13 July 2017
“There is ample evidence that pinpoints neurodegenerative disorders as one of the greatest threats to public health,” begins a 2014 report from the World Health Organization (WHO). But despite international awareness of the burden associated with caring for individuals with neurodegenerative disorders, little is known about either the underlying risk factors for the disorders or the precise mechanisms involved in disease progression. A new Illumina product, TruSeq® Neurodegeneration Panel, aims to help researchers study neurodegenerative diseases by identifying rare risk variants in both coding and noncoding regions of the targeted genes that are thought to be associated with neurodegenerative disorders. Such genetic variants may shed light on neuropathological onset and progression, and eventually contribute to effective treatment.
The TruSeq Neurodegeneration Panel targets 118 genes selected with input from a group of 16 leading neurodegenerative researchers and includes broad coverage of diseases such as Alzheimer’s, Parkinson’s, Amyotrophic Lateral Sclerosis (ALS), and other neurodegenerative disorders, offering a significant cost savings to researchers as compared with the more conventional method for studying noncoding regions of the human genome, whole genome sequencing.
“The majority of common risk variants associated with neurodegenerative diseases have been identified by genome-wide association study (GWAS). The remaining risk variants are likely to be rare, and their discovery requires screening of tens of thousands of samples,” shared John Hardy, Professor of Neuroscience at UCL. “A targeted sequencing panel allows the systematic investigation of known disease genes and GWA-linked loci, including non-protein coding regulatory sequences, efficiently and cost-effectively. The sequencing panel also provides genetic information through fine mapping of GWA signals, identifying the functional risk allele(s), and detecting additional risk at the same locus.”
TruSeq Neurodegeneration Panel enables excellent identification of novel rare variants related to neurodegenerative diseases and investigation of common genetic pathways underlying multiple neurodegenerative diseases. The streamlined workflow allows easy library preparation using Nextera® Rapid Capture workflow, sequencing on Illumina instruments such as the NextSeq® or HiSeq® Systems, and data storage and analysis in BaseSpace® Sequencing Hub, the Illumina cloud-based genomics computing environment.
To learn more about TruSeq Neurodegeneration Panel, please visit: https://www.illumina.com/science/consortia/human-consortia/neuro-panel-consortium.html
For Research Use Only. Not for use in diagnostic procedures.
 Singleton A, Hardy J. The Evolution of Genetics: Alzheimer's and Parkinson's Diseases. Neuron. 2016 Jun 15;90(6):1154-63.