Reproductive Genetic Diagnostics 2015 - 生殖基因诊断学会 2015年 -
2015年11月18 - 19日
美国,马萨诸塞州,波士顿,Omni Parker House Hotel

快速发展的技术正改变生殖基因诊断和筛检的实施方法。但是,这些新技术的差异和极限、优点等,尚存在著一些不明确的部分。Cambridge Healthtech Institute首次举办的Reproductive Genetic Diagnostics学会,将介绍次世代定序(NGS)与定量PCR等的最新技术,并就带原者筛检、著床前诊断、以及受孕产物(POC)检查的优点与应用动向。

随著这些技术的普及,我们必须理解各个技术最被应用在哪个领域、及个别的能力,并确保在分析学上及临床上为有效的。而且,在技术发展比实务还快速的情况下,须谨慎看待做为测序对象的基因领域、诊断上所需的测序多样性之内容与量等,这些技术的应用所造成的伦理影响。本学会集结临床医师、研究人员、开发人员、业界领袖们,针对这些议题共同讨论。我们欢迎各位邀请同事一起来参加本学会。

议程


第1天 | 第2天


11日18日(三)


次世代定序以及其他技术相关最新动向

12:30 报到登记

2:00 议长致词

Mark Umbarger, Ph.D., Director, Research and Development, Good Start Genetics

2:05 专题演讲:现在及扩大的著床前基因诊断(PGD)的吸引

Joe_SimpsoJoe Leigh Simpson, M.D., President for Research and Global Programs, March of Dimes Foundation

Where does PGD fit within the broader spectrum of prenatal genetic diagnosis? Sometimes either technology could be chosen, but in other circumstances PGD is uniquely appropriate. As desire increases to limit multiple gestations in ART, PGD to exclude aneuploidy embryos and verify normalcy for euploid embryos will become progressively applicable.

2:35 次世代定序:再生医疗上的扮演角色

Brynn LevyBrynn Levy, Professor, Pathology & Cell Biology at CUMC; Director, Clinical Cytogenetics Laboratory; Co-Director, Division of Personalized Genomic Medicine, College of Physicians and Surgeons, Columbia University Medical Center, and the New York Presbyterian Hospital

The introduction of microarrays into the clinical arena has shifted the way we look at chromosomes to a genomics-based view, offering greater resolution and new diagnostic categories such as UPD. NGS has rapidly become a part of the clinical testing menu, especially in pediatrics. However, its clinical utility in reproductive medicine remains an active area of investigation. This talk will focus on the benefits of the newer cytogenomic technologies that are being utilized for diagnostics in both the preimplantation and fetal stages of development.

3:05 无全基因复制的全染色体诊断

Nathan TreffNathan Treff, Director, Molecular Biology Research, Reproductive Medicine Associates of New Jersey; Associate Professor, Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers-Robert Wood Johnson Medical School; Adjunct Faculty Member, Department of Genetics, Rutgers-The State University of New Jersey

It is well-established that WGA introduces artifacts when applied to human embryo biopsies for comprehensive chromosome screening (CCS). This presentation will describe an alternative strategy involving targeted multiplex qPCR which has undergone the most rigorous validation of any CCS method currently available. Comparison with WGA-based methods will also be presented demonstrating superiority in both preclinical accuracy and in the ability to combine single gene disorders and microdeletions and duplications with CCS.

3:35 展示会场休息与论文海报参观

4:15 单一基因疾病的同时PGD及单一囊胚滋养层切片的非整倍体

Rebekah S. Zimmerman,Rebekah S. Zimmerman, Ph.D., FACMG, Director, Clinical Genetics, Foundation for Embryonic Competence

Many methods of comprehensive chromosome screening (CCS) involve whole genome amplification (WGA), making it difficult to obtain reliable PGD data for a single gene disorder (SGD) in parallel from a single biopsy. This study presents validation and clinical experience with an alternative approach involving multiplex qPCR.

4:45 MALBAC型PGD与PGS并用而同时回避的单一基因疾病与染色体异常的2名健康婴儿安全出生

Xiaoliang Sunney XieXiaoliang Sunney Xie, Ph.D., Mallinckrodt Professor, Chemistry and Chemical Biology, Harvard University

Preimplantation genetic diagnosis (PGD) and preimplantation genomic screening (PGS) help patients to select embryos without monogenic disorders or chromosome abnormalities. Our MALBAC work has proved that a normal embryo can be identified and selected by one-step genome sequencing to eliminate both chromosomal abnormality and point mutations causing monogenic diseases. Furthermore, we report here the first successful MALBAC babies using an improved method with significantly reduced false positives and false negatives.

5:15 新NGS型著床前基因筛检技术的分析学确效

Mark Umbarger, Ph.D., Director, Research and Development, Good Start Genetics

We have developed and implemented a novel NGS-based PGS technology that utilizes a single PCR reaction to amplify repetitive elements on each chromosome while simultaneously attaching sequencing adapters and sample-specific barcodes for multiplexed NGS. In this talk, we will compare and contrast the workflow of our approach to that of other NGS-based PGS approaches, and will outline the results of an analytical validation study that evaluated the accuracy of our approach relative to array comparative genomic hybridization (aCGH).

5:45 展示会大厅欢迎酒会与论文海报参观

6:45 第1天结束


第1天 | 第2天


11月19日(四)

7:30 晨间咖啡


最新检查技术于临床上的应用

7:55议长致词

Peter BennPeter Benn, Professor, Department of Genetics and Genome Sciences, University of Connecticut Health Center


8:00 单一基因疾病的扩大带原者筛检

Peter BennPeter Benn, Professor, Department of Genetics and Genome Sciences, University of Connecticut Health Center

Highly accurate, low-cost methods for the identification of mutations have facilitated identification of carriers of monogenic disorders. This presentation will review current recommendations, discuss the advantages of expanded carrier screening, and consider future prospects.

8:30 卵母细胞粒线体的功能与检查:辅助生育的影响

Emre SeliEmre Seli, M.D., Yale School of Medicine

Mitochondrial function has been associated with oocyte function, with implications for reproductive aging. As such, testing of mitochondrial DNA content or function provides a potential target for assessment of viability of euploid embryos.


9:00 透过生殖细胞系列基因编辑的粒线体疾病感染预防

Alejandro OcampoAlejandro Ocampo, Ph.D., Research Associate, Gene Expression Laboratory - Belmonte, Salk Institute for Biological Studies

We have recently developed a novel strategy towards preventing the germline transmission of mitochondrial diseases through the selective elimination of mutated mtDNA using mitochondria targeted restriction endonucleases or TALENs. We are now evaluating the human safety and efficacy of this technology to prevent the transmission of human mitochondrial diseases.

9:30 单一(胎儿)细胞的恢复与分析:检证CPM及POC的DEPArray型策略

Farideh BischoffFarideh Bischoff, Ph.D., Executive Director, Scientific Affairs at Silicon Biosystems, Inc.

9:45 赞助商简报发表

10:00 展示会场休息与论文海报参观

10:40 PGS及D&C之后的数量性染色体异常

Tanmoy MukherjeeTanmoy Mukherjee, M.D., Assistant Clinical Professor, Obstetrics, Gynecology and Reproductive Science, Mount Sinai Hospital

This review provides an analysis of the most commonly identified numerical chromosome abnormalities following PGS and first trimester D&C samples in an infertile population utilizing ART. Although monosomies comprised >50% of all cytogenetic anomalies identified following PGS, there were very few identified in the post D&C samples. This suggests that while monosomies occur frequently in the IVF population, they commonly do not implant.


胚胎的准备、评价、处理

11:10 议长致词

Catherine RacowskCatherine Racowsky, Professor, Department of Obstetrics, Gynecology & Reproductive Biology, Harvard Medical School; Director, IVF Laboratory, Brigham & Women's Hospital


11:15 胚胎准备的导引与基准:有效基因诊断的胚胎培养、生长、以及切片导引

Michael A. LeeMichael A. Lee, MS, TS, ELD (ABB), Director of Laboratories, Fertility Solutions

This presentation will discuss the basics of state-of-the-art in vitro fertilization and embryo culture and embryology laboratory techniques. We will review laboratory conditions to maximize oocyte fertilization and embryo culture to produce optimum embryos for biopsy, as well as preparation of embryos for biopsy and post-biopsy culture and vitrification of techniques and protocols.

11:45 临床的胚胎评价与选定之缩时影像的现状

Catherine RacowskCatherine Racowsky, Professor, Department of Obstetrics, Gynecology & Reproductive Biology, Harvard Medical School; Director, IVF Laboratory, Brigham & Women's Hospital

It is well established that conventional morphological assessment is by no means a perfect method for predicting viability of human embryos. This talk will assess the utility of time-lapse imaging as an alternative approach for embryo assessment. The benefits and limitations of current time-lapse data will be reviewed and the current status of this imaging technology for selecting the most viable embryo for transfer in clinical IVF will be considered.

12:15 新鲜受精卵与冷冻受精卵的移植相关特别案例

Denny SakkasDenny Sakkas, Ph.D., Scientific Director, Boston IVF

The lecture will discuss the historical differences in outcomes between fresh versus frozen transfers, including how outcomes and, in particular, how live birth weights differ. A rationale of when it is safe to perform a fresh or frozen transfer will also be discussed.

12:45 午餐简报或各自用餐

2:05 为何体外受精会失败?找出单一整倍体胚胎比想像中困难

Jamie GrifoJamie Grifo, M.D., Ph.D., Program Director, New York University Fertility Center; Professor, New York University Langone Medical Center

This talk will focus on chromosomal abnormalities in embryos, the different factors that affect them, and how they contribute to IVF failure. Dr. Grifo will review the published literature as well his own and describe an optimal approach to IVF that limits risk and maximizes benefit.


最佳实务与伦理学

2:30 议长致词

Mache SeibelMache Seibel, M.D., Professor, OB/GYN, University of Massachusetts Medical School; Editor, My Menopause Magazine; Author, The Estrogen Window


2:35 遗传谘询填补复杂基因信息与病患照护之间的差距

Mary Ann W. CampionMary Ann W. Campion, EdD, MS, CGC, Director, Master's Program in Genetic Counseling; Assistant Dean, Graduate Medical Sciences; Assistant Professor, Obstetrics and Gynecology, Boston University School of Medicine

In this domain, ethical issues abound, including barriers to informed consent, duty to warn, associated costs (to the healthcare system and to the patient), and controversial indications for testing.

3:05 次世代定序相关的伦理问题

Eugene PergamentEugene Pergament, M.D., Ph.D., FACMG, Professor, Obstetrics and Gynecology, Northwestern; Attending, Northwestern University Medical School Memorial Hospital

This presentation on the ethical considerations of next-generation sequencing and related technologies will address the current status and future prospects of three critical issues. Does the introduction of these technologies into clinical practice in the United States: 1) Raise new ethical issues concerning preimplantation genetic testing? 2) Facilitate preimplantation genetic therapies? And, if so, 3) What should be the roles and responsibilities of local, state, and federal governments, of various medical societies, and of individual programs providing preimplantation genetic services?

3:35 休息时间


3:45 闭幕座谈会:生殖基因诊断的未来:生殖技术使伦理问题产生缝隙吗

Moderator:

Mache SeibelMache Seibel, M.D., Professor, OB/GYN, University of Massachusetts Medical School; Editor, My Menopause Magazine; Author, The Estrogen Window


Panelists:

Rebekah S. Zimmerman,Rebekah S. Zimmerman, Ph.D., FACMG, Director, Clinical Genetics, Foundation for Embryonic Competence


Denny SakkasDenny Sakkas, Ph.D., Scientific Director, Boston IVF


Michael A. LeeMichael A. Lee, MS, TS, ELD (ABB), Director of Laboratories, Fertility Solutions


Nicholas CollinsNicholas Collins, MS, CGC, Manager, Reproductive Health Specialists, Counsyl



Benjamin Franklin said, "An ounce of prevention is worth a pound of cure." Reproductive genetic diagnostic tools and tests are evolving at the speed of light. Are we able to keep up with the practical and ethical implications of this technology? Join this panel of experts who will grapple with this question and others such as:

  • Where is this technology going? What is the next evolutionary step?
  • What are the biggest challenges scientists, clinicians, and counselors face with diagnostic tools - and the information we gather - today?
  • Where do our responsibilities lie in the treatment of embryos before and after treatment?
 

4:30 学会闭幕


第1天 | 第2天

* 活动内容有可能不事先告知作更动及调整。


建议参加对象:

  • 生殖内分泌学者
  • 胚胎学者
  • 细胞遗传学者
  • 不孕治疗专业医师
 
  • 母体胎儿医师
  • 妇产科医师
  • 遗传谘询师
  • 护士
 

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