ARVO 2019: Emerging Eloxx Molecules Show Promising Results in Usher Models
Eloxx Pharmaceuticals is developing small molecules that permit read-through of point mutations that cause Usher syndrome 1F and 2A.
Genes are the code that our cells read to make essential proteins that are required for cell function and survival. Mutations, or mistakes in the code, lead to missing or incomplete proteins, and ultimately, cell dysfunction and death. Gene mutations are what cause retinal cell dysfunction and death in inherited retinal diseases (IRDs).
Eloxx Pharmaceuticals is a clinical-stage biopharmaceutical company dedicated to the discovery and development of novel therapeutics to treat rare diseases—including cystic fibrosis, cystinosis, and inherited retinal disorders—caused by nonsense mutations that limit production of functional proteins.
Eloxx has entered into a partnership with the Foundation Fighting Blindness and is developing molecules that “read through” nonsense mutations, a type of mutation that, in simple terms, inserts a period too early in the genetic code. Scientists call these “premature stop codons” or PSCs. Eloxx’s library of molecules is designed to enable the cell to read through these PSCs, so normal protein can be produced.
In the accompanying video, Matthew Goddeeris, PhD, Eloxx director of research, discusses how an Eloxx molecule was able to read through PSCs that lead to Usher syndrome type 1F (PCDH15) and USH2A (USH2A). While the molecule is still at an early stage of development, its potential is promising.
Scientists believe that approximately 10 percent of all the gene mutations (across all known ~270 IRD genes) are nonsense. So, read through molecules have the potential to help many people.
Dr. Goddeeris presented the Eloxx Usher research at the 2019 annual meeting of the Association for Research in Vision and Ophthalmology (ARVO) taking place in Vancouver, Canada, on April 28 - May 2, 2019.