Discovery Programs

Early-stage research exploring assets across several rare diseases is ongoing.

Among these therapeutic targets is NGLY1 deficiency, a rare and debilitating monogenic disease characterized by developmental delays, seizures and an inability to produce tears. There are currently no approved therapeutic options for NGLY1 Deficiency.

The National Center for Advancing Translational Sciences (NCATS), Therapeutics for Rare and Neglected Diseases (TRND) Biology Laboratory, along with patient foundation, NGLY1.org, and biopharmaceutical company Retrophin, Inc. are collaborating on a research plan to develop different assays for small molecule high-throughput screening in both an effort to better understand the biology of the disease, as well as identify potential small molecules to be developed as a therapeutic for patients suffering from NGLY1 Deficiency.