MORE THAN JUST HOPE
We are breaking research barriers to advance treatment for UBA5, a debilitating ultra-rare genetic disorder.
In doing so, we are pushing forward medical breakthroughs like gene therapy that can help millions of kids suffering from rare diseases around the world.
Meet Dr. Ciechanover
2004 Nobel Prize award winner in Chemistry for the discovery of ubiquitin pathway (of which UBA5 is a part of) and a member of our Scientific Advisory Committee.
"The discovery of the ubiquitin system was driven by sheer curiosity – how the cell degrades its own damaged proteins and those [proteins] that have completed their role.
But as happens frequently, curiosity led to the discovery of numerous diseases caused by aberrations in the [ubiquitin] system, and subsequently to discovery of drugs to combat some of them including cancer. It is now our role to complete the cycle and discover remedies to the still orphan diseases – UBA5 mutations among them."
Learn more about the importance of the ubiquitin system