Reproductive Genetic Diagnostics 2015 - 生殖遺伝子診断学会 2015年 -
2015年11月18 - 19日
米国、マサチューセッツ州、ボストン、オムニ パーカー ハウス ホテル

急速に発展する技術により生殖遺伝子診断やスクリーニングの実施方法が変わろうとしています。しかし、これらの新しい技術の違いや限界、利点は一部不明確なままとなっています。Cambridge Healthtech Instituteが初めて開催する学会Reproductive Genetic Diagnosticsは、次世代シークエンシング(NGS)と定量的PCRなどの最新技術を紹介しながら、保因者スクリーニング、着床前診断、および受胎産物(POC)検査のメリットと応用動向について検証します。

これらの技術が普及するにつれ、我々は各技術が最も応用される分野はどこなのか、それぞれの能力を理解し、それらが分析学的および臨床的に有効であることを確証しなければなりません。さらに、技術が実務より早いペースで進む場合、シークエンシングの対象となるゲノム領域、診断に必要なシークエンシングの多様性の内容と量など、これらの技術の応用による倫理的影響に慎重に目を向けなければなりません。当学会では、臨床医、研究者、開発業者、業界リーダーらが集結し、これらのトピックについて話し合います。ぜひ、お誘いあわせの上、当学会にご参加ください。

アジェンダ


1日目 | 2日目


11月18日(水)


次世代シークエンシングおよびその他のテクノロジーに関する最新動向

12:30 登録手続き

2:00 議長の発言

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

2:05 基調講演:現在および拡大する着床前遺伝子診断(PGD)の誘引

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 次世代シークエンシング:再生医療におけるその役割

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 全ゲノム増幅のない全染色体診断

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展示会場での休憩、ポスター発表の見学

4:15 単一遺伝子疾患のための同時PGDおよび単一栄養外胚葉生検における異数性

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に基づくPGDとPGSの併用により同時に回避された単一遺伝子疾患と染色体異常をもつ2人の健康な乳児の生児出生

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 新規NGSに基づく着床前遺伝子スクリーニング技術の分析学的バリデーション

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展示会ホールでの歓迎レセプション、ポスター発表の見学

6:45 1日目終了


1日目 | 2日目


11月19日(木)

7:30 モーニングコーヒー


最新検査技術の臨床における応用

7:55議長の発言

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


8:00 単一遺伝子疾患のための拡大保因者スクリーニング

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 卵母細胞ミトコンドリアの機能と検査:生殖補助における影響

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 生殖細胞系列のゲノム編集を通じたミトコンドリア病の感染予防

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 単一(胎児)細胞の回復と分析:CPMおよびPOCを検証するためのDEPArrayに基づく戦略

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

9:45スポンサー提供のプレゼンテーション

10:00展示会場での休憩、ポスター発表の見学

10:40 PGSおよびD&C後の10:40数的染色体異常

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.


胚の準備、評価、処理

11:10 議長の発言

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


11:15 胚の準備のためのガイドラインと基準:効果的遺伝子診断のため胚培養、増殖、および生検ガイドライン

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IVFにおける胚の評価と選定のための経時的画像の現状

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 新鮮な受精卵と凍結受精卵の移植に関する興味深い事例

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 プレゼンテーションを聞きながらの昼食会または各自で昼食

2:05 なぜ体外受精は失敗するのか。単一正倍数胚を見つけるのは思ったよりも難しい。

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.


ベストプラクティスと倫理学

2:30議長の発言

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


2:35 複雑な遺伝情報と患者ケアとの間のギャップを埋める遺伝子カウンセリング

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 次世代シークエンシングを取り巻く倫理的問題

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 休憩


3:45 閉幕パネル:生殖遺伝子診断の将来:生殖技術は倫理問題にひずみを生じさせるのか

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 学会閉幕


1日目 | 2日目

* 不測の事態により、事前の予告なしにプログラムが変更される場合があります。


参加をお勧めする方々:

  • 生殖内分泌学者
  • エンブリオロジスト
  • 細胞遺伝学者
  • 不妊治療専門医
 
  • 母体胎児医学
  • 産婦人科医
  • 遺伝子カウンセラー
  • 看護師
 

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