Bionano Genomics Announces First Publication Using OGM for Detection of Repeat Expansions in CANVAS and Adult-Onset Ataxia
August 11 2022 - 8:00AM
Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the
publication of the first study to evaluate the utility of optical
genome mapping (OGM) in the analysis of repeat expansion disorders.
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.
Researchers in this study describe how OGM can be adopted as an
alternative to Southern blot analysis for the identification of
repeat expansions in the RFC1 gene that lead to
cerebellar ataxia with neuropathy and bilateral vestibular
areflexia syndrome (CANVAS) and adult-onset ataxia in multiple
populations. Individuals with RFC1 (AAGGG)n repeat expansion
disorder may present with a spectrum of features including
cerebellar ataxia, neuropathy, and vestibular areflexia.
Specifically, ataxias are a group of neurodegenerative repeat
expansion disorders, characterized by atrophy of the cerebellum
that leads to the inability to control balance and coordination.
Even though there are many known cerebellar ataxia–causing genes
and variations, some adult patients with adult-onset ataxia remain
genetically undiagnosed, and studies to identify genetic causes are
ongoing.
In the study, 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. 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. 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.
“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. 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,” commented Erik
Holmlin, PhD, president and chief executive officer of Bionano
Genomics.
This publication is available at:
https://link.springer.com/article/10.1007/s00415-022-11275-9
About Bionano Genomics
Bionano Genomics is a provider of genome analysis solutions that
can enable researchers and clinicians to reveal answers to
challenging questions in biology and medicine. The Company’s
mission is to transform the way the world sees the genome through
OGM solutions, diagnostic services and software. The Company offers
OGM solutions for applications across basic, translational and
clinical research. Through its Lineagen business, the Company also
provides diagnostic testing for patients with clinical
presentations consistent with autism spectrum disorder and other
neurodevelopmental disabilities. Through its BioDiscovery business,
the Company also offers an industry-leading, platform-agnostic
software solution, which integrates next-generation sequencing and
microarray data designed to provide analysis, visualization,
interpretation and reporting of copy number variants,
single-nucleotide variants and absence of heterozygosity across the
genome in one consolidated view. For more information, visit
www.bionanogenomics.com, www.lineagen.com or
www.biodiscovery.com
Forward-Looking Statements of Bionano
Genomics
This press release contains forward-looking statements within
the meaning of the Private Securities Litigation Reform Act of
1995. Words such as “believe,” “can,” “optimistic,” “plan,”
“potential,” and similar expressions (as well as other words or
expressions referencing future events, conditions or circumstances)
convey uncertainty of future events or outcomes and are intended to
identify these forward-looking statements. Forward-looking
statements include statements regarding our intentions, beliefs,
projections, outlook, analyses or current expectations concerning,
among other things, the ability and utility of OGM to complement
whole genome analysis in the detection of repeat expansions
associated with CANVAS and adult-onset ataxia. Each of these
forward-looking statements involves risks and uncertainties. Actual
results or developments may differ materially from those projected
or implied in these forward-looking statements. Factors that may
cause such a difference include the risks and uncertainties
associated with: the impact of the COVID-19 pandemic on our
business and the global economy; general market conditions; changes
in the competitive landscape and the introduction of competitive
technologies or improvements to existing technologies; failure OGM
to detect repeat expansions associated with CANVAS and adult-onset
ataxia; changes in our strategic and commercial plans; our ability
to obtain sufficient financing to fund our strategic plans and
commercialization efforts; the ability of medical and research
institutions to obtain funding to support adoption or continued use
of our technologies; failure of future study results to support
those demonstrated during the study referenced in this press
release; and the risks and uncertainties associated with our
business and financial condition in general, including the risks
and uncertainties described in our filings with the Securities and
Exchange Commission, including, without limitation, our Annual
Report on Form 10-K for the year ended December 31, 2021 and in
other filings subsequently made by us with the Securities and
Exchange Commission. All forward-looking statements contained in
this press release speak only as of the date on which they were
made and are based on management’s assumptions and estimates as of
such date. We do not undertake any obligation to publicly update
any forward-looking statements, whether as a result of the receipt
of new information, the occurrence of future events or
otherwise.
CONTACTSCompany Contact:Erik
Holmlin, CEOBionano Genomics, Inc.+1 (858)
888-7610eholmlin@bionanogenomics.com
Investor Relations:Amy ConradJuniper Point+1
(858) 366-3243amy@juniper-point.com
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