NU 2013-046
Inventors
Faisal Fecto
Teepu Siddique*
Short Description
Novel diagnostic biomarker for amyotrophic lateral sclerosis (ALS)
Abstract
Northwestern researchers have identified a novel gene, SQSTM1, for potential use in development of diagnostic tools for ALS. Presently, patients are diagnosed based on clinical, electrophysiological and pathological features, which are typically difficult and time-consuming practices. In their recent study, Prof. Siddique and colleagues identified ten different mutations in SQSTM1 that are associated with both sporadic and familial forms of ALS. This enhanced understanding of the genetics behind ALS offers opportunities to design molecular diagnostic tools that are both faster and more specific. Furthermore, since SQSTM1 protein is involved in protein recycling and autophagy, this discovery could also further rational drug design efforts aimed at curing or treating ALS.
Applications
Advantages
Publications
Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, Donkevoort S, Ajroud-Driss S, Sufit RL, Heller SL, Deng H-X, Siddique T (2011) SQSTM1 Mutations in Familial and Sporadic Amyotrophic Later Sclerosis. Archives of Neurology. 68: 1440-1446.
IP Status
US patent applications have been filed.