Large-scale computational drug repositioning to find treatments for rare diseases

Rajiv Gandhi Govindaraj, Misagh Naderi, Manali Singha, Jeffrey Lemoine & Michal Brylinski. npj Systems Biology and Applications 4, Article number: 13 (2018) doi:10.1038/s41540-018-0050-7

Computer-aided drug repositioning, i.e., finding new indications for existing drugs, is a cheaper and faster alternative to traditional drug discovery offering a promising venue for orphan drug research. Structure-based matching of drug-binding pockets is among the most promising computational techniques to inform drug repositioning. In order to find new targets for known drugs ultimately leading to drug repositioning, we recently developed eMatchSite, a new computer program to compare drug-binding sites. In this study, eMatchSite is combined with virtual screening to systematically explore opportunities to reposition known drugs to proteins associated with rare diseases.

Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India

Sowmya Devatha Venkatesh, Mahesh Kandasamy, Nagaraj S. Moily, Radhika Vaidyanathan, Lakshmi Narayanan Kota, Syama Adhikarla, Ravi Yadav, Pramod Kumar Pal, Sanjeev Jain, Meera Purushottam. J Genet (2018). doi:10.1007/s12041-018-0911-2

The prevalence of the syndromes of SCA varies across the world and is known to be linked to the instability of trinucleotide repeats within the high-end normal alleles, along with susceptible haplotype. We estimated sizes of the CAG or GAA repeat expansions at the SCA1, SCA2, SCA3, SCA12 and frataxin loci among 864 referrals of subjects to genetic counselling and testing (GCAT) clinic, National Institute of Mental Health and Neurosciences, Bengaluru, India, with suspected SCA. The most frequent mutations detected were SCA1 (n=100 (11.6%)) and SCA2 (n=98 (11.3%)) followed by SCA3 (n=40 (4.6%)), FRDA (n=20 (2.3%)) and SCA12 (n=8 (0.9%)).