Discover deeper neuroscience insights
No matter how complex the research question or the neurological disorder of interest, PacBio HiFi long-read sequencing enables you to see what has been nearly impossible with traditional technologies.
After many years of research, relatively little is known about destructive neurodegenerative diseases such as Parkinson’s, ALS, and Alzheimer’s Disease. Due to their complexity, these diseases can be difficult to decipher, and other technologies often miss important information such as structural variants, repeat expansions, methylation, and RNA isoforms.
Most of these diseases have only been studied at the genetic level using short-read sequencing or microarray data, meaning that many critical insights are missed. This information can include complex genetic structures that help point researchers to therapeutic targets and uncover information related to population diversity of inherited protective mechanisms. Being able to uncover this important genetic information can mean the difference between years of costly exploration or resolving unique complexities within days.
PacBio is committed to helping researchers like you move neurodegenerative disease research forward with our multiomics solutions. Learn more about how your research can be supercharged to achieve groundbreaking results.
Explore the range of neuroscience applications
Targeting sequencing
Targeting sequencing of candidate genes with pre-designed capture panels or long-range PCR to enrich and sequence multi-kilobase fragments
Variant detection
Variant detection to phase alleles and screen for variants including SNPs, complex structural variants like repeat expansions, and long homopolymers
RNA sequencing
RNA sequencing of full-length isoforms of disease-relevant genes to characterize the complete landscape of gene-specific transcripts
On-demand webinar
SOLVING MYSTERIES TOGETHER
Two scientists use whole genome sequencing and single-cell RNA sequencing to shed light on and unravel neurological medical mysteries in Downs Syndrome and Autism.
Application note
Explore how you can get more from your Neurobiology Research and move closer to your goals with HIFI DNA and Kinnex RNA
Learn how HiFi long-read sequencing can remove blind spots for important information such as structural variants (SVs), repeat expansions, and RNA isoform information.
Spotlight
Read this exciting paper where researchers were able to characterize the risk and protective mechanisms of the TMEM106B Haplotype in centenarians
In this study researchers performed HiFi WGS on 92 Alzheimer’s Patients and 117 Healthy centenarians from the Amsterdam Dementia Cohort. Using HiFi sequencing they were able to identify an AluYb8 retrotransposon in the 3’ UTR of the risk Haplotype TMEM106B.
Simultaneous methylation information shows TMEM106B haplotypes carrying the ALUYb8 element are more methylated than those without. They were also able to deciper that TMEM106B haplotype sequences are different between African and European genomes; possibly explaining difference in disease risk between both populations.
These results could not have been achieved using a short-read technology.
Blog
Isoform level information leads to the development of novel ASOs for Parkinson’s disease
HiFi long-read sequencing provides highly accurate multiomic data for nearly all areas of the genome. Expand the promise of what you can discover to include nearly all variant types and full-length transcripts at isoform level.
Learn more how a recent study used HiFi sequencing to identify a promising region in SNCA transcripts relevant to Parkinson’s Disease and used this information to design and test a novel antisense oligonucleotide (ASO), a small, synthetic molecule with treatment potential by altering protein expression.
Biopharma applications
Interested in seeing how you can accelerate your research and development for neurological diseases in the biopharma setting?
Diseases of the nervous system such as Alzheimer’s or Parkinson’s disease are widespread and can be devastating, yet we still lack effective diagnostic and therapeutic tools to address many of them.
One of the reasons for this is that the tools that have been used (such as short-read sequencing) are vulnerable to blind-spots in the data that are especially relevant to this therapeutic area and industry.
Highly accurate long-read sequencing has proven incredibly useful along the pathway to conduct Neurobiology research related to biomarkers, patient stratification and therapeutics.
- Identify potential drug targets and biomarkers quickly and confidently through identifying disease-associated variants that have been invisible with short-read sequencing methods such as structural variants or RNA isoforms.
- Develop novel and effective biologics by elevating your directed evolution approaches with longer regions to alter and optimize.
- Assess the potential safety and efficacy of gene and cell therapies such as AAV vectors or CRISPR-Cas9 gene editing.