Bionano Genomics, Inc. (NASDAQ: BNGO) are trading higher by 11.8% to $3.36 Thursday afternoon. The company Thursday morning today announced the publication of the first study to evaluate the utility of optical genome mapping (OGM) in the analysis of repeat expansion disorders.
Bionano Genomics says repeat expansion disorders are a class of disorders that impact approximately 1 in 3,000 people and are caused by expansions of short tandem DNA repeats.
What Happened?
In the study, Bionano Genomics says researchers screened 626 samples for the presence of (AAGGG)n repeat expansions in the RFC1 gene using a combination of PCR to detect repeat sequences, and OGM, to determine the size of the repeat expansions.
Bionano Genomics says OGM confirmed the presence of expanded RFC1 alleles in all cases where it was used as part of the workflow. Repeats identified using OGM were in the range of 800–1299 repeat units. OGM is well-suited for analyzing large repeat expansion disorders that require the measurement of long, intact DNA molecules for accurate sizing, as was observed in this study.
Bionano Genomics highlighted that the study noted the successful use of OGM to replace the labor intensive and time-consuming Southern blot, which has been the "gold" standard for sizing repeat expansions up to now.
What Else?
"We believe this study helps demonstrate the important role OGM can play in understanding the most complex regions of the genome and that OGM is well-suited for the analysis of repeat expansion disorders that require the measurement of long, intact DNA molecules for accurate sizing," commented Erik Holmlin, PhD, president and chief executive officer of Bionano Genomics.
"We plan to continue developing better tools for the detection of a range of repeat expansion disorders, including those causing adult-onset ataxia and CANVAS. We are optimistic that adding OGM to repeat expansion disorder research can potentially lead to better diagnosis for patients and more accurate data for neuroscience researchers," Homlin stated.
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