Pregnancy

引言 怀孕期间，准妈妈的身体如同一个精密仪器，其运作不仅关乎自身健康，更是直接影响胎儿的成长和未来健康。激素水平、新陈代谢、营养需求……种种变化都在孕期悄然发生。如何有效管理孕期健康，及早发现并应对潜在风险，例如妊娠糖尿病和高血压等，是保障母婴健康的关键。 2024年10月9日，华大生命科学研究院、华大基因联合武汉儿童医院、深圳市妇幼保健院、中山大学、厦门大学、苏州市立医院、华南理工大学、广州市妇女儿童医疗中心、厦门大学附属妇女儿童医院等多家机构，在Cell Genomics上以封面、专辑的形式发表了6篇研究论文，系统解析了孕期生化表型组、母子代谢指标及妊娠期糖尿病的遗传基础，揭示了遗传因素在母婴健康中的重要作用，为孕期健康管理提供了新的视角。 Cell Genomics 封面 相较于癌症、心脑血管疾病等研究热点，妊娠相关的遗传学研究少之又少，在亚洲人群中更是如此。然而，我们常见的产检项目，如血常规、肝功能、肾功能检查，孕妈们最害怕的空腹血糖检测，以及维生素等营养的补充等，其实都与遗传，也就是我们常说的基因有关。本系列研究揭示了这些指标与基因之间的关联，为未来个性化的母婴健康管理提供了可能。 揭示孕期表型组与基因的关联：精准解读身体信号 本次研究利用团队自主开发的新型研究方法，首次系统性地对孕期各类产检生化指标进行全面的遗传关联分析，成功识别出410个表型组相关基因——这些基因与产检中的血常规、肝功能、肾功能等检查指标息息相关。其中，116个(28%)为新发现的关联基因，31个为潜在的孕期人群特有关联，如血肌酐和HELLPAR基因。这些基因主要富集在雌激素抵抗和免疫相关通路，与免疫系统、女性生殖系统的组织/细胞高度相关，为理解遗传因素对妊娠表型和母体健康的影响提供了全新视角。 孕期表型论文图形摘要（Credit: Cell Genomics） 解码孕期代谢指标的基因奥秘：个性化营养补充的未来方向 许多孕妈在孕期会补充复合维生素，但每位准妈妈的具体营养需求其实各不相同。本研究通过串联质谱技术，检测了84种孕期代谢指标（如氨基酸、维生素等），并识别出了53个与之相关的基因，其中23个为新发现。此外，研究还发现同一种代谢物在妊娠期与非妊娠期的中青年女性中表现出不同的遗传效应，揭示了妊娠期代谢物水平特异的遗传调控机制。 进一步的孟德尔随机化分析显示，这些母体代谢指标与15种中老年疾病及表型间存在潜在的因果关系。该研究成果为理解孕期母体代谢物的遗传基础及其对母婴健康的影响提供了新的科学依据，也为个性化营养补充方案的制定提供了宝贵的科学参考。 孕期代谢论文图形摘要（Credit: Cell Genomics） 揭示影响新生儿代谢物水平的遗传因素：助力出生缺陷防控 代谢物指标也是新生儿健康成长的重要反映。本研究对75种新生儿代谢物及比例进行分析，估计出这些代谢物在新生儿群体中的平均遗传度为76%，在基因组上发现了30个显著相关的信号，其中11个“代谢物-基因”关联为新的发现。基于单细胞转录组数据进一步挖掘，发现这些基因在新生儿肝细胞和肾小管细胞中特异表达。这些结果为理解新生儿代谢物浓度的影响因素提供了参考。 新生儿代谢论文图形摘要（Credit: Cell Genomics） 破解孕期血糖控制的基因密码：助力预测并管理妊娠糖尿病风险 血糖水平是衡量孕期母婴健康的重要指标，然而，孕前血糖正常的女性，孕后也有可能出现妊娠糖尿病。妊娠糖尿病是否与孕妇本身的遗传因素相关呢？ 本研究发现了25个与血糖相关的基因，不仅验证了妊娠糖尿病与CDKAL1和MTNR1B基因的已知关联，更首次在亚洲人群中发现孕期空腹血糖与雌激素受体基因ESR1的关联。ESR1基因曾被报道与高血压相关，本研究通过遗传相关性和孟德尔随机化分析也进一步揭示了妊娠期血糖水平与激素调节及高血压之间的复杂关系。此外，研究团队还根据此次研究成果，开发了新型妊娠糖尿病风险预测算法，为孕期血糖管理提供了全新思路。 孕期血糖论文图形摘要（Credit: Cell Genomics） Cell Genomics同期还配发了作者访谈，专辑论文的12位主要作者对母婴健康遗传学研究的未来进行了展望。总而言之，这一系列研究全面揭示了孕期表型、血糖特征及营养代谢物的遗传基础，丰富了亚洲母婴人群相关遗传学研究。相关成果不仅为理解妊娠期母婴健康的遗传机制提供了全新视角，还为未来的妊娠健康管理和疾病预防带来了新的科学依据。这些发现有望促进妊娠期疾病早期筛查和个性化健康管理的进展，助力我国母婴健康水平的提升。研究团队也将上述研究中所使用到的算法和研究体系在此次专辑的方法学专题论文中公开，为未来研究提供方法学支持。 参考文献 https://www.cell.com/issue/S2666-979X(23)X0011-1# 责编|探索君 排版|探索君 文章来源|“BioArt” End 往期精选 围观 一文读透细胞死亡(Cell Death) | 24年Cell重磅综述（长文收藏版） 热文 Cell | 是什么决定了细胞的大小？ 热文 Nature | 2024年值得关注的七项技术 热文 Nature | 自身免疫性疾病能被治愈吗？科学家们终于看到了希望 热文 CRISPR技术进化史 | 24年Cell综述

Reunion to Sponsor Scholarships that will Train Healthcare Professionals on Maternal Mental Health Disorders, including Postpartum Depression Reunion’s Phase 2 RECONNECT Study in Postpartum Depression is Actively Recruiting Patients MORRISTOWN, N.J., Oct. 09, 2024 (GLOBE NEWSWIRE) -- Reunion Neuroscience Inc., a clinical-stage biopharmaceutical company committed to revolutionizing the treatment of underserved mental health disorders through the advancement of next-generation psychedelic therapeutic solutions, today announced a new partnership with the Seleni Institute, a New York City based nonprofit that provides treatment and training regarding maternal mental health and wellness issues. This partnership will grant healthcare professionals access to the Seleni Institute’s comprehensive, evidence-based training on maternal mental health conditions such as perinatal mood and anxiety disorders (PMADs) and perinatal grief. The courses provide expert instruction on the effective diagnosis and treatment of reproductive and maternal health disorders including postpartum depression (PPD). “At Reunion, we recognize the urgent need to address and increase awareness of maternal mental health conditions, which affect 1 in 5 women during pregnancy or following childbirth. Through our partnership with the Seleni Institute and sponsorship of evidence-based training courses, we aim to ensure that healthcare professionals have access to valuable educational resources to more effectively diagnose and treat maternal mental health disorders,” said Greg Mayes, President and Chief Executive Officer of Reunion Neuroscience. “In tandem with this partnership, we continue to support the broader maternal mental health community with the advancement of our Phase 2 RECONNECT trial evaluating our lead candidate RE104 in adult female patients with moderate-to-severe PPD.” The RECONNECT Phase 2 clinical trial (NCT06342310), a multicenter, randomized, double-blind, active dose-controlled clinical trial is evaluating the safety and efficacy of a single subcutaneous dose of RE104 in adult female patients with moderate-to-severe PPD. To learn more about the study and eligibility for enrollment, please visit www.ppdreconnectstudy.com. “We are thrilled to partner with Reunion Neuroscience in our shared mission to support maternal mental health,” said Seema Bajaj, Executive Director of the Seleni Institute. “Through this sponsorship, Reunion is collaborating in our initiative to provide access to valuable training materials to better equip healthcare providers with the knowledge and tools necessary to properly address these critical issues, including PPD. We are proud to continue our combined efforts to further increase awareness and reduce stigma around reproductive and maternal mental health conditions.” Since its inception in 2011, the Seleni Institute has been at the forefront of advancing maternal mental health, having trained over 6,200 professionals across 30 countries and impacted more than 10 million lives globally. Seleni offers a hybrid approach that includes clinical services for individuals, couples, and families as well as accredited training for healthcare providers. About Reunion Neuroscience Inc.Reunion Neuroscience is a clinical-stage biopharmaceutical company committed to revolutionizing the treatment of underserved mental health disorders through the advancement of next-generation psychedelic therapeutic solutions. In August of 2023, Reunion Neuroscience became a private company and in May 2024, the Company completed a Series A financing co-led by MPM BioImpact and Novo Holdings. Reunion is actively investigating the use of its lead product candidate, RE104, in postpartum depression, as well as in additional neuropsychiatric indications, including adjustment disorders in patients diagnosed with mental illnesses like cancer, where there remains a significant unmet need that is not addressed by the current standard of care. For more information about the company, visit https://reunionneuro.com. About the Seleni InstituteThe Seleni Institute is a leading therapy center and global training organization committed to advancing women’s mental health through all stages of reproductive life. As a recognized leader in maternal and reproductive mental health, Seleni provides specialized therapy services for individuals, couples, and families navigating challenges such as infertility, pregnancy, and menopause, while equipping health professionals with the tools to diagnose and treat reproductive mental health issues effectively. Founded in 2011 by George and Nitzia Logothetis, Seleni has positively impacted over 10 million lives worldwide. Learn about how Seleni supports mental health for life’s milestones at seleni.org and explore the organization’s training curriculum at training.seleni.org. For more information on the Seleni Scholarship and to apply, please visit Seleni Scholarship for Maternal Mental Health Professionals. For further information: IR Inquiries:Courtney MogerleyPrecision AQcourtney.mogerley@precisionaq.com PR Inquiries:Ashley Murphy Precision AQashley.murphy@precisionaq.com

PatientPoint, a patient engagement company, announced a partnership with MyHealthTeam, a social network company. The partnership aims to provide patients in more than 35,000 PatientPoint locations the chance to connect with and get support from other people who have the same chronic health problems. PatientPoint's waiting room and exam room screens feature messages that touts MyHealthTeam's platform which serves patients via a growing network of greater than 60 patient communities. When patients scan a QR code on PatientPoint's devices, they become part of pertinent online communities where they can get support from other patients, as well as information to help guide them in managing their healthcare. According to the two companies in a five-week pilot program, the partnership witnessed a strong commitment among patients with obesity or diabetes. "Our partnership with MyHealthTeam underscores PatientPoint's dedication to delivering relevant resources and information in the critical moments when care decisions are made," Mike Collette, founder and chief executive officer at PatientPoint, said in a statement. "This collaboration reinforces our leadership in the point-of-care space and furthers our purpose of empowering better health for all. We know educated, engaged, empowered patients make better decisions about their health, leading to patients living more supported, informed and fulfilled lives as they manage their conditions." Eric Peacock, cofounder and chief executive officer of MyHealthTeam noted that with the partnership, patients will be able to get the care they need from their doctor, plus ongoing support, guidance and education they need when they are not with their doctor. "By making MyHealthTeam's patient communities available through PatientPoint's extensive network of physician offices, we can improve health outcomes by providing timely support and information helping people feel more connected and informed before, during and after their visit with the doctor," said Peacock. THE LARGER TREND In 2021, PatientPoint merged with Outcome Health creating a new platform, PatientPoint Health Technologies, aimed at facilitating patient-clinician communications. In 2019, PatientPoint joined forces with the American Medical Association (AMA), to help in the management of Type 2 diabetes and cardiovascular disease. The tech companies teamed up to disseminate AMA-developed chronic disease education and engagement content via its point of care digital platform. In 2022, MyHealthTeam created a network for people with long COVID. The myCOVIDteam tool was the result of a partnership between MyHealthTeam and South African payer Discovery. The new community is designed to offer individuals living with long COVID foundational information, including risk facts, symptoms and treatment options. In 2020, MyHealthTeam teamed up with EMD Serono for a new information resource for patients with multiple sclerosis (MS) who are pregnant or might become pregnant. The tool, Family Planning Resource Center, is available within MyMS team, part of MyHealthTeam’s social network, designed to help individuals experiencing MS connect to each other. Patients use the feature to read about common myths linked with MS and pregnancy.