The funding will allow AGTC to continue development of its Phase 2 program in Alpha-1 Antitrypsin Deficiency (Alpha-1) and initiate full development of potential treatments for two orphan ophthalmology indications, Achromatopsia
(ACHM) and X-Linked Rentinoschisis (XLRS).
To indicate how important this area is for colour vision; damage to V4 causes cortical colour-blindness, otherwise known as cerebral achromatopsia
Diagnosed with achromatopsia
at eight weeks old, the rare genetic condition means she is registered blind.
Twins Nerys Parry and Nesta Jones and their older sibling, Rhian Thomas - all have sons with genetically inherited achromatopsia
Researchers have now pinpointed a mutation that results in achromatopsia
in these people in a gene called CNGB3.
The collaboration will focus on development of treatments for two of the more common genetic retinal diseases that cause blindness at a very early age: X-Linked Retinoschisis (XLRS) and Achromatopsia