Collaboration Aims to Harness HiFi Sequencing to Improve Diagnosis and Treatment of Subfertility and Recurrent Pregnancy Loss
SINGAPORE, Sept. 11, 2024 (GLOBE NEWSWIRE) -- The HiFi Solves Sub-fertility Consortium, an innovative collaboration involving five leading centers across the Asia-Pacific region, announces work aimed at redefining the landscape of fertility research. Utilizing PacBio HiFi long-read sequencing, the consortium, led by KK Women's and Children's Hospital (KKH) in Singapore, is pioneering the use of PacBio HiFi long-read sequencing to enhance the diagnosis and treatment of subfertility and recurrent miscarriages (RPL).
The HiFi Solves Sub-fertility Consortium integrates DNAstack's federated data platform, the world's first solution to enable the creation and analysis of global federated networks of data in compliance with industry standards set by the Global Alliance for Genomics & Health. This platform allows for seamless global collaboration on complex datasets without the need to move the data, ensuring sensitive genomic information remains secure while supporting efficient analysis and compliance with regional data governance.
Under the leadership of Associate Professor Saumya S. Jamuar, the consortium brings together esteemed experts: Professor Vorasuk Shotelersuk from the Center of Excellence for Medical Genomics, Chulalongkorn University, Thailand; Professor Ming Chen from Changhua Christian Hospital Medical Center, Taiwan; Assistant Professor Jee Soo Lee from Seoul National University College of Medicine (SNUCM) Laboratory Medicine, South Korea; and Associate Professor Sohyun Hwang, CHA Bundang Medical Center, CHA University School of Medicine, South Korea. Together, they are breaking new ground in fertility research with the goal of revolutionizing care for millions affected by subfertility and RPL globally.
"The formation of the HiFi Solves Sub-fertility Consortium is a significant step forward in fertility research," said Christian Henry, President and Chief Executive Officer of PacBio. "By bringing together leading experts and leveraging the power of HiFi sequencing along with DNAstack's federated data platform, we are poised to make substantial advancements in the diagnosis and treatment of subfertility and recurrent pregnancy loss."
Subfertility affects approximately one in six people globally, while RPL impacts 1-2% of women, often resulting in considerable psychological and financial strain. The consortium is harnessing the capabilities of PacBio HiFi sequencing technology to tackle these challenges head-on. Unlike traditional methods—such as karyotyping, chromosomal microarray, and whole-exome sequencing—HiFi sequencing offers a comprehensive, high-resolution approach that identifies complex chromosomal rearrangements and sub-microscopic abnormalities that other technologies may miss.
This holistic view allows for a more precise characterization of chromosomal changes, particularly beneficial in cases of subfertility and RPL where multiple genetic factors may be involved.
The consortium's research is poised to significantly reduce the often-frustrating 'diagnostic odyssey' that many patients endure, offering a more streamlined and effective pathway to diagnosis and care. This initiative is expected to greatly enhance the success of assisted reproductive technologies, such as preimplantation genetic testing for structural rearrangements, leading to improved conception rates and healthier pregnancies.
Spanning through the end of 2025, the consortium's phased approach includes patient recruitment, advanced sequencing, bioinformatics analysis, and rigorous validation of results. Beyond its immediate impact, the consortium aims to influence clinical practices globally, contributing to peer-reviewed publications and presenting breakthroughs at international conferences.
This ambitious project represents a significant leap forward in the application of genomic medicine to reproductive health, with the potential to deliver profound benefits to individuals facing these challenging conditions, underscoring the transformative power of collaborative research and advanced genomic technologies in addressing complex health issues.
For more information, please contact:
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Todd Friedman
ir@pacificbiosciences.com
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Contacts (KKH)
Charlotte Sam
media@kkh.com.sg
About PacBio
PacBio (NASDAQ: PACB) is a premier life science technology company that designs, develops, and manufactures advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies stem from two highly differentiated core technologies focused on accuracy, quality and completeness which include our HiFi long-read sequencing and our SBB short-read sequencing technologies. Our products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. For more information, please visit and follow @PacBio.
PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.
About KK Women's and Children's Hospital (KKH) in Singapore
KK Women's and Children's Hospital (KKH) is Singapore's largest tertiary referral centre for obstetrics, gynaecology, paediatrics and neonatology. The academic medical centre specialises in the management of high-risk conditions in women and children.
Driven by a commitment to deliver compassionate, multidisciplinary care to patients, KKH leverages research and innovation to advance care. In 2021, the hospital launched the SingHealth Duke-NUS Maternal and Child Health Research Institute (MCHRI) to support the growth of every woman and child to their fullest potential, and transform national heath in the region.
Some of the hospital's breakthroughs include uSINE, a landmark identification system for the administration of spinal epidural, the discovery of new genetic diseases like Jamuar Syndrome, and a series of guidelines for women and children to improve population health.
The academic medical centre is also a major teaching hospital for Duke-NUS Medical School, Yong Loo Lin School of Medicine and Lee Kong Chian School of Medicine. In addition, KKH runs the largest specialist training programme for Obstetrics and Gynaecology, and Paediatrics in Singapore.
KKH was founded in 1858 and celebrates its 100th year as a maternity hospital in 2024. For more information, visit
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About DNAstack
DNAstack is a Canadian company whose mission is to save and improve lives by unlocking the collective power of the world's genomics and health data. Omics AI is a software suite by DNAstack that enables privacy-preserving federated insights across distributed data. DNAstack is a global leader in the development of open, interoperable standards as part of the Global Alliance for Genomics & Health (GA4GH).
Forward-Looking Statements
This press release may contain "forward-looking statements" within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. All statements other than statements of historical fact are forward-looking statements, including statements relating to the uses, coverage, advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies, including in connection with the HiFi Solves Sub-fertility Consortium research and its efforts to improve the research, diagnosis and treatment of female infertility; efforts to reduce the diagnostic odyssey and enhance the success of assisted reproductive technologies; and other future events. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties and could cause actual outcomes and results to differ materially from currently anticipated results, including, challenges inherent in sequencing a large number of genomes, and the difficulty of generating discoveries across various areas of research; potential product performance and quality issues; third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate PacBio's patents or proprietary rights; and other risks associated with international operations. Additional factors that could materially affect actual results can be found in PacBio's most recent filings with the Securities and Exchange Commission, including PacBio's most recent reports on Forms 8-K, 10-K, and 10-Q, and include those listed under the caption "Risk Factors." These forward-looking statements are based on current expectations and speak only as of the date hereof; except as required by law, PacBio disclaims any obligation to revise or update these forward-looking statements to reflect events or circumstances in the future, even if new information becomes available.
合作旨在利用HiFi测序来改善对不孕症和复发性流产的诊断和治疗
新加坡,2024年9月11日(GLOBE NEWSWIRE)——由亚太地区五个领先中心组成的创新合作组织HiFi解决不孕不育问题联盟宣布了旨在重新定义生育研究格局的工作。该联盟利用PacBio HiFi长读测序,由新加坡Kk妇幼医院(KKH)牵头,率先使用PacBio HiFi长读测序来增强对不孕症和复发性流产(RPL)的诊断和治疗。
HiFi Solves Subertility Consortium整合了DNAstack的联邦数据平台,这是世界上第一个能够根据全球基因组学与健康联盟制定的行业标准创建和分析全球联邦数据网络的解决方案。该平台允许在无需移动数据的情况下就复杂的数据集进行无缝的全球协作,从而确保敏感的基因组信息保持安全,同时支持高效分析和遵守区域数据治理。
在Saumya S. Jamuar副教授的领导下,该联盟汇集了尊敬的专家:泰国朱拉隆功大学医学基因组学卓越中心的Vorasuk Shotelersuk教授;中国台湾彰化基督教医院医学中心的陈明教授;韩国首尔国立大学医学院(SNUCM)实验室医学助理教授Jee Soo Lee和Sohyun 副教授王,韩国 CHA 大学医学院 CHA Bundang 医学中心。他们共同开创了生育力研究的新天地,目标是彻底改变全球数百万受不孕症和RPL影响的护理方式。
PacBio总裁兼首席执行官克里斯蒂安·亨利表示:“HiFi解决亚生育问题联盟的成立是生育研究向前迈出的重要一步。”“通过汇集领先的专家,利用HiFi测序的力量以及DNAstack的联邦数据平台,我们有望在不孕症和反复流产的诊断和治疗方面取得实质性进展。”
全球约有六分之一的人患有不孕症,而RPL影响着1-2%的女性,通常会造成相当大的心理和经济压力。该联盟正在利用PacBio HiFi测序技术的能力来直面这些挑战。与核型分析、染色体微阵列和全外显子组测序等传统方法不同,HiFi 测序提供了一种全面、高分辨率的方法,可识别其他技术可能遗漏的复杂染色体重排和亚显微异常。
这种整体视图可以更精确地描述染色体变化,对于可能涉及多种遗传因素的不孕症和RPL的情况尤其有益。
该联盟的研究有望显著减少许多患者所经历的经常令人沮丧的 “诊断之旅”,为诊断和护理提供更简化和有效的途径。预计该举措将大大提高辅助生殖技术的成功,例如用于结构重组的植入前基因检测,从而提高受孕率和更健康的怀孕。
该联盟的分阶段方法持续到2025年底,包括患者招募、高级测序、生物信息学分析和严格的结果验证。除了直接影响外,该联盟还旨在影响全球临床实践,为同行评审的出版物做出贡献,并在国际会议上展示突破性成果。
这个雄心勃勃的项目代表着基因组医学应用于生殖健康的重大飞跃,有可能为面临这些挑战性条件的人们带来巨大好处,凸显了合作研究和先进基因组技术在解决复杂健康问题方面的变革力量。
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pr@pacificbiosciences.com
联系人 (KKH)
夏洛特·萨姆
media@kkh.com.sg
关于 PacBio
PacBio(纳斯达克股票代码:PACB)是一家首屈一指的生命科学技术公司,设计、开发和制造先进的测序解决方案,以帮助科学家和临床研究人员解决复杂的基因问题。我们的产品和技术源自两项高度差异化的核心技术,侧重于准确性、质量和完整性,其中包括我们的HiFi长读测序和我们的SBB短读测序技术。我们的产品为广泛的研究应用提供解决方案,包括人类种系测序、动植物科学、传染病和微生物学、肿瘤学和其他新兴应用。欲了解更多信息,请访问并关注 @PacBio。
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新加坡Kk妇幼医院(KKH)简介
Kk妇幼医院(KKH)是新加坡最大的产科、妇科、儿科和新生儿科三级转诊中心。该学术医疗中心专门管理妇女和儿童的高危疾病。
在承诺为患者提供富有同情心的多学科护理的推动下,KKH利用研究和创新来推动护理的发展。2021年,该医院成立了SingHealth Duke-NUS母婴健康研究所(MCHRI),以支持每位妇女和儿童发挥最大潜力,并改变该地区的国民健康。
该医院的一些突破包括uSine,这是一种具有里程碑意义的脊柱硬膜外麻醉识别系统,发现了新的遗传性疾病,例如Jamuar综合症,以及一系列改善人口健康的妇女和儿童指南。
该学术医疗中心也是杜克-新加坡国立大学医学院、杨露莲医学院和李光健医学院的主要教学医院。此外,KKH还开办了新加坡最大的妇产科和儿科专家培训计划。
KKH成立于1858年,并于2024年庆祝其作为妇产医院成立100周年。欲了解更多信息,请访问
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关于 DNAstack
DNAstack 是一家加拿大公司,其使命是通过释放世界基因组学和健康数据的集体力量来拯救和改善生活。Omics AI 是 DNAstack 推出的软件套件,可为分布式数据提供隐私保护的联合见解。作为全球基因组学与健康联盟(GA4GH)的一部分,DNAstack是开发开放、可互操作标准的全球领导者。
前瞻性陈述
本新闻稿可能包含经修订的1934年《证券交易法》第21E条和1995年《美国私人证券诉讼改革法》所指的 “前瞻性陈述”。除历史事实陈述以外的所有陈述均为前瞻性陈述,包括与使用PacBio产品或技术的用途、覆盖范围、优势、质量或性能,或益处或预期收益有关的陈述,包括与HiFi Solves Subertility联盟研究及其改善女性不育症研究、诊断和治疗的努力;减少辅助生殖技术成功率的努力;以及其他未来事件有关的陈述。您不应过分依赖前瞻性陈述,因为前瞻性陈述受假设、风险和不确定性的影响,并可能导致实际结果和结果与当前预期的结果存在重大差异,包括对大量基因组进行测序所固有的挑战,以及难以在各个研究领域得出发现;潜在的产品性能和质量问题;指控侵犯专利和专有权利或试图宣布PacBio的专利或专有权利无效的第三方索赔权利;以及与国际行动相关的其他风险。可能对实际业绩产生重大影响的其他因素可以在PacBio最近向美国证券交易委员会提交的文件中找到,包括PacBio关于8-k、10-k和10-Q表的最新报告,以及在 “风险因素” 标题下列出的报告。这些前瞻性陈述基于当前的预期,仅代表截至本文发布之日;除非法律要求,否则PacBio不承担任何修改或更新这些前瞻性陈述以反映未来事件或情况的义务,即使有新信息也是如此。