Largest Study of Mendelian Disease Highlights how OGM, alongside other Techniques, May Enhance Success Rates in Identifying Molecular Causes of Genetic Disease
14 Setembro 2023 - 9:00AM
Bionano Genomics, Inc. (Nasdaq: BNGO), today announced the
publication of a study detailing the challenges associated with the
detection and interpretation of causal variants in Mendelian
disease, using a cohort of 4,577 families. The study authors
conducted a comprehensive analysis of samples from the cohort in
which non-sequencing-based challenges were encountered, and then
reanalyzed samples using exome sequencing (ES), whole-genome
sequencing (WGS), chromosomal microarray (CMA) and optical genome
mapping (OGM), finding that addressing these challenges alone could
boost diagnostic yield of causal variants by approximately 71% and
underscoring the need for a thorough approach to undiagnosed
diseases.
The study authors reanalyzed and reinterpreted 314 samples with
negative clinical exome or genome sequencing using a combination of
traditional and novel techniques and were able to identify the
likely causal variant in 54.5% of samples. OGM was used to analyze
samples that remained negative after ES and was particularly
relevant in the detection of large variants that were below the
limit of detection of CMA.
OGM’s utility was illustrated in a pedigree structure case where
researchers reviewed challenges associated with imprinting
disorders appearing to be autosomal recessive phenotypes. OGM was
used to analyze three pediatric cases of split hand/foot
malformation syndrome after karyotyping, ES and RNA sequencing all
failed to identify a causal variant. OGM revealed a tandem
duplication impacting multiple genes in all three cases, indicating
paternal gonadal mosaicism. In addition to this finding, the
authors reported additional instances where OGM was used to resolve
cases involving structural variants coming from multiple classes
that were highly complex.
“This case study, published in Nature, is the largest study of
its kind on Mendelian disorders and it highlights the fact that
definitive molecular diagnosis of disease is heavily encumbered by
a number of complexities related to the actual data generation
itself. The authors demonstrate that the combination of multiple
techniques may reveal additional information that can help improve
the success rate of molecular diagnosis in Mendelian disease. We
believe they also underscore OGM’s ability to resolve highly
complex cases involving structural variations and show that OGM may
play a significant role in covering the gap in variant detection
left by other methods. The findings of this combined approach
involving multiple orthogonal methods give researchers a rich data
set that may result in increased number of diagnoses, which can
inform treatment decisions and reproductive choices,” commented
Erik Holmlin, president and chief executive officer of Bionano.
The publication can be viewed here:
https://www.nature.com/articles/s41467-023-40909-3#Sec1.
About Bionano
Bionano 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, Inc. d/b/a Bionano
Laboratories business, the Company also provides diagnostic
testing for patients with clinical presentations consistent with
autism spectrum disorder and other neurodevelopmental disabilities.
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. The Company additionally offers
nucleic acid extraction and purification solutions using
proprietary isotachophoresis technology. For more information,
visit www.bionano.com, www.bionanolaboratories.com or www.purigenbio.com.
Unless specifically noted otherwise, Bionano’s OGM products
are for research use only and not for use in diagnostic
procedures.
Forward-Looking Statements of
Bionano
This press release contains forward-looking statements within
the meaning of the Private Securities Litigation Reform Act of
1995. Words such as “believe,” “can,” “could,” “may” and similar
expressions (as well as other words or expressions referencing
future events, conditions or circumstances and the negatives
thereof) 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 potential of OGM,
alongside other techniques, to reveal additional information and
enhance success rates in identifying molecular causes of genetic
disease, boost diagnostic yield of causal variants in Mendelian
disease and play a significant role in covering the gap in variant
detection left by other methods; the possibility that involving
multiple orthogonal methods may result in increased number of
diagnoses, which can inform treatment decisions and reproductive
choices; and other statements that are not historical facts.
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 geopolitical
and macroeconomic developments, such as recent and future bank
failures, the ongoing Ukraine-Russia conflict, related sanctions,
and any global pandemics, on our business and the global economy;
challenges inherent in developing, manufacturing and
commercializing products; our ability to further deploy new
products and applications and expand the markets for our technology
platforms; failure of our OGM solutions to be adopted for the
detection and interpretation of causal variants in Mendelian
disease; the failure of OGM in combination with other techniques to
enhance success rates in identifying molecular causes of Mendelian
disease in a manner consistent with the study results described in
this press release; future study results that contradict or do not
support the study results described in this press release; our
expectations and beliefs regarding future growth of the business
and the markets in which we operate; changes in our strategic and
commercial plans; our ability to obtain sufficient financing to
fund our strategic plans and commercialization efforts; and
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, 2022 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 are under no duty to
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rely on these forward-looking statements as representing our views
as of any date subsequent to the date the statements are made.
Moreover, except as required by law, neither we nor any other
person assumes responsibility for the accuracy and completeness of
the forward-looking statements contained in this press release.
CONTACTS
Company Contact:Erik Holmlin, CEOBionano
Genomics, Inc.+1 (858) 888-7610eholmlin@bionano.com
Investor Relations:David HolmesGilmartin
Group+1 (858) 888-7625IR@bionano.com
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