The Human Face of ABCC6

FEBS Letters

article

Sharon F. Terry¹ 

[1] Genetic Alliance, PXE International

关键词: ABC transporters;    ABCC6;    advocacy;    citizen science;    eye disease;    genetic disease;    Pseudoxanthoma elasticum;    skin disease;    WikiAdvocacy;   

DOI  :  10.1002/1873-3468.14002

来源: John Wiley & Sons Ltd.

【 摘 要 】

Researchers working on basic and translational clinical science related to ABC transporters are enthusiastic and dedicated investigators. As the field has grown, so has its contribution to human disease. Pseudoxanthoma elasticum (PXE) International, an advocacy organization established by non-scientists, began supporting research and convenings on these transporters, specifically ABCC6, the gene associated with PXE, 20 years ago. As a patient advocacy organization, we have spent more than 25 years creating a large research consortium, initiating, funding and conducting research. Years of basic modelling and vigorous hypothesis testing have resulted in some important advances leading to clinical trials. The synergy of basic scientists, lay advocates, clinicians and translational scientists has dramatically accelerated research on PXE and progress towards better and more effective treatments for PXE patients.

【 授权许可】

Unknown