Bionano Data Provides Understanding of Repeat Expansion Disorders Causing Muscular Dystrophy and ALS

SAN DIEGO, Sept. 17, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that teams from the Mayo Clinic and from the University of Florida have separately released results generated with Saphyr relating to Amyotrophic Lateral Sclerosis (ALS) and Myotonic Dystrophy (DM), respectively, two severe genetic disorders caused by the expansion of repetitive sequences in the genome. Saphyr identified repeat expansions in patients with ALS and DM that were so large that only Saphyr is capable of sizing them correctly. These findings help increase understanding of the disease-causing mechanisms and may lead to better diagnostic tests, support direct drug development and facilitate better identification of patients who are likely to respond to treatment.

In a study published in bioRxiv, a team led by Dr. Eric Wang from the University of Florida used Saphyr to identify genomic variants that determine the severity of neurological symptoms caused by DM. These symptoms, caused by an abnormal processing of a number of brain-expressed genes, correlate with the length of a repeat expansion. The study helped demonstrate that ultra-long DNA analysis technology, such as Bionano’s Saphyr, is crucial to enabling the accurate measurement of these repeat expansions.

Separately, in an online presentation by Dr. Mark Ebbert from the Mayo Clinic, Saphyr data was used to measure the repeat expansion in the C9ORF72 gene that causes ALS. A large number of repeat sizes were detected in the brains of individual ALS patients, demonstrating how the expanded repeat is unstable and leads to increasingly large expansions. The amount of variation within individuals was previously underestimated due to the lack of accurate measurement techniques.

In both cases, the disease-causing repeats were found to be tens of thousands of basepairs in length, too long to be accurately measured by currently available short-read and even long-read sequencing technologies. Additionally, the amount of variation within individual brain samples requires a single-molecule analysis method, like Bionano’s genome imaging. The studies provide additional support for the utility of Bionano’s single molecule, ultra-long DNA analysis technology in advanced disease research. In contrast, current diagnostic tests for large repeat expansions like the ones typically involved in DM and ALS are imprecise, lack the resolution and sensitivity to determine the size of the expansion and typically require confirmation with outdated methods like Southern Blot.

Erik Holmlin, PhD, CEO of Bionano Genomics, commented, “The studies by Dr. Wang and Dr. Ebbert help demonstrate the unique capabilities of Saphyr and the increasingly important role our technology plays in understanding the most complex regions of the genome. We are focused on developing better tools for the detection and molecular diagnosis of a range of repeat expansion disorders, including those causing Myotonic Dystrophy and ALS, where current methods fail to accurately size the repeats. In 2019, we released the Bionano EnFocus FSHD analysis, targeting another genetic disease caused by a complex repeat in the genome. Our automated tool was shown in validation studies to outperform the traditional methods based on Southern Blot, which led to the rapid development of laboratory developed tests (LDTs) by PerkinElmer Genomics and by the University of Iowa, the largest FSHD testing site in North America. We are optimistic that similar development of LDTs utilizing Saphyr could occur for several repeat expansion disorders in the near future, potentially leading to better diagnosis for patients, more accurate data for neuroscience researchers, and better tools for the development of novel drugs.”

The publication by Dr. Wang is available at
The presentation by Dr. Ebbert can be viewed at:

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, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. 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. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visit or

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, the future development of LDTs utilizing our technology, Saphyr’s contribution to detection and molecular diagnosis of certain diseases and disorders, anticipated improvements in the understanding, diagnosis and treatment of disease attributable to our technology or the use of our technology, future plans involving our technology or data and Saphyr’s capabilities in comparison to other genome analysis technologies. 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; failure of our products to achieve the stated objectives or anticipated benefits; 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:
Darren Opland, PhD
+1 (617) 733-7668

Data & News supplied by
Stock quotes supplied by Barchart
Quotes delayed at least 20 minutes.
By accessing this page, you agree to the following
Privacy Policy and Terms and Conditions.