1 gene variant is poised to cure a devastating inherited disease
1 Gene Variant Is Poised to Cure a Devastating Inherited Disease
Scientists compared five families and multiple generations to find a gene variant that prevents COPA Syndrome and opens the door to a new gene therapy for the condition.
For more than 15 years, Anthony Shum, MD, a pulmonologist at UC San Francisco, has tried to understand the random path of devastation that a rare genetic condition carves through the families it affects.
While many of those who carry the mutation develop severe lung hemorrhaging as children others never get the disease ...













