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Bionano Genome Imaging Identifies the Most Common Structural Variations Between Individuals with DiGeorge Syndrome

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Bionano Genomics
·6 min read
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Nature paper documents largest study of a single genetic disorder using Bionano genome imaging technology to date. Only Bionano’s Saphyr system was capable of resolving this extremely complex genome structure.

SAN DIEGO, July 23, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that a study published in the journal Nature used Bionano’s genome imaging technology to establish one of the largest and most structurally accurate sets of genome data for a cohort of affected children and their parents in a study of the most common genomic deletion syndrome, called 22q11.2 Deletion Syndrome (22q11.2DS) or DiGeorge Syndrome.

The 22q11.2 Deletion Syndrome (22q11.2DS) is a congenital malformation disorder and the most frequent microdeletion syndrome in humans, with a prevalence of about one in every 3,000 live births and one in every 1,000 pregnancies. Affected patients suffer from such medical issues as congenital cardiac defects, immune deficiencies, speech/language defects, intellectual disabilities, and an increased risk for developing schizophrenia in adolescence or adulthood. The disorder is caused by a de novo deletion of about 3 million base pairs in chromosome 22q11.2, which means that it is not inherited from the parents, but instead occurs uniquely in each individual patient when the large repeats rearrange during cell division. The region of the chromosome where the deletion occurs is highly complex and is known to have many very large duplications.

Obtaining structurally accurate pictures of the genomes of patients with DiGeorge Syndrome and their parents is critical to developing a detailed understanding how these mutations form and whether the genomes of the parents harbor any characteristics that would predispose the affected embryo to manifesting the disease causing variant. Despite considerable efforts to date, sequencing technologies have been unable to correctly assemble the 22q11.2 region due to its size, regional complexity, and diversity. In contrast, this paper illustrates that Bionano genome imaging technology allows the characterization of the complex repetitive areas with its unique ability to image extremely long, single DNA molecules.

The team, led by scientists from the Children’s Hospital of Philadelphia with contributions from Drexel University and Albert Einstein College of Medicine, analyzed genome structure and variation in 88 individuals from 30 patient families and identified specific genomic arrangements that are the most common in patients and their parents. While no specific patterns could be traced to the parents of affected children, a specific orientation of a ~160,000 base pair sequence module that combined with a ~64,000 inversion was the most frequent disease-causing locus observed in patients. This degree of certainty regarding the presence or absence of any specific patterns in parents, coupled with the findings of common structural variations among affected children is an example of the kind of novel information that only Bionano’s Saphyr system provides.

Erik Holmlin, PhD, CEO of Bionano Genomics commented: “The 22q11.2DS study published in Nature demonstrates once again that Bionano’s genome imaging technology is capable of resolving the structure and orientation of the most complex regions of the genome. The single DNA molecules imaged by Saphyr are up to millions of base pairs in length, providing an unambiguous view of the genome that we believe cannot be obtained with short-read or long-read sequencing technologies. We believe Saphyr’s genome imaging technology can facilitate accurate structural analysis at a cost and throughput that enables large studies such as the one published here today. The findings of this study help increase understanding of not just this devastating disease, but several other severe genetic disorders caused by the rearrangement of these extremely large genomic elements. We are proud of the use of Bionano’s technology in this study and the increased understanding which we anticipate will help researchers, clinicians, but also patients and their families.”

About Bionano Genomics
Bionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing. Bionano’s Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. For more information, visit www.bionanogenomics.com.

Forward-Looking Statements
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “may,” “will,” “expect,” “plan,” “anticipate,” “estimate,” “intend” 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: Saphyr’s capabilities, including its ability to resolve the most complex regions of the genome; the limitations of sequencing technologies; and the benefits of Saphyr’s genome imaging technology and its ability to facilitate large studies. 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 products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the loss of key members of management and our commercial team; 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, 2019 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.


Company Contact:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610

Investor Relations Contact:
Ashley R. Robinson
LifeSci Advisors, LLC
+1 (617) 430-7577

Media Contact:
Kirsten Thomas
The Ruth Group
+1 (508) 280-6592