Aniridia

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

Findings demonstrate structure-activity relationship of RNAa therapeutics, supporting use in genetic medicine, as well as therapeutic potential of MiNA’s MTL-CEBPA in acute myeloid leukemia LONDON--(BUSINESS WIRE)-- MiNA Therapeutics Limited, the pioneer in small activating RNA (RNAa) therapeutics, highlights preclinical research presented by academic partners at the annual meeting of the Oligonucleotide Therapeutics Society (OTS) in Barcelona, Spain. RNAa therapeutics are a revolutionary new class of medicines that can restore or boost normal function of genes and thereby protein-modulated pathways in cells. Key Data Highlights from OTS In a presentation titled, “Investigating Chemically-Modified Short Activating RNAs to Increase Nuclease Stability and Gene Activation,” findings demonstrated improvement in the medicinal properties of RNAa therapeutics using well established chemical modifications. Another study titled, “Small-Activating RNA Therapy Development for the Inherited genetic Disorder Aniridia,” revealed the potential of RNAa therapeutics to treat a rare and severe genetic eye disease. Finally, the presentation titled, “RNA Activation of a Transcription Factor Induces Terminal Differentiation of Blood Cancer in Preclinical Studies,” detailed findings that identified the potential of MTL-CEBPA to treat acute myeloid leukemia (AML), an aggressive blood cancer with low survival rates and high burden of chemotherapeutic treatment side effects. MiNA is exploring out-licensing opportunities for MTL-CEBPA and its immuno-oncology portfolio which uniquely combines the capability to specifically restore or boost any dysregulated gene target with clinically validated in vivo delivery to myeloid immune cells. “The findings from these three preclinical studies demonstrate continued advances in the development of our novel RNAa therapeutics across a range of therapeutic areas,” said Robert Habib, CEO of MiNA Therapeutics. “We are particularly encouraged by the data that reveals the structure-activity relationship of RNAa medicines which supports our development strategy in genetic medicine.” Following the meeting, the posters for the three studies will be available on the MiNA website: . About MiNA Therapeutics MiNA Therapeutics is the global leader in small activating RNA therapeutics or RNAa. Harnessing innate mechanisms of gene activation, RNAa therapeutics are a revolutionary new class of medicines that can restore or boost normal function of genes and thereby protein-modulated pathways in cells. We are advancing a proprietary pipeline of new medicines with an initial focus on genetic medicine, while collaborating with leading pharmaceutical companies to apply our technology platform across a broad range of other therapeutic areas. Based on our unique know-how in RNA activation, we are expanding the possibilities of RNA-based medicine.

When an immunocompromised person's system begins to recover and produce more white blood cells, it's usually a good thing -- unless they develop C-IRIS, a potentially deadly inflammatory condition. New research has found that the pulmonary distress often associated with C-IRIS is caused not by damage to the lungs, but by newly populated T-cells infiltrating the brain. Knowing this mechanism of action can help researchers and physicians better understand the illness and provide new treatment targets. When an immunocompromised person's system begins to recover and produce more white blood cells, it's usually a good thing -- unless they develop a potentially deadly inflammatory condition. New research from the University of Illinois Urbana-Champaign has found that the pulmonary distress often associated with the condition is caused not by damage to the lungs, but by newly populated T-cells infiltrating the brain. Knowing this mechanism of action can help researchers and physicians better understand the illness and provide new treatment targets, said study leader Makoto Inoue, a professor of comparative biosciences at Illinois. The study was published in the journal Nature Communications. Cryptococcus-associated immune reconstitution inflammatory syndrome, known as C-IRIS, happens when an immunocompromised patient is unknowingly infected with the fungus Cryptococcus. Once the patient's immune system begins to rebuild, creating more T-cells, the infection sparks systemic inflammation. C-IRIS frequently affects patients receiving antiretroviral therapy, recovering from chemotherapy, or recovering from a transplant, and also has been known to affect postpartum women or patients with multiple sclerosis -- yet it remains difficult to diagnose, requiring ruling out other causes first, said study co-author Jinyan Zhou, a graduate student researcher at Illinois. Wanting to understand more about the condition and its progression, the researchers developed a mouse model of the disease. To achieve this, they give injections of T-cells to immune-deficient mice preinfected with Cryptococcus, simulating what happens when the immune system starts producing higher levels of T-cells after being suppressed. The symptoms the mice developed -- such as inflammation, fluid in the brain and pulmonary dysfunction -- were in line with those of human patients. "We saw a high number of T-cells infiltrating the brains in conjunction with the presence of pulmonary dysfunctions, so that told us they could be connected," Zhou said. "In healthy conditions, there shouldn't be that many T-cells in the brain, because those cells should primarily exist in the periphery with a small number of T-cells doing patrol and surveillance within the brain." When the researchers investigated further, they uncovered a chain of events leading the T-cells to invade the brain and affect breathing. The receptor CCR5 is implicated in HIV and cancer, and also found on the surface of T-cells. When the T-cell populations started to rise in the mice, the receptor promoted the white blood cells' infiltration into the brain. In addition, the T-cells that had infiltrated the brain produced high amounts of two molecules known to cause damage to neurons in the regions of the brain that control respiratory function. "Finding that the pulmonary dysfunction is due to neuron damage in the brain was a new way of seeing this condition," Inoue said. "We know the brain controls may peripheral organs, but this is a notable idea for clinicians treating this syndrome. Normally, drugs are given to try to improve lung function, but they don't work. Now we know it's due to changes in the brain, so that gives us new treatment pathways to target." To verify this chain of events and identify potential treatment pathways, the researchers treated a set of mice with a drug that suppresses the CCR5 receptor. Both pulmonary function and neuronal development improved. "We think this could have potential to be beneficial for C-IRIS patients as well, to prevent T-cell infiltration into the brain, and that in turn could prevent the symptoms from happening," Zhou said. "We also could target those molecules that damage the neurons. For example, when patients are prescribed immunotherapies we could maybe manipulate those T-cells to decrease their expression of those molecules." Next, the researchers plan to further study other functions of the immune system in C-IRIS and how more systems in the brain and body interact with T-cells. The National Institutes of Health supported this work via grant R01-AI136999.