SMCHD1

SAN DIEGO, Nov. 30, 2023 (GLOBE NEWSWIRE) -- Bionano Laboratories today announced the publication by scientists at Revvity Omics (formerly Perkin Elmer Genomics), Leiden University Medical Centre, Bombay Hospital, and UT Dallas, of the largest peer-reviewed study to date on the use of optical genome mapping (OGM) to diagnose facioscapulohumeral muscular dystrophy (FSHD). The publication describes the evaluation of an OGM-based laboratory developed test (LDT) including the assessment of the accuracy and precision of the OGM test against the prior standard, Southern blot analysis by gel electrophoresis. The study authors assessed the yield of OGM for diagnosing FSHD1 and the ability of next generation sequencing (NGS) to be used as a reflex test to identify FSHD2. The study, which included 547 cases with a clinical suspicion of FSHD, used an algorithm that utilized OGM to identify the FSHD haplotype and quantitate the number of D4Z4 repeats found on chromosome 4. Researchers used the NGS LDT to identify sequence variants, using NxClinical software to detect copy number variants in the SMCHD1 gene to diagnose cases with FSHD2. The authors noted that, when compared to other methods, OGM has the advantage of being able to identify mosaicism and to detect repeat sizing on 4q and 10q together with haplotyping in a single run. Key findings: Compared to Southern blot, the OGM LDT was 100% accurate and preciseThe OGM LDT identified 56% of cases positive for FSHD1 (308 out of 547 samples)252/547 cases were referred for concurrent testing for FSHD1 and FSHD2Sequencing identified FSHD2 in 3.6% of cases (9 out of 252 samples)The OGM LDT detected mosaic alleles with at least one contracted 4qA allele in 3% of samples positive for FSHD1 (9 out of 308 samples)The overall diagnostic yield of OGM and NGS combined was 58% (317 out of 547 samples) “Bionano Laboratories has developed a powerful menu of OGM-based LDTs, including one LDT for FSHD1 diagnosis. We are pleased to see this prestigious group of researchers’ findings from the largest FSHD study to date utilizing OGM. Using the study’s algorithm, researchers may be able to diagnose most cases of FSHD, underscoring OGM’s potential to contribute to diagnosis of the disorder, which may lead to better disease management and outcomes,” commented Justin Leighton, vice president of laboratory business at Bionano Laboratories. The publication can be viewed here. About Bionano Laboratories: Bionano Laboratories provides access to genetic answers and support utilizing cutting-edge technologies to advance the way you see the genome. Our clinical services offer a genetic testing experience that combines a comprehensive testing portfolio with thoughtful and accessible support options for the diagnostic journey. Bionano Laboratories also offers direct access to optical genome mapping for applications across basic, translational and clinical research. For more information, visit www.bionanolaboratories.com Forward-Looking Statements of Bionano Genomics This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “may,” “potential,” “would” 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 ability and utility of the OGM for use in the detection or diagnosis of FSHD; and the ability of OGM-based LDTs to remove barriers for OGM adoption in clinical and research settings. 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 adverse geopolitical and macroeconomic events, such as recent and potential future bank failures, potential global pandemics and the ongoing conflicts between Ukraine and Russia and Israel and Hamas, on our business and the global economy; general market conditions; the failure of the OGM-LDTs to prove useful for the detection or diagnosis of FSHD; the failure of OGM-based LDTs to remove barriers for OGM adoption in clinical and research settings; the ability of our OGM solutions to offer the anticipated benefits for and contributions to the areas reported in the study results referenced in this press release; future study results contradicting the study results reported in the publication referenced in this press release; general market conditions; changes in the competitive landscape and the introduction of competitive technologies or improvements to existing technologies; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts and the ability of our parent corporation, Bionano Genomics, Inc., to continue as a “going concern”; the ability of medical and research institutions to obtain funding to support adoption or continued use of our services and technologies; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in the filings of our parent corporation, Bionano Genomics, Inc., with the Securities and Exchange Commission, including, without limitation, its Annual Report on Form 10-K for the year ended December 31, 2022 and in other filings subsequently made by them 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

SOLVE FSHD contributes more than $1 million to n-Lorem to support research efforts to inform a therapeutic strategy for FSHD2 nano-rare patients SAN DIEGO--(BUSINESS WIRE)-- n-Lorem, a nonprofit foundation, today announced that Solve FSHD has provided one million dollars in support of n-Lorem’s efforts to fully understand the complex molecular cause of facioscapulohumeral muscular dystrophy-2 (FSHD2). This research will be critical to identifying a strategy for treatment for FSHD2 patients. In addition, this funding supports the expansion of n-Lorem’s research and discovery efforts, significantly enhancing the capabilities of the foundation. “We are grateful to Solve FSHD for this generous support. Not only do we hope to better understand FSHD2, but we hope to identify a path forward for a therapeutic strategy for these patients,” said Stanley T. Crooke, M.D., Ph.D., Founder, CEO and Chairman of n-Lorem Foundation. “Additionally, as we invest in expanding our research capabilities, we enhance the efficiency and capacity of our drug discovery and development programs, which will benefit all of our patients today and in the future.” FSHD2 is a form of muscular dystrophy that affects approximately five percent of FSHD patients. FSHD2 has been linked to mutations on a gene called SMCHD1, but other FSHD2 genes have been identified and approximately two percent of FSHD cases have an unknown genetic cause. The molecular complexity of FSHD2 makes the development of an effective treatment extremely challenging. “We are pleased to be partnering with n-Lorem Foundation to gain further insight into the molecular mechanisms that lead to FSHD2. Until the molecular cause of FSHD2 is better understood, progress on a potential therapeutic is greatly disadvantaged. n-Lorem is the only non-profit with access to three decades of learning in the RNA-targeted therapeutic space and the scientific team to aggressively pursue this complex disease,” said Dr. Eva Chin, Executive Director of Solve FSHD. “Our hope is that this funding will further our understanding of FSHD2, but also other programs, patients and their families,” added Chip Wilson, Founder and Chairman of the Board for Solve FSHD. “We are extremely grateful for the pioneering work of Dr. Crooke and his talented team of scientists at the Foundation.” Learn more about n-Lorem’s mission at , and please consider giving to n-Lorem to bring hope, possibility and treatment options to these needy patients and families. Subscribe: n-Lorem Patient Empowerment Program Podcast Series Watch: n-Lorem Foundation Delivers Hope and Treatment for Patient with Nano-Rare Disease Watch: n-Lorem Foundation: Creating a Better Future for Nano-Rare, One Patient at a Time SOLVE FSHD Solve FSHD is a Vancouver-based venture philanthropic organization established to catalyze innovation and accelerate key research in finding a cure for facioscapulohumeral muscular dystrophy (FSHD). FSHD is one of the most prevalent forms of muscular dystrophy, and the organization will work as a catalyst to accelerate drug developments and treatments for FSHD2 while further benefiting FSHD1. Established by renowned Canadian entrepreneur and philanthropist Chip Wilson, the founder of technical apparel company lululemon athletica inc. Chip has committed $100 million to kick-start funding into projects that support the organization’s mission to find a cure for FSHD by 2027. The goal of Solve FSHD is to find a solution that can stop muscle degeneration, increase muscle regeneration and strength, and improve the quality of life for those living with FSHD. The organization will fund innovative biotech and biopharma research and development activities that accelerate novel treatments and therapies for FSHD. About n-Lorem n-Lorem Foundation is a non-profit organization established to apply the efficiency, versatility and specificity of antisense technology to charitably provide experimental antisense oligonucleotide (ASO) medicines to treat nano-rare patients diagnosed with diseases that are the result of a single genetic defect unique to only one or very few individuals. Nano-rare patients describe a very small group of patients (1-30 worldwide) who, because of their small numbers, have few if any treatment options. n-Lorem Foundation was created to provide hope to these nano-rare patients by developing individualized ASO medicines, which are short strands of modified DNA that can specifically target the transcripts of a defective gene to correct the abnormality. The advantage of experimental ASO medicines is that they can be developed rapidly, inexpensively and are highly specific. To date, n-Lorem has assisted in the development and treatment of 14 nano-rare patients and received over 150 applications for treatment with more than 70 nano-rare patients approved. n-Lorem was founded by Stanley T. Crooke, M.D., Ph.D., former chairman and CEO of Ionis Pharmaceuticals, who founded Ionis Pharmaceuticals in 1989 and, through his vision and leadership, established the company as the leader in RNA-targeted therapeutics. Follow us on Twitter, Facebook, LinkedIn, YouTube and Instagram.

In this week’s research news, a fat hormone that slows liver tumor growth, a genetic map to track tumorigenesis, study that shows we inherit more than expected epigenetic information from our mothers, Alzheimer linked APOE gene protects against glaucoma. Fat Hormone Slows Liver Tumor Growth Scientists at the University of Michigan Life Sciences Institute found that a hormone secreted by fat cells could slow the growth of liver tumors in mice. The research team previously used single-cell RNA sequencing to construct a liver cell atlas and map intercellular signaling in healthy and NASH mouse livers. NASH stands for nonalcoholic steatohepatitis, a type of fatty liver disease. Working to identify specific molecular changes in the NASH state of the liver cell types, they found changes in two types of immune cells that seemed to lead to the development of hepatocellular carcinoma (HCC), the most common type of liver cancer. This seemed to occur in T cells and macrophages, showing signs of acquired molecular features associated with cancer. They also identified a hormone, NRG4, secreted by fat cells that appears to protect mouse livers against NASH and HCC. By boosting NRG4 levels in the mice, they suppressed NASH liver cancer progression. Do We Inherit More Epigenetic Information than We Think? Researchers from the Walter and Eliza Hall Institute in Melbourne, Australia, found that more epigenetic information is carried from mother to offspring than was previously understood. They published their research in Nature Communications. Epigenetics is how expression of genes are switched on and off. One way this occurs, is through addition of methyl groups (a carbon atom with three hydrogen atoms attached) to the genes. Under certain situations and environments, these genes are switched on or off. These changes could be diet, trauma, whether the genes or gene alterations are inherited from the mother or the father, or other factors. But the genes were generally believed to be reset when they are passed on to offspring. Part of the team's research found that a specific protein in the mother's egg can affect the genes behind the skeletal patterning of offspring. SMCHD1 is an epigenetic regulator discovered in 2008. Hox genes, which are essential for normal skeletal development control the identity of each vertebra during embryonic development. SMCHD1 prevents the Hox genes from activating too soon. They found that the amount of SMCHD1 in the mother's egg affects Hox gene activity and influences the patterning of the embryos. Without maternal SMCHD1 in the egg, offspring were born with altered skeletons. "It took us a while to process because our discovery was unexpected," Marnie Blewitt, Ph.D., chief investigator and Joint Head of the Epigenetics and Development Division at WEHI, said. "Knowing that epigenetic information from the mother can have effects with life-long consequences for body patterning is exciting, as it suggests this is happening far more than we ever thought. It could open a Pandora's box as to what other epigenetic information is being inherited." A Genetic Map of Tumors Show How They Grow Researchers at the University of Oxford used a new technique called spatial transcriptomics to map out the genetic changes of a whole prostate, including both healthy and cancerous cells. The technique grouped cells according to similar genetic identities. Surprisingly, they found that areas of what were thought to be healthy tissue already had genetic characteristics of cancer. What was originally thought to be healthy tissue showed mutations specifically linked to cancer. Researchers also analyzed more than 150,000 regions including prostate, breast cancer, skin, lymph node and brain tissue. They then developed an algorithm to track groups of cells with similar genetic changes in their specific location. Alzheimer's Linked APOE Gene and Glaucoma Protection The most prominent gene associated with the risk of Alzheimer's disease is the APOE4 gene variant. However, this same gene variant decreases the risk of glaucoma, an eye disease. Researchers at Mass Eye and Ear and Brigham and Women's Hospital and Mass General Brigham also prevented the destruction of neurons in the eyes of mice with glaucoma by using a drug that targeted the APOE signaling pathway. Specifically, APOE4 blocks a disease cascade that causes the destruction of retinal ganglion cells in glaucoma. Separately, in a mouse model, they used a drug called Galectin-3, which is regulated by the APOE gene, to prevent the death of retinal ganglion cells, which cause loss of vision in glaucoma. "Our research provides greater understanding of the genetic pathway that leads to irreversible blindness in glaucoma, and importantly, points to a possible treatment to address the root cause of the vision loss," Milica Margeta, M.D., Ph.D., lead author and a glaucoma specialist and scientist at Mass Eye and Ear, and assistant professor of ophthalmology at Harvard Medical School, said. "This study shows that the APOE-mediated disease cascade is clearly harmful in glaucoma, and that when you interfere with it genetically or pharmacologically, you can actually stop the disease