken on a role as something of an ambassador and translator between the scientists working to treat rare diseases like PURA syndrome and the families hoping for miracles.
“There was a clear gap in communication surrounding the topic, and I really wanted to be able to provide parents of children with rare developmental disorders like PURA syndrome [with] the opportunity to learn more about what exactly Baby KJ’s gene editing therapy meant for the rare disease community,” she told me on this episode of the “First Opinion Podcast.”
I spoke with her and Jason Mast, a STAT general assignment reporter (and Celena’s mentor in a National Association of Science Writers program). We discussed why CRISPR for PURA syndrome is particularly difficult, what it’s like to be both a rare disease parent and a scientist, and how crucial parents are to research.
“Caregivers and patients with rare diseases really don’t fully understand how involved and engaged they must be in their community to advance science and research,” Celena said.
Our conversation was based on Celena’s recent First Opinion essay, “Parents of children with rare diseases ask: How long until our CRISPR miracle?”
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