Electronic BioSciences (EBS) will investigate and develop methodologies to sequence microsatellite regionswithin the human genome to enable cancer genotyping via a true single-molecule, ultra-high-accuracy approach.Microsatellites are simple/short repeats (1-10 nucleotides in length) that occur in tandem 5-50 times and areamong the most variable types of DNA sequence in the genome. Mutations to these microsatellite regions, orwhat is referred to as microsatellite instability (MSI), includes expansion or contraction of the repeat number,single nucleotide polymorphisms (SNPs), and/or insertions or deletions (indels), which have been documentedwith all current types of cancer. Unfortunately, current sequencing technologies, including both next generationsequencing (NGS) and third generation sequencing (TGS), are not capable of sequencing microsatellites andMSI with any sort of clinically relevant accuracy or precision due to limitations with the methodology utilized,which has significantly hindered the understanding of these types of sequences. During this Phase I SBIRprogram, EBS will focus on developing a new platform and sequencing approach specifically aimed atmicrosatellites. The investigations performed during this program will enable new approaches to probemicrosatellites, MSI and the human genome in general, directly improving basic cancer research and ultimatelyenabling vastly improved clinical diagnostics and/or prognostics technologies.
Public Health Relevance Statement: Project Narrative
This program is aimed at developing a direct, electrical, nanopore-based, true single-molecule, ultra-high-
accuracy sequencing technology/methodology, specifically for microsatellite sequencing and microsatellite
instability assessments to enable cancer research, diagnostics, prognostics, and therapy determinations. As a
specific example, the third most common cancer in men and women in the US currently is colorectal cancer,
which results from quite variable genetic differences that include the presence or absence of microsatellite
instability; the technology developed during this program will become the go-to diagnostic tool when making
colorectal cancer treatment decisions. Ultimately, by developing technology that far outpaces current state-of-
the-art, we will enable a vastly improved understanding of cancer-driving mutations and general knowledge of
the genome such that human health and patient care will be greatly improved.
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