Few weeks ago, I became the first person in the UK to have the entire ABCA4 gene injected into the retina.
I don't know what my vision will look like on the other side. But I know the first thing I want to do.
Go to the cinema.
If you're navigating Stargardt's, this one's for you.
#Stargardts #ABCA4

Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease - PubMed Stargardt disease is the most common form of early onset macular degeneration. Mutations in ABCA4, a member of the ATP-binding cassette (ABC) family, are associated with Stargardt disease. Here, we ha...

#tbt #sciencefacts
In this #experimentalstudy, we demonstrated that certain #CFTRmodulators rescue misfolded variants in #ABCA4, a protein involved in macular degeneration. These may represent promising #therapeutics for #Stargard #eyedisease 🧑🏻‍🔬🧬💊
#drugdevelopment

pubmed.ncbi.nlm.nih.gov/26092729/