As the parent of a child with a rare genetic disease, Celena Lozano saw the hope that reports of a breakthrough treatment bring. As a graduate student in neuroscience at UC Davis, she knows that the road to effective treatments, let alone 'cures' for most such diseases, will be long and frustrating. Clear and nuanced communication about what research and clinical studies actually mean for patients is needed, .
Earlier this year, the Children's Hospital of Philadelphia , 'KJ' with a CRISPR-based treatment for a genetic defect in his liver.
When KJ's liver problem was identified soon after birth, the CHOP team sequenced his genome, identified the problem -- an error in DNA that left him with a defective enzyme called CPS1. They were able to design a treatment that used CRISPR gene editing to correct the error in his liver. The only alternative treatment would have been a liver transplant.
Lozano is the mother of a child with PURA syndrome, a rare genetic disorder only described in 2014. News of KJ's treatment caused great excitement in the PURA community.
But Lozano is also a studying for a Ph.D. in neuroscience at UC Davis and knows how complex genetic diseases can be -- especially disorders which affect development of the brain and nervous system, like PURA and many others. And as a first generation student (having also earned her undergraduate degree at UC Davis' College of Biological Sciences) she understands the gulf of knowledge between scientists with deep in complex fields and their friends and relatives.
"For families of the pediatric rare disease community, headlines drive elevated hope and excitement. But they also lead to heightened expectations and emotional strain for those facing more complex rare diseases," she writes.
Scientists, clinicians and the media all have a responsibility to be clear about the nuances and limitations while celebrating treatment breakthroughs, Lozano says.
Read the full story .
Media Resources
(STAT News)
(Children's Hospital of Philadelphia)