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Meeting report: the Human Genome Meeting (HGM) 2019 in Seoul, Korea.
Human Genomics ( IF 4.5 ) Pub Date : 2019-08-01 , DOI: 10.1186/s40246-019-0218-2
Angela Solano 1 , Giuseppe Novelli 2, 3 , Shruti Baghat 4 , Piero Carnici 4 , Gert-Jan van Ommen 5 , Juergen K V Reichardt 6
Affiliation  

The 2019 Human Genome Meeting (HGM2019) of the Human Genome Organization (HUGO) was held in Seoul, Korea, from 24 to 26 April 2019, at Ewha Woman’s University on their beautiful campus (https://en.wikipedia.org/wiki/Ewha_Womans_University). The twenty-third HGM was a truly international event, attracting some 507 registrants from 29 countries spanning 6 continents who interacted both formally and informally at 4 plenary lectures, 10 parallel scientific sessions, 10 ancillary events, such as workshops, luncheon sessions, 2 social events, poster sessions, and interactions with exhibitors. (https://www.hugo-hgm.org/program/scientific). Furthermore, the HGM in Seoul featured 42 international and 7 local distinguished speakers highlighting the worldwide draw of this annual meeting.

Diana Bianchi (National Institutes of Health, NIH, USA) presented in her lecture entitled “Prenatal Genomic Medicine: Transforming Obstetrical Practice and New Biological insights” her view on the biggest example of the impact of genomics in clinical medicine. The presentation was based on the description of the changes in obstetric practice as a result of the application of non-invasive prenatal testing (NIPT). The reduction of invasive diagnostic procedures is an important and relevant goal since miscarriages as a consequence of older procedures would be eliminated. It is important though that any false-positive results (a very low percentage, indeed) may be a probable finding, to be verified with other methodologies before arriving at a final conclusion and making clinical decisions.

Harry Ostrer (Albert Einstein College of Medicine, USA) presented his personal journey through human genetics and genomics as a physician and researcher over some 30+ years. Harry’s talk entitled “Personalized Medicine, Precision Medicine and Global Health” highlighted the scientific and life insights he gathered over the decades which include his ethnic group’s genetic history and 103+ prevalent mutations that could serve as group-specific preventive genetics in (Ashkenazi) Jews. He highlighted the importance of dissecting genetic mechanisms and pathways using contemporary technologies for understanding the pathogenesis of disorders of sex development and other disorders. He showed how lessons from rare diseases of DNA repair could be applied for understanding pathways of common cancer susceptibilities and that challenging oneself to move beyond one’s comfort zone could lead to more impactful research. Ostrer also discussed his role as a sole plaintiff with standing in the landmark BRCA case against Myriad Genetics in the USA, which reset the framework for intellectual property in human genetics.

One of the highlights of the HGM in Seoul was the presentation by Leslie Biesecker (NHGRI, the National Human Genome Research Institute, USA, and current President of the ASHG, the American Society of Human Genetics; Fig. 1) entitled “The Myths of Clinical Genomics.” Les persuasively argued for an urgent change of paradigm in the use of genomics in medicine: moving away from treating a patient’s disease to preventing it in the first place. He also recommended balancing risks and benefits in medical genomics. Finally, Biesecker proposed a “positivist view” of genomics embracing widely implemented genetic testing, secondary findings, carrier screening, and pharmacogenetics. The talk led to a lively discussion with the audience including a comment by one of us (JKVR) that genomics had already once before precipitated a radical cultural change when we transitioned from genetics into genomics. This change included switching from hypothesis-driven research to more discovery-based investigations, at the time often termed “fishing expeditions.”

Fig. 1
figure1

Les Biesecker giving his plenary presentation at HGM2019 in Seoul, Korea, on the future of clinical genomics

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V. Narry Kim (Institute of Basic Sciences, South Korea) presented her lecture entitled “RNA Terminal Modification in Gene Regulation.” She described a novel technology developed in her lab called TAIL-seq which reveals the 3′-end sequences of RNA. Using TAIL-seq she discovered that certain mRNAs have mixed poly(A) tails, and deadenylation of these mRNAs is stalled in the presence of G, U, or C bases. Furthermore, her recent work has shown that TENT4A/B (which are terminal nucleotidyltransferases) produce mixed tails which shield mRNAs from rapid degradations. Narry’s work has revealed a new factor in post-transcriptional regulation. Kim also discussed the potential of using mixed tailing as an RNA-based gene therapy which could enhance the stability of mRNAs.

In the microbiomics session, Eran Segal (Weizmann Inst, Israel) presented major strides in personalizing antidiabetic diets, by calibrating the stabilizing vs. destabilizing effects on blood glucose level of large numbers of nutrients in a 1000-p Israeli cohort. The effects of the nutrients and composite diets on the prediabetic state turns out to correlate with lifestyle, metabolome, microbiome, and clinical data. His group developed an algorithm which reproducibly predicts the stabilizing vs destabilizing effects of different isocaloric diets in different people. Strikingly, some meals that caused pronounced glucose peaks in one person had only mild effects on others. The resulting personalized prediabetes prevention approach is now being employed in Israel and the USA. Second, also remarkable, the microbiome of persons with different ancestry but the similar environment was found to be largely similar, suggesting that gut microbiome composition is dominated by the environment rather than by genetics. Finally, specific microbial subgenomic variations (SGV) were found, which associated with host risk factors both in the Israeli cohort and in the Dutch Lifelines cohort. In the next talk, Cisca Wijmenga (UMC Groningen, Netherlands) used the same Lifelines cohort to take gut biology and epidemiology another step further by creating 3D mini-guts-on-a-chip from hiPSC cells from the Lifelines-DEEP cohort, a section of Lifelines extensively typed by host and microbiome sequencing, genetics, metabolomics, and deep phenotyping. The chip-based system allows for controlled modeling of internal and external intestinal stimuli, including cultured microbes, that can be analyzed by imaging and cellular and molecular read-outs. Such gut-on-a-chip systems have great potential to improve our understanding of multifactorial diseases like inflammatory bowel disease and celiac disease and may help to accelerate the development of therapies. In the last talk of this session, George Weinstock (Jackson Lab, USA) showed the utility of well-designed inbred and crossbred mouse strains to study the host genetic control of microbial communities.

In the cancer genomics session, Nick Papadopoulos (Johns Hopkins, USA) presented the design and progress of the CancerSEEK approach, using multi-omics based on DNA variants in oncogenes and proteomics of a judicious selection of oncoproteins to detect subclinical, undiagnosed cancers as well as determining the cancer type. This approach, based on large datasets of UK Biobank, is expected to greatly improve the success of the early intervention. Currently, the work is in the validation stage using prospective samples from several cohort studies. In the next talk, Nic Waddell (Berghofer Institute, Australia) gave an overview of the current status and progress of NGS-based immunotherapy, highlighting the search for individualized predictors of the success or failure of the current modalities of cancer immunotherapy.

The single-molecule session contained some outstanding technological highlights of the meeting. In the first talk, Long Cai (CalTech, USA) blew away the audience by identifying, locating, and quantitating up to 10,000 transcripts in formalin-fixed single cells and tissue sections in situ. He did this by reproducibly hybridizing and washing, in up to 80 successive rounds, complex probe libraries labeled with 3 fluorescent channels. This seqFISH+ system generates unique temporal bar codes for all the RNAs in the sample, much like sequencing, thus yielding the required detection complexity. Indeed, the sequentiality is capable of resolving signals well beyond the optical diffraction limit of the microscope and cell size. Examples were shown of subcellular RNA localization, resolution of processes in interacting cells, and following the fate of nascent RNAs using intronic probes. Due to the power of the technology, it is plausible that direct in situ sequencing may even substitute the broadly used single RNA sequencing in large-scale consortia projects. In the next talk, Efrat Shema (Weizmann Institute, Israel) applied single-molecule imaging of individual nucleosomes as a tool to decipher the histone code at single nucleosome level, and combined this with sequencing the attached DNA to derive the precise genomic position of the epigenetic marking under study. This high-density fluorescent probing approach establishes multi-layered comprehensive data of the epigenome and seems amenable to a plethora of thus far intractable biological queries. In a third remarkable talk, Roser Vento (Wellcome Sanger Institute, UK) analyzed the female reproductive tissue using first-trimester placentas with matched maternal blood and decidual cells with the single-cell transcriptome. She analyzed HLA and immunomodulation, elaborating transcriptional patterns related to health and diseases, including pre-eclampsia, which is related to HLA. To get broader biological insights on how reproductive tissues work, she has constructed an interactome map of all the secreted peptides versus all receptors that are expressed in all the cells: such an approach is very useful to understand how cells are likely to interact during early human pregnancy.

In the session on consanguinity/rare genetics and carrier screening Fowzan Alkuraya (King Faisal Specialist Hospital and Research Centre, Saudi Arabia) presented his extensive experience utilizing high throughput DNA sequencing of recessive disorders in Saudi Arabia. The application of this technology has allowed the characterization of the genetic basis of different Mendelian diseases not only in research settings but also in the clinic. He elegantly demonstrated that as the data continue to accumulate, our understanding of genes, pathways, and molecular mechanisms will continue to evolve and translate into better diagnosis, prognosis, and therapies for these severe disorders prevailing in this country. Eva Maria Cutiongco-De La Paz (University of the Philippines, Manila, Philippines) presented her interesting data concerning “Identifying Genetic Variants Conferring Susceptibility to Infection in the Indigenous Population of the Philippines.” She demonstrated that common and rare FUT2 and/or A2ML1 gene variants confer susceptibility to otitis media, likely by modifying the middle ear microbiome through regulation of A antigen levels in epithelial cells. These studies suggested that multiple combinations of common and rare genetic variants plus environmental factors influence the individual otitis media phenotype as a complex trait.

An important workshop on recent aspects of Open Science organized by the HUGO Committee on Ethics, Law, and Society (CELS), the Human Variome Project (HVP) and the Ewha Institute for Biomedical Law and Ethics also took place. Many aspects were discussed. Participants paid attention to the role of open education and skills, Next Generation Sequencing metrics, the changing business models for scientific publications, the involvement of citizens science, and research integrity. It is important to develop new models that bind together “open science” and “open innovation,” experimenting with new models of investment, to offer stakeholders opportunities to accelerate innovation in this context. Some colleagues emphasized the right of citizens to benefit from science and the potential harm to health systems due to the non-use of data. At this point, the need was suggested to increase science infrastructures and the participation of citizens for more sustainable health care systems (e.g., bioinformatics, biobanks, and databases that are accessible by researchers, health care specialists, citizens).

James Keck (The Jackson Laboratory, USA) was a speaker in one of the two luncheon seminars of the last day, with the title “Utilization of New Humanized Mouse Models to Better Understand Emerging Immunomodulation Therapies.” He delivered a very challenging lecture on the utilization of the humanized mouse model in the most recent impacts in oncology and therapies based on immunomodulation. The characterization of these models to be used in immune oncology was depicted and the expectations, when more data will be obtained, about the new humanized model for natural killer cells are being obtained.

The Human Genome Meeting, for the second time after the previous one in Yokohama, featured a special session dedicated to trainees alone, in order to provide a venue for students and postdocs to interact with each other and established scientists invited for the events. Fourteen excellent short talks were selected from the submitted abstracts, which were presented between specials talks from seasoned scientists like Cisca Wijmenga, Jonas Korlach, and David Bentley, who gave outstanding advice to trainees. Advice ranged from risk-taking (take the risk to explore new avenues!) to the importance to develop original approaches and technologies, which will always provide new types of data leading to new biological understanding. The best trainees were awarded prizes (Fig. 2). The HGM also featured the Chen Awards again. To provide a deep sense of the local culture and cuisine, the meeting featured a wonderful conference dinner featuring local entertainment.

Fig. 2
figure2

Trainee awardees honored for their contributions at the HGM in Seoul

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The twenty-third Human Genome Meeting brought together over 500 participants from around the world to discuss recent advances in human genomics. Scientific highlights include placing genomics at the center of human wellbeing and disease prevention, advances in cancer and single-cell genomics, vibrant investigations of the microbiome, acknowledgment of the contributions of trainees, the future of scientific progress, and much more. Finally, planned future HGMs include Perth, Australia, next year, 2020, and Tel Aviv, Israel, in 2021 highlighting the worldwide nature of the HGMs.

Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.

A2ML1:

Alpha-2-macroglobulin-like 1

ASHG:

American Society of Human Genetics

CELS:

Committee on Ethics, Law, and Society

FUT2:

Galactoside 2-alpha-L-fucosyltransferase 2

HGM:

Human Genome Meeting

HUGO:

Human Genome Organization

HVP:

Human Variome Project

NHGRI:

National Human Genome Research Institute

NIH:

National Institutes of Health

NIPT:

Non-invasive prenatal testing

SGV:

Subgenomic variation

We thank Les Biesecker, Jennifer Lee, Cai Long, Harry Ostrer, Eran Segal, Efrat Shema, and Cisca Wijmenga for helpful comments on the write-up. JKVR is supported by IDFEC, the International Development Fund for Economy and Culture.

No funding was obtained for this report.

Affiliations

  1. INBIOMED, Facultad de Medicina, UBA-CONICET and Genotipificacion, DAC, CEMIC, Buenos Aires, Argentina
    • Angela Solano
  2. Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy
    • Giuseppe Novelli
  3. RIKEN Center for Integrative Medical Sciences, Yokohama, Japan
    • Shruti Baghat
    •  & Piero Carnici
  4. Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands
    • Gert-Jan van Ommen
  5. Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, QLD 4878, Australia
    • Juergen K. V. Reichardt
  6. Neuromed, IRCCS, Pozzilli, Isernia, Italy
    • Giuseppe Novelli
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Contributions

Each author contributed to the writing of this report and read the final version. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Juergen K. V. Reichardt.

Ethics approval and consent to participate

Ethics approval is not applicable to a meeting report.

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The authors declare that they have no competing interest.

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This paper is simultaneously published in the European Journal of Human Genetics, https://doi.org/10.1038/s41431-019-0461-y

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Solano, A., Novelli, G., Baghat, S. et al. Meeting report: the Human Genome Meeting (HGM) 2019 in Seoul, Korea. Hum Genomics 13, 35 (2019). https://doi.org/10.1186/s40246-019-0218-2

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Keywords

  • Human genomics
  • Sequencing
  • Ethics
  • Microbiome


中文翻译:

会议报告:2019年人类基因组会议(HGM)在韩国首尔举行。

人类基因组组织(HUGO)的2019年人类基因组会议(HGM2019)在2019年4月24日至26日在韩国首尔市美丽的梨花女子大学举行(https://en.wikipedia.org/wiki / Ewha_Womans_University)。第二十三届HGM是一次真正的国际性活动,吸引了来自六大洲29个国家的507名注册者,他们在4次全体演讲,10场并行科学会议,10场辅助活动(如研讨会,午餐会,2场社交活动)上进行了正式和非正式的互动活动,海报会议以及与参展商的互动。(https://www.hugo-hgm.org/program/scientific)。此外,在汉城举行的HGM吸引了42位国际和7位当地杰出演讲者,重点介绍了本次年会的全球影响力。

Diana Bianchi(美国国立卫生研究院,美国国立卫生研究院)在其题为“产前基因组医学:转变产科实践和新生物学见解”的演讲中介绍了她对基因组学在临床医学中影响最大的例子的看法。该介绍基于对非侵入性产前检查(NIPT)应用导致的产科实践变化的描述。减少侵入性诊断程序是一个重要且相关的目标,因为将消除因旧程序导致的流产。重要的是,任何假阳性结果(实际上是非常低的百分比)可能都是一个可能的发现,在得出最终结论并做出临床决定之前,需要用其他方法进行验证。

哈里·奥斯特雷(Harry Ostrer)(美国阿尔伯特·爱因斯坦医学院)介绍了他在人类遗传学和基因组学领域的个人经历,历时30余年。哈利(Harry)在题为“个性化医学,精密医学和全球健康”的演讲中强调了他在过去几十年中收集到的科学和生活见解,其中包括他的族裔的遗传历史和103多种普遍的突变,这些突变可以作为(Ashkenazi)犹太人的特定于群体的预防遗传学。他强调了使用当代技术剖析遗传机制和途径以了解性发育障碍和其他障碍的发病机理的重要性。他展示了如何从罕见的DNA修复疾病中汲取教训,以用于理解常见癌症易感性的途径,以及挑战自我超越自己的舒适区可能会导致更具影响力的研究。奥斯特(Ostrer)还讨论了他作为唯一原告的角色,参与了美国针对无数遗传学的具有里程碑意义的BRCA案,该案重设了人类遗传学知识产权框架。

首尔HGM的一大亮点是Leslie Biesecker(NHGRI,美国国家人类基因组研究院,美国人类遗传学会ASHG的现任主席;图1)的主题为“人类遗传学的神话”的演讲。临床基因组学。” 莱斯(Les)有说服力地主张在医学中使用基因组学应立即改变范式:从治疗患者的疾病转向首先预防疾病。他还建议平衡医学基因组学的风险和收益。最后,比塞克(Biesecker)对基因组学提出了“实证主义者的观点”,其中包括广泛实施的基因检测,次要发现,载体筛选和药物遗传学。演讲引发了与观众的热烈讨论,其中包括我们当中的一个人(JKVR)的评论,当我们从遗传学转变为基因组学时,基因组学曾引发过一次根本的文化变革。这种变化包括从假设驱动的研究转向更多的基于发现的研究,在当时通常被称为“捕鱼远征”。

图。1
图1

Les Biesecker在韩国首尔举行的HGM2019大会上作了关于临床基因组学未来的演讲

全尺寸图片

V. Narry Kim(韩国基础科学研究所)介绍了她的演讲,题目为“基因调控中的RNA末端修饰”。她描述了在她的实验室开发的一种名为TAIL-seq的新技术,该技术揭示了RNA的3'端序列。她使用TAIL-seq发现某些mRNA具有混合的poly(A)尾巴,并且在存在G,U或C碱基的情况下,这些mRNA的腺苷酸化作用停止。此外,她最近的工作表明,TENT4A / B(末端核苷酸转移酶)产生混合的尾巴,从而阻止mRNA迅速降解。纳里(Narry)的工作揭示了转录后调控的新因素。Kim还讨论了将混合尾矿用作基于RNA的基因治疗可增强mRNA稳定性的潜力。

在微生物学会议上,Eran Segal(以色列魏兹曼研究所)通过校准1000例以色列人群中大量营养素对血糖水平的稳定与不稳定作用,展示了个性化抗糖尿病饮食的重要进展。营养成分和复合饮食对糖尿病前状态的影响与生活方式,代谢组,微生物组和临床数据相关。他的小组开发了一种算法,该算法可再现地预测不同等热量饮食在不同人群中的稳定与不稳定作用。令人惊讶的是,某些食物会在一个人中引起明显的葡萄糖峰值,而对其他人的影响却很小。由此产生的个性化糖尿病前预防方法现已在以色列和美国采用。其次,也很了不起 具有不同血统的人的微生物组,但是发现相似的环境在很大程度上相似,这表明肠道微生物组的组成由环境而不是遗传决定。最后,发现了特定的微生物亚基因组变异(SGV),这与以色列人群和荷兰生命线人群中的宿主风险因素有关。在下一个演讲中,Cisca Wijmenga(荷兰UMC格罗宁根大学)使用相同的Lifelines队列,通过从Lifelines-DEEP队列中的hiPSC细胞创建3D微型小片上芯片,进一步将肠道生物学和流行病学进一步发展。通过宿主和微生物组测序,遗传学,代谢组学和深度表型广泛分类的生命线部分。基于芯片的系统可对内部和外部肠道刺激进行受控建模,包括培养的微生物,可以通过成像以及细胞和分子读数进行分析。这样的单芯片肠道系统具有巨大的潜力,可以增进我们对炎症性肠病和腹腔疾病等多因素疾病的理解,并可能有助于加速治疗方法的发展。在本次会议的最后一讲中,乔治·温斯托克(美国杰克逊实验室)展示了精心设计的近交和杂交小鼠品系在研究微生物群落宿主遗传控制中的效用。

在癌症基因组学会议上,尼克·帕帕多普洛斯(Nick Papadopoulos)(美国约翰霍普金斯大学)介绍了CancerSEEK方法的设计和进展,该方法使用了基于癌基因中DNA变异体的多组学和明智选择的癌蛋白的蛋白质组学来检测亚临床的,未被诊断的癌症作为确定癌症类型的依据。这种方法基于UK Biobank的大型数据集,有望大大提高早期干预的成功率。目前,这项工作正在使用来自多个队列研究的前瞻性样本进行验证。在接下来的演讲中,Nic Waddell(澳大利亚伯格霍夫研究所)对基于NGS的免疫治疗的现状和进展进行了概述,重点介绍了寻找癌症免疫治疗当前方式成功或失败的个体化预测因子的方法。

单分子会议包含会议的一些杰出技术亮点。在第一个演讲中,Long Cai(美国CalTech公司)通过在原位福尔马林固定的单细胞和组织切片中鉴定,定位和定量多达10,000个转录本,引爆了观众他通过在多达80个连续回合中可重复地杂交和洗涤带有3个荧光通道标记的复杂探针库来实现此目的。该seqFISH +系统为样品中的所有RNA生成唯一的时间条形码,就像测序一样,从而产生了所需的检测复杂性。实际上,该顺序能够分辨出远远超出显微镜的光学衍射极限和细胞大小的信号。显示了亚细胞RNA定位,相互作用细胞过程的分解以及使用内含子探针追踪新生RNA命运的例子。由于这项技术的强大功能,直接原位测序甚至可以替代大规模联合体项目中广泛使用的单个RNA测序,这似乎是有道理的。在下一个演讲中,Efrat Shema(魏茨曼研究所,以色列)应用单个核小体的单分子成像作为一种工具,以破译单个核小体水平的组蛋白密码,并将其与对附着的DNA进行测序相结合,以得出正在研究的表观遗传标记的精确基因组位置。这种高密度的荧光探测方法建立了表观基因组的多层综合数据,似乎可以满足目前为止许多棘手的生物学问题。在第三次引人注目的演讲中,英国威尔康桑格研究所的Roser Vento使用孕早期胎盘,匹配的母体血和蜕膜细胞以及单细胞转录组分析了女性生殖组织。她分析了HLA和免疫调节,阐述了与健康和疾病相关的转录模式,包括与HLA相关的先兆子痫。

在血缘性/稀有遗传学和携带者筛选的会议上,Fowzan Alkuraya(沙特阿拉伯Faisal国王专科医院和研究中心)介绍了他在沙特阿拉伯利用隐性疾病的高通量DNA测序的丰富经验。这项技术的应用不仅可以在研究环境中,而且可以在临床中表征各种孟德尔疾病的遗传基础。他优雅地证明,随着数据的不断积累,我们对基因,途径和分子机制的理解将继续发展,并转化为对该国普遍存在的严重疾病的更好的诊断,预后和疗法。Eva Maria Cutiongco-De La Paz(菲律宾大学,马尼拉,菲律宾)介绍了她有关“确定赋予菲律宾土著居民易感性的遗传变异”的有趣数据。她证明了常见和罕见的FUT2和/或A2ML1基因变异可能导致中耳炎的发生,这可能是通过调节上皮细胞中A抗原水平来修饰中耳微生物组。这些研究表明,常见和罕见的遗传变异加上环境因素的多种组合会影响个体中耳炎的表型,这是一个复杂的特征。可能是通过调节上皮细胞中A抗原水平来修饰中耳微生物组。这些研究表明,常见和罕见的遗传变异加上环境因素的多种组合会影响个体中耳炎的表型,这是一个复杂的特征。可能是通过调节上皮细胞中A抗原水平来修饰中耳微生物组。这些研究表明,常见和罕见的遗传变异加上环境因素的多种组合会影响个体中耳炎的表型,这是一个复杂的特征。

由HUGO伦理,法律和社会委员会(CELS),Human Variome项目(HVP)和梨花生物医学法律与伦理研究所组织的一次关于开放科学最新方面的重要研讨会也举行了。讨论了许多方面。参与者关注开放式教育和技能的作用,下一代测序指标,科学出版物不断变化的商业模式,公民科学的参与以及研究的完整性。重要的是要开发将“开放式科学”和“开放式创新”结合在一起的新模式,并尝试新的投资模式,以便为利益相关者提供在这种情况下加速创新的机会。一些同事强调了公民有权从科学中受益以及由于不使用数据而对卫生系统造成的潜在危害。这一点,

詹姆士·凯克(James Keck)(美国杰克逊实验室)在最后一天的两次午餐研讨会中,以“利用新型人源化小鼠模型更好地了解新兴的免疫调节疗法”为主题演讲。他在基于免疫调节的肿瘤学和疗法的最新影响方面,就如何利用人性化的小鼠模型发表了非常具有挑战性的演讲。描绘了这些在免疫肿瘤学中使用的模型的特性,并在获得更多数据时获得了对自然杀伤细胞新型人源化模型的期望。

人类基因组会议是继上届在横滨举行的第二次会议,其特色是专门针对学员的特别会议,以便为学生和博士后提供相互交流的场所,并邀请了受邀参加活动的科学家。从提交的摘要中选择了14个出色的简短演讲,这些演讲是在Cisca Wijmenga,Jonas Korlach和David Bentley等经验丰富的科学家的特别演讲之间进行的,这些演讲为受训者提供了出色的建议。建议范围从冒险(冒险去探索新途径!)到开发原始方法和技术的重要性,这些方法和技术将始终提供导致新的生物学理解的新型数据。最佳学员获得了奖励(图2)。HGM还再次获得了Chen大奖。

图2
图2

在首尔举行的HGM上,受训学员获得了表彰

全尺寸图片

第二十三届人类基因组会议聚集了来自世界各地的500多名与会者,讨论了人类基因组学的最新进展。科学亮点包括将基因组学置于人类福祉和疾病预防的中心,癌症和单细胞基因组学的进步,对微生物组的充满活力的研究,对受训者的贡献的认可,科学进步的未来等等。最后,计划中的未来HGM包括明年的澳大利亚珀斯(2020年)和2021年的以色列特拉维夫,突出了HGM的全球性。

数据共享不适用于本文,因为在当前研究期间未生成或分析任何数据集。

A2ML1:

像α-2-巨球蛋白1

ASHG:

美国人类遗传学会

CELS:

道德,法律与社会委员会

FUT2:

半乳糖苷2-α-L-岩藻糖基转移酶2

HGM:

人类基因组会议

雨果:

人类基因组组织

HVP:

人类变体项目

NHGRI:

国家人类基因组研究所

NIH:

国立卫生研究院

NIPT:

无创产前检查

SGV:

亚基因组变异

感谢Les Biesecker,Jennifer Lee,Cai Long,Harry Ostrer,Eran Segal,Efrat Shema和Cisca Wijmenga对本文所做的有益评论。JKVR得到国际经济与文化发展基金会IDFEC的支持。

没有获得该报告的资金。

隶属关系

  1. INBIOMED,Facultad de Medicina,UBA-CONICET和Genotipificacion,DAC,CEMIC,布宜诺斯艾利斯,阿根廷
    • 安吉拉·索拉诺(Angela Solano)
  2. 罗马Tor Vergata大学生物医学与预防系,意大利罗马
    • 朱塞佩·诺维利(Giuseppe Novelli)
  3. 日本横滨理研综合医学科学中心
    • 什鲁蒂·巴格特(Shruti Baghat)
    •  &Piero Carnici
  4. 荷兰莱顿莱顿大学医学中心(LUMC)人类遗传学系
    • 杰特·简·范·奥门
  5. 詹姆斯·库克大学澳大利亚热带健康与医学研究所(AITHM),史密斯菲尔德,澳大利亚昆士兰州4878
    • 于尔根KV雷卡特
  6. Neuromed,IRCCS,波齐利,伊塞尔尼亚,意大利
    • 朱塞佩·诺维利(Giuseppe Novelli)
s
  1. Angela Solano查看作者出版物您还可以在以下位置搜索该作者
    • 考研
    • 谷歌学术
  2. Giuseppe Novelli查看作者出版物您还可以在以下位置搜索该作者
    • 考研
    • 谷歌学术
  3. Shruti Baghat查看作者出版物您还可以在以下位置搜索该作者
    • 考研
    • 谷歌学术
  4. Piero Carnici查看作者出版物您也可以在以下位置搜索该作者
    • 考研
    • 谷歌学术
  5. Gert-Jan van Ommen查看作者出版物您也可以在以下位置搜索该作者
    • 考研
    • 谷歌学术
  6. Juergen KV Reichardt查看作者出版物您也可以在以下位置搜索该作者
    • 考研
    • 谷歌学术

会费

每位作者都为本报告的撰写做出了贡献,并阅读了最终版本。所有作者阅读并认可的终稿。

通讯作者

对应于Juergen KV Reichardt。

道德规范的批准和同意参加

道德认证不适用于会议报告。

同意发表

发布同意书不适用。

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该论文同时发表在《欧洲人类遗传学杂志》 https://doi.org/10.1038/s41431-019-0461-y

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引用本文

Solano,A.,Novelli,G.,Baghat,S。等。会议报告:2019年人类基因组会议(HGM)在韩国首尔举行。哼声基因组 13, 35(2019)。https://doi.org/10.1186/s40246-019-0218-2

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  • DOI https //doi.org/10.1186/s40246-019-0218-2

关键词

  • 人类基因组学
  • 排序
  • 伦理
  • 微生物组
更新日期:2020-04-22
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