WWOX

A record 31 scientific presentations and posters at the 2024 European Society for Human Genetics (ESHG) Annual Conference and 8 scientific presentations and posters at the 2024 American Cytogenomics Conference (ACC) will highlight the application of optical genome mapping (OGM) in genetic disorder, rare disease, and cancer research applicationsBionano will host a sponsored session at ESHG featuring an overview of the Company’s OGM workflow delivered by Bionano’s chief medical officer, Dr. Alka Chaubey, a presentation from Dr. Laura Batlle Masó at Vall d’Hebron Institute of Research (Spain) on OGM’s potential utility in resolving hereditary angioedema (HAE) cases, a presentation from Dr. Bart van der Sanden at Radboud UMC (Netherlands) on how OGM may be useful for the detection of structural variants (SVs) relevant to rare disease, and a presentation from Marlene Ek at Karolinska Institute (Sweden) highlighting OGM’s ability to unveil more cytogenomic insights into multiple myeloma samples than traditional cytogenetic methods At ACC, a sponsored session will feature Dr. Mike Gallagher, market development manager at Bionano, highlighting OGM’s ability to enhance detection of pathogenic variants and to advance genetic disease research. Dr. Gallagher will also introduce the latest innovations in the OGM workflow, including the Stratys™ system and VIA™ software SAN DIEGO, May 30, 2024 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the Company’s robust participation at two upcoming cytogenetics conferences, the 2024 European Society for Human Genetics (ESHG) Annual Conference and the 2024 American Cytogenomics Conference (ACC), with a record 39 scientific presentations and posters across the two conferences that highlight the utility of the Company’s OGM workflow for applications in genetic disease, cancer, and rare disease research and discussing the latest advances to the Company’s suite of products, including the high throughput Stratys system and VIA software. ESHG brings together industry and academic professionals annually to discuss new technologies and advances in the field of human genetics. ESHG sessions will take place June 1-4, 2024 virtually and in Berlin, Germany. ACC is a biennial conference focused on new technologies and advances in the field of cytogenetics. ACC will be held June 2-5, 2024 in Norfolk, Virginia. Bionano will host a sponsored session at ESHG featuring an overview of the Company’s OGM workflow delivered by Bionano’s chief medical officer, Dr. Alka Chaubey, a presentation from Dr. Laura Batlle Masó at Vall d’Hebron Institute of Research (Spain) on OGM’s potential utility in resolving hereditary angioedema (HAE) cases, a presentation from Dr. Bart van der Sanden at Radboud UMC (Netherlands) covering how OGM may be useful for the detection of SVs relevant to rare disease, and a presentation from Marlene Ek at Karolinska Institute (Sweden) highlighting OGM’s ability to unveil more cytogenomic insights into multiple myeloma samples than traditional cytogenetic methods. At ACC, a sponsored session will feature Dr. Mike Gallagher, market development manager at Bionano, highlighting OGM’s ability to enhance detection of pathogenic variants and to advance genetic disease research. Dr. Gallagher will also introduce the latest innovations in the OGM workflow, including the Stratys system and VIA software. Erik Holmlin, PhD, president and chief executive officer of Bionano, stated, “We are excited to see the progress that the global OGM community is making, which is highlighted by the growth in the number of scientific posters and presentations on OGM from the last time the ESHG and ACC conferences were held. We believe this expansion demonstrates the increased customer adoption of OGM, with routine and repeated utilization for innovative research into genetic disorders, cancer and rare disease.” ESHG scientific presentations and poster sessions: Scientific presentations and poster sessions on OGM at ESHG take place in the exhibition halls unless otherwise noted. Abstract/ Poster NumberTitleAuthorsPresentedP14.015.ADeciphering a complex short size RERE rearrangement: importance of combined approaches for duplication interpretationFauqueux J.June 2, 202410:15-11:15 AM CESTP01.065.AA Canadian lab’s experience using optical genome mapping to clinically genotype hematological neoplasmsHamadeh Z.June 2, 202410:15-11:15 AM CESTP03.025.ACharacterization of a complex rearrangement between three chromosomes in a fetus with skeletal anomalies by optical genome mappingHeinrich U.June 2, 202410:15-11:15 AM CESTP16.077.AAccurate identification of pathogenic structural variants guided by multi-platform comparisonMoeinzadeh M.June 2, 202410:15-11:15 CESTP01.163.BDeciphering the molecular complexity of the IKZF1 plus profile using optical genome mappingLühmann J.June 2, 202416:45-17:45 PM CESTP12.023.BSORD and SORD2P inversion: long read sequencing identifies a novel genetic mechanism underlying inherited neuropathyManini A.June 2, 202416:45-17:45 PM CESTP04.029.BOptical genome mapping facilitates rapid characterization of structural variants in families with developmental eye anomaliesMerepa S.June 2, 202416:45-17:45 PM CESTP01.007.CLarge genomic rearrangement: tandem duplication and triplication in BRCA1 gene causative for hereditary breast and ovarian cancerAldrige Allister B.June 3, 202410:15-11:15 AM CESTP15.102.CEstablishing ultra-rapid genome sequencing in neonatal and pediatric intensive care units in Germany – project Baby LionAuber B.June 3, 202410:15-11:15 AM CESTP14.029.COptical genome mapping of a patient with ring chromosome 3 shows the importance of choosing the proper reference genome for the analysisBurssed B.June 3, 202410:15-11:15 AM CESTP14.025.CPositive predictive value of balanced structural variants reported through short-read genome sequencing: do we need orthogonal confirmation?Chatron N.June 3, 202410:15-11:15 AM CESTP14.013.COptical genome mapping identifies hidden structural variants in 58 undiagnosed rare disease patient-parent triosHoischen A.June 3, 202410:15-11:15 AM CESTP01.160.CDeciphering copy number variations within the complex genomic region of the PMS2 gene using optical genome mappingMaier J.June 3, 202410:15-11:15 AM CESTP12.032.CThe WWOX gene variants detection in patient with cerebellar ataxia using optical genome mappingRutkowska K.June 3, 202410:15-11:15 AM CESTP01.051.CEnhanced cytogenomic analysis of complex karyotype in myelodysplastic syndrome using optical genome mappingValkama A.June 3, 202410:15-11:15 AM CESTP21.065.DAdvancing genetic diagnostics: optical genome mapping’s efficacy in identifying structural variants for autosomal recessive diseasesBeyza Ogutlu O.June 3, 202416:45-17:45 PM CESTP15.079.DBenefits of the analysis of a complex chromosomal rearrangement in the implementation of long read approachesChambon P.June 3, 202416:45-17:45 PM CESTP04.011.DA combined approach of innovative DNA- and RNA-technologies reveals hidden LINE-1/ERV insertion in IQCB1 as causative variant for Senior Løken syndromede Bruijn S.June 3, 202416:45-17:45 PM CESTP01.056.DExome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibilityMantere T.June 3, 202416:45-17:45 PM CESTP15.091.DA multimodal approach to molecular diagnosis in NF1 highlights the need for bespoke analysis in undiagnosed patientsMcAleese-Park E.June 3, 202416:45-17:45 PM CESTP10.021.DOptical genome mapping finally unveils the genetic cause of aniridia and intellectual disability in a 17-year-old after seven years of diagnostic odysseyTelman W.June 3, 202416:45-17:45 PM CESTE-posterOptical genome mapping for comprehensive genomic rearrangement analysisFlunkert J.OnlineE-posterOptical genome mapping: lighting the way in complex clinical casesMonge Lobo I.OnlineE-posterRefining genotype-phenotype correlation in complex chromosomal rearrangements using optical genome mapping – case reportVallova V.OnlineE-posterUnraveling the mysteries of balanced rearrangements: optical genome mapping spotlights BCL11B misregulation in a familial translocationAlcalá San Martín A.OnlineE-posterOptical genome mapping (OGM) allows the characterization of a complex chromosome rearrangement associated with recurrent pregnancy lossTrost D.OnlineE-posterFocus on deletions and duplications identified by optical genome mapping technique in a cohort of 100 patients: comparison with MCADoco-Fenzy M.OnlineRoomTitlePresenterPresentedPoster presentationOptical genome mapping identifies hidden structural variants in previously undiagnosed rare disease cases in Solve-RDvan der Sanden B.June 1, 202419:00-19:15 PM CEST, Room A8Poster presentationMultiomics and deep phenotyping in MECP2 Duplication syndrome: insight into disease severity, expression variability, and nucleic acid therapeuticsPehlivan D.June 1, 202419:45-20:00 PM CEST, Room A8Poster presentationNext generation cytogenetics by optical genome mappingKanagal-Shamanna R.June 3, 202408:30-10:00 AM CEST, Room A2Sponsored sessionInsights into constitutional disorders and beyond: scaling to new heights with optical genome mappingChaubey A., Batlle Masó L., van der Sanden B., Ek M.June 3, 202414:00-15:30 PM CESTRoom New York 3 (Level 1) ACC scientific presentations and poster sessions: Scientific presentations and poster sessions on OGM at ACC take place in the exhibition hall. Poster/PresentationTitlePresenterPresentedExhibitor theater sessionRevolutionizing cytogenomics with optical genome mapping: high-resolution structural variant detection with an elevated sample-to-answer workflowGallagher M.June 3, 202412:15-12:35 PM ESTPoster presentationEnhanced detection of primary oncogenic drivers in pediatric T-lymphoblastic leukemia (T-ALL) by optical genome mapping (OGM)Raca G.June 3, 20242:00-2:15 PM ESTPoster presentationUtility of optical genome mapping as an additional tool to standard cytogenetic workup in hematological malignanciesToruner G.June 3, 20242:15-2:30 PM ESTPoster presentationA curated research catalogue of structural variation from 809 postnatal cases detected by optical genome mappingPang A.June 3, 20244:00-4:15 PM ESTPoster presentationA search for genetic determinants in neural tube defects using optical genome mappingSahajpal N.June 3, 20244:15-4:30 PM ESTPoster presentationCross-comparison of optical genome mapping and chromosomal microarray data using VIA softwareYu J.June 3, 20244:30-4:45 PM ESTPoster hallEfficient hematological malignancy analysis and reporting workflow using optical genome mappingClifford B. Poster hallIsotachophoresis (ITP) for high-throughput isolation of UHMW gDNA suitable for optical genome mapping (OGM)Yadav M. More details on Bionano’s presence at the ESHG conference can be found here, and virtual posters will be shown here; more details on Bionano’s presence at the ACC conference can be found here. 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. The Company also offers an industry-leading, platform-agnostic genome analysis software solution and nucleic acid extraction and purification solutions using proprietary isotachophoresis (ITP) technology. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also offers OGM-based diagnostic testing services. 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 “ability,” “believe,” “may,” “potential,” “will,” 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, OGM’s utility for genetic disorder, rare disease, and cancer research applications; OGM’s ability and utility for resolving HAE cases; the ability and utility of OGM to detect SVs relevant to rare disease; the ability of OGM to unveil more cytogenomic insights into multiple myeloma samples than traditional cytogenetic methods; OGM’s ability to enhance detection of pathogenic variants and to advance genetic disease research; the utility of the latest innovations in OGM workflows, including the Stratys system and VIA software; the utility of OGM for research in the areas reported in the presentations given and the posters made available at the ESHG Annual Conference 2024 and AAC 2024; the growth and adoption of OGM for use in genetic disorder, rare disease, and cancer research applications; the ability and utility of our OGM solutions to drive market adoption of OGM; and any other statements not of historical fact. 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: global and macroeconomic events, such as the impact of the global pandemics, bank failures, interest rate changes, supply disruptions, and the ongoing conflicts in the Ukraine and Russia and between Israel and Hamas, and related sanctions, 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; the failure of OGM’s utility for genetic disorder, rare disease, and cancer research applications; the failure of OGM to resolve HAE cases; the failure of OGM to detect SVs relevant to rare disease; the failure of OGM to unveil more cytogenomic insights into multiple myeloma samples than traditional cytogenetic methods; the failure of OGM to enhance detection of pathogenic variants and to advance genetic disease research; the failure of our latest innovations in OGM workflows, including the Stratys system and VIA software; the failure of OGM for research in the areas reported in the presentations given and the posters made available at the ESHG Annual Conference 2024 and AAC 2024; the growth and adoption of OGM for use in genetic disorder, rare disease, and cancer research applications; the ability and utility of our OGM solutions to drive market adoption of OGM; the ability of our OGM solutions to offer the anticipated benefits for and contributions to the areas reported in the presentations given and posters made available at the ESHG Annual Conference 2024 and AAC 2024; future study results contradicting the results reported in the presentations given and posters made available at the ESHG Annual Conference 2024 and AAC 2024; 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; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts and to continue as a "going concern”; 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, 2023 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. 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

STAMFORD, Conn., May 23, 2023 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced that it will participate in multiple presentations at the World Orphan Drug Congress in Washington, D.C., May 23-25, 2023. The keynote session will highlight how GeneDx’s deeply curated, 20 plus year genomic dataset combined with strong research and development experience of a biopharma partner accelerates drug development programs. Amanda Singleton, Head of Biopharma and Strategic Partnerships and Vinnie Ustach, Applied Computational Biology Lead, both from GeneDx, will be joined by Jennifer Panagoulias, Chief Regulatory and Compliance Officer of Mahzi Therapeutics for the keynote lunch, “Leveraging Clinical and Genomic Data to Advance Drug Development Programs,” on Thursday, May 25, 1:30-1:50 p.m. ET. The panel will discuss how the company’s partnership with Mahzi Therapeutics has helped advance IND-enabling activities and clinical development for the company’s WWOX and CHD2-related drug candidates. “We are continuing to accelerate broad adoption of exome and genome sequencing to shorten the diagnostic odyssey for patients and empower them with a genomic-based diagnosis so they can spend less time searching for answers and more time focused on a potential treatment plan,” said Katherine Stueland, President, and Chief Executive Officer at GeneDx. “Our work with Mahzi Therapeutics is a prime example of how we are going a step further with the broader ecosystem of biopharma, using our rich genomic dataset to uncover new patient insights that are helping to advance development pipelines and bring new therapies to market for rare genetic neurodevelopmental disease candidates with no approved treatments.” “Using the GeneDx dataset, we have been able to access genomic and phenotypic data of patients otherwise not available, which has accelerated our drug development work and supported regulatory submissions and clinical program development for our WWOX and CHD2 drug candidates,” said Yael Weiss, M.D., Ph.D., Chief Executive Officer, and Founder of Mahzi Therapeutics. “We look forward to our continued partnership with GeneDx to help us deliver on our mission and bring new therapies to market for patients with rare genetic neurodevelopmental disorders.” Kareem Saad, Chief Transformation Officer at GeneDx will also participate in a panel discussion at the World Orphan Drug Congress, “Current Best Practices for Diversity in Clinical Trials: Taking a Holistic Look at Inclusivity, Outreach and Engagement” on Thursday, May 25, 12:10 p.m. - 12:50 p.m. ET. To learn more about partnering with GeneDx for biopharmaceutical, academic research, and patient advocacy collaborations, please visit . About GeneDx GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation, fueled by one of the world’s largest, rare disease data sets. For more information, please visit genedx.com and connect with us on LinkedIn, Facebook, Twitter, and Instagram. About Mahzi Therapeutics Mahzi is a private, venture-backed biotechnology company that focuses on genetic therapies for rare genetic neurodevelopmental disorders. Based on the Greek word for ‘Together’, Mahzi unites patient and family groups, academic researchers, diagnostic companies, other industry members, and its internal team of experts to develop therapies for patients with these serious diseases. Investor Relations Contact: Tricia Truehart Investors@GeneDx.com Media Contact: Maurissa Messier Press@GeneDx.com

An analysis of the genetics of nearly 95,000 people across the United States and Europe who have been diagnosed with Alzheimer’s disease has led to the discovery of four new genetic variants in the body that can increase the risk of developing the form of dementia. Research into developing a treatment for Alzheimer’s disease has proven to be incredibly difficult, with multiple companies reporting failure after failure of therapies in the clinic, particularly those focused on amyloid plaques. A new study, though, could help lead to the potential development of a treatment for the dreaded neurological disease. An analysis of the genetics of nearly 95,000 people across the United States and Europe who have been diagnosed with Alzheimer’s disease has led to the discovery of four new genetic variants in the body that can increase the risk of developing the form of dementia. According to the study, which was published in Nature Genetics , the risk for late-onset Alzheimer’s disease (LOAD) is partially driven by genetics. Researchers said these four new genes work in tandem with 20 previously-known genome-wide significant common variant signals. That is in addition to signals from the ApoE4 gene, which is involved with the transportation of cholesterol and is considered one of the most significant risk factors for Alzheimer’s. “We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer’s,” the researchers said in Nature Genetics . With these new genome-wide loci having been identified, the work now begins to understand how those function and related to the development of Alzheimer’s disease. “The enrichment of rare variants in pathways associated with Alzheimer’s disease indicates that additional rare variants remain to be identified, and larger samples and better imputation panels will facilitate identifying them. While these rare variants may not contribute substantially to the predictive value of genetic findings, they will enhance the understanding of disease mechanisms and potential drug targets. Discovery of the risk genes at genome-wide loci remains challenging, but we demonstrate that converging evidence from existing and new analyses can prioritize risk genes,” the researchers wrote in the conclusion of the article. Richard Isaacson , who directs the Alzheimer’s Prevention Clinic at Weill Cornell Medicine, told CNN that the data presented in the study is another step forward in the understanding of Alzheimer’s disease. He told CNN that the discovery of these four new genes will allow clinicians to target those genes as they continue to attempt treatment options. Also, Isaacson said the new genetic discoveries provide researchers “a greater insight to potential causes of Alzheimer’s.” The study, which was led by researchers from the University of Miami’s Hussman Institute for Human Genomics, is a follow up to a 2013 genome-wide association study that identified 11 gene locations that had not previously been known to be associated with the development of Alzheimer’s, CNN said. Margaret Pericak-Vance, director of the Hussman Institute, noted the complexity of Alzheimer’s. In an interview with CNN , she noted that it’s not like some other genetic-associated diseases like Huntington’s or Parkinson’s, “where one gene is altered and you get the disease.” “With Alzheimer’s, it’s multiple genes acting together. We were trying to get at the very rare gene variants that could contribute to Alzheimer’s. And we couldn’t do that before. We just didn’t have the sample size to do it,” she noted. Harvard professor of neurology Rudy Tanzi, director of the Alzheimer’s Genome Project and a member of the research team also told CNN that this study validated the role of amyloid and immune system genes in the development of Alzheimer’s. The study could renew interest in that area, despite some of the failures to target it. In January, Tanzi told BioSpace that he did not believe the amyloid theory had been invalidated. “I think amyloid and tangles trigger the disease, but they’re not sufficient to cause dementia. In a nutshell, what we’ve learned is that amyloid comes very early, 15 years before symptoms. And all the genetics tells us this disease begins with amyloid,” Tanzi said. He added that the tangles and amyloid plaque are the precursors, which lead to neuroinflammation, which he said is what kills the neurons and leads to dementia.