Reproductive Genetic Diagnostics 2015 - 生殖基因診斷學會 2015年 -
2015年11月18 - 19日
美國,馬薩諸塞州,波士頓,Omni Parker House Hotel

快速發展的技術正改變生殖基因診斷和篩檢的實施方法。但是,這些新技術的差異和極限、優點等,尚存在著一些不明確的部分。Cambridge Healthtech Institute首次舉辦的Reproductive Genetic Diagnostics學會,將介紹次世代定序(NGS)與定量PCR等的最新技術,並就帶原者篩檢、著床前診斷、以及受孕產物(POC)檢查的優點與應用動向。

隨著這些技術的普及,我們必須理解各個技術最被應用在哪個領域、及個別的能力,並確保在分析學上及臨床上為有效的。而且,在技術發展比實務還快速的情況下,須謹慎看待做為測序對象的基因領域、診斷上所需的測序多樣性之內容與量等,這些技術的應用所造成的倫理影響。本學會集結臨床醫師、研究人員、開發人員、業界領袖們,針對這些議題共同討論。我們歡迎各位邀請同事一起來參加本學會。

議程


第1天 | 第2天


11日18日(三)


次世代定序以及其他技術相關最新動向

12:30 報到登記

2:00 議長致詞

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

2:05 專題演講:現在及擴大的著床前基因診斷(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:再生醫療上的扮演角色

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 無全基因複製的全染色體診斷

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 展示會場休息與論文海報參觀

4:15 單一基因疾病的同時PGD及單一囊胚滋養層切片的非整倍體

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與PGS併用而同時迴避的單一基因疾病與染色體異常的2名健康嬰兒安全出生

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型著床前基因篩檢技術的分析學確效

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 展示會大廳歡迎酒會與論文海報參觀

6:45 第1天結束


第1天 | 第2天


11月19日(四)

7:30 晨間咖啡


最新檢查技術於臨床上的應用

7:55議長致詞

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


8:00 單一基因疾病的擴大帶原者篩檢

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 卵母細胞粒線體的功能與檢查:輔助生育的影響

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 透過生殖細胞系列基因編輯的粒線體疾病感染預防

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 單一(胎兒)細胞的恢復與分析:檢證CPM及POC的DEPArray型策略

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

9:45 贊助商簡報發表

10:00 展示會場休息與論文海報參觀

10:40 PGS及D&C之後的數量性染色體異常

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.


胚胎的準備、評價、處理

11:10 議長致詞

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


11:15 胚胎準備的導引與基準:有效基因診斷的胚胎培養、生長、以及切片導引

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 臨床的胚胎評價與選定之縮時影像的現狀

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 新鮮受精卵與冷凍受精卵的移植相關特別案例

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 午餐簡報或各自用餐

2:05 為何體外受精會失敗?找出單一整倍體胚胎比想像中困難

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.


最佳實務與倫理學

2:30 議長致詞

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


2:35 遺傳諮詢填補複雜基因資訊與病患照護之間的差距

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 次世代定序相關的倫理問題

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 休息時間


3:45 閉幕座談會:生殖基因診斷的未來:生殖技術使倫理問題產生縫隙嗎

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 學會閉幕


第1天 | 第2天

* 活動內容有可能不事先告知作更動及調整。


建議參加對象:

  • 生殖內分泌學者
  • 胚胎學者
  • 細胞遺傳學者
  • 不孕治療專業醫師
 
  • 母體胎兒醫師
  • 婦產科醫師
  • 遺傳諮詢師
  • 護士
 

Choose your language
Chinese
Japanese
Korean
English
PNDX Attend PIDX

Premier Sponsors

Silicon Biosystems 

» 贊助商

» 媒體合作夥伴  


Catalog

產業會議彙總曆
免費電子郵件通知服務
免費電子郵件通知服務