Vincenzo Silani
University of Milan Medical School, Italy
Title: Precision medicine in ALS: an application encompassing neurodegeneration
Biography
Biography: Vincenzo Silani
Abstract
ALS is still a progressive and uniformly fatal neurodegenerative disease: extraordinary progress in understanding the biology of the disease and the number of genetic factors identified provide new reason for optimism that meaningful therapies will be soon applied firstly in patients with a genetic basis. Cases of ALS with C9orf72 mutations are so frequent both in familial and sporadic patients to justify a personalized treatment: the antisense oligonucleotide against SOD1 (another critical gene in familial ALS) delivered intrathecally for patients with SOD1 familial ALS in a phase 1 trial demonstrated no safety or tolerability concerns (Miller et al., 2013). Furthermore, C9orf72 is critical also for Frontotemporal Dementia (FTD), being one of the leading causes of the disease. Precision medicine applied to the ALS/FTD patients carrying a C9orf72 mutation may represent a proof of principle for the extraordinary role of precision medicine in neurodegenerative diseases. Further supporting this application, antisense oligonucleotide are able to reverse pathological features in neurons derived from iPS cells or in fibroblasts obtained from C9ALS/FTD patients, providing an elegant model for a parallel in vitro and in vivo precision medicine. Converging efforts tend to suggest that precision medicine applied to ALS/FTD will soon lead to successful strategies for attenuating the lethal course of both disease.