This study, using a novel bimodal PCR assay capable of amplifying nearly 100% of GC-rich sequences, provides comprehensive genotyping of the C9orf72 repeat region for over 2000 ALS samples collected in the National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center.
read moreThis study, published in bioRxiv, developed two collapsing strategies. The new analyses not only pinpoint risk regions in known genes but also highlight candidate genes as well.
read moreMiRNAs identified in this study could potentially be used as disease biomarkers and for the development of novel therapeutic approaches.
read moreThis study, using a large-scale genome-wide association framework and exome sequencing, identified KIF5A as a novel gene associated with ALS.
read moreThe identification of targets that effectively modulate vesicle trafficking in neurons, glia and myeloid cells could hold tremendous therapeutic value for C9ORF72 ALS and FTD and other CNS disorders.
read moreThis study, published in the journal Neuron, identifies a rare mutation found in ALS/FTD cases. These findings reinforce the importance of disturbed RNA metabolism in ALS/FTD and place altered membrane-less organelle dynamics at the center of ALS/FTD pathogenesis.
read moreThis study, published in Neuroscience, identifies risk pathways associated with Parkinson’s disease, using Genome-wide pathway-based association analysis.
read moreA study published in the journal of Parkinsonism and Related Disorders used Genome-Wide Complex Trait Analysis (GCTA) to estimate the heritable component of Multiple System Atrophy (MSA) due to common coding variability in imputed genotype data of 907 MSA cases and 3866 population-matched controls.
read moreRepresentatives from the NINDS Repository joined scientific colleagues from 66 different countries at the 2016 ASHG annual meeting in Vancouver, Canada and more than 30,300 attendees from 80 countries at SfN's Neuroscience in San Diego, November 12-16, 2016.
read moreA study published in the European Journal of Genetics identified a subset of rare non-synonymous coding variants in the GNPTAB, GNPTG, and NAGPA genes that may account for as much as 16% of persistent stuttering cases.
read more