Richard
@rheumoore.bsky.social
PhD Candidate 🕸️🦠🔬
Cedars-Sinai, Los Angeles, CA
Cedars-Sinai, Los Angeles, CA
Reposted by Richard
In new study, Simchoni et al. from Anthony Shum's lab (rupress.org/jem/article/...) 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. More from UCSF News: www.ucsf.edu/news/2025/02...
1 Gene Variant Is Poised to Cure a Devastating Inherited Disease
COPA syndrome causes lung hemorrhaging starting in childhood. But one in three people with the disease mutation are spared. UCSF scientists have discovered how a separate gene variant protects those r...
www.ucsf.edu
March 3, 2025 at 3:35 PM
In new study, Simchoni et al. from Anthony Shum's lab (rupress.org/jem/article/...) 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. More from UCSF News: www.ucsf.edu/news/2025/02...