Second Annual Reproductive Genetic Diagnostics
-第2回年次学会:生殖遺伝子診断-
開催地:米国マサチューセッツ州ケンブリッジ、Boston Marriott Cambridge
開催日:2016年12月1 - 2日

アジェンダの最終版が完成しました

不妊症や妊娠の失敗を経験するカップルは今や、多くの分子診断方法を利用して、胚の健康状態や自身の不妊を判断することができます。当学会は、着床前診断とスクリーニング技術の最新動向を探り、モザイク現象の評価、胚移植の決定、CCSにおける発展における応用動向などを扱います。また、生検やガラス化が胚発生に及ぼしうる潜在的影響に対して開発されている、低侵襲性および非侵襲性PGDの可能性についても検証します。どれほど多くの、あるいはどれほどの頻度で検査を実施すべきかなど、ドナー卵子のためのPGDに関するディスカッションも予定されています。また、CRISPRの最新動向も扱い、現在の研究動向と能力とともに、この技術が将来使用されうるか否かを考えます。今年の学会では新たに、不妊バイオマーカーを見つけるための分子診断にも注目します。

アジェンダ

1日目 | 2日目

12月1日(木)

1:00 レセプション


モザイク現象

2:00 議長の挨拶

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

2:05 早期開発のためのエピジェネティック調節のメカニズム

Alex_MeissnerAlexander Meissner, Ph.D., Professor, Stem Cell & Regenerative Biology, Harvard University

In mammals, cytosine methylation is predominantly restricted to CpG dinucleotides and stably distributed across the genome, with local, cell-type-specific regulation directed by DNA binding factors. This comparatively static landscape is in marked contrast with the events of fertilization, where most of the genomic methylation is erased. We will present the latest advances in our understanding of this critical window in mammalian development.

2:35 着床前遺伝子スクリーニングにおける胚モザイクの課題

Jason_FranasiakJason Franasiak, M.D., FACOG, Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Reproductive Medicine Associates of New Jersey and Thomas Jefferson University

The very nature of embryonic mosaicism presents diagnostic, analytical, and clinical challenges. Understanding distribution of chromosome compliments throughout the embryo, the complex bioinformatics involved in characterizing mosaicism in a single embryonic biopsy, and the varied clinical outcomes of embryos designated as mosaic are fundamental to implementing this in clinical care as it pertains to preimplantation genetic screening.


PGDおよびPGSにおける最新動向と実践的応用

3:05 多発連続的妊娠性絨毛性疾患(奇胎妊娠)を患う患者への単一胚移植を許可するためのNLRP7におけるNGSの新たな応用

Scott_SillsE. Scott Sills, M.D., Ph.D., Medical Director, Reproductive Research Office, Center for Advanced Genetics

Gestational trophoblastic disease (molar pregnancy) occurs in about 1 of 1000 conceptions and is thought to result from fertilization of an abnormal oocyte which leads to an embryo with an irregular chromosomal constituency. Although the etiology of the condition remains incompletely understood, recent research has implicated a specific mutation (NLRP7) identified in some women with molar pregnancy. Here, we present our experience with genetic testing of both parents and blastocysts derived from IVF in a couple with five consecutive molar pregnancies. Data from PGS & gene sequencing are discussed to contribute new information concerning the genetics of molar pregnancy.

3:35 展示会ホールでの休憩、ポスター発表見学

4:15 PGSおよびNGSに続く最適な正倍数の胚移植戦略:無作為化対照臨床試験

Alison_CoatesAlison Coates, Embryology Laboratory Director, Oregon Reproductive Medicine

The two strategies currently used in clinical practice are frozen thawed or fresh transfer. The frozen thawed strategy involves cryopreservation of all blastocysts in the cohort to await PGS results in preparation for a frozen embryo transfer. The fresh strategy involves biopsy of only day 5 blastocysts and rush testing overnight for a fresh embryo transfer of euploid embryos on day 6. There are benefits and challenges to each approach.

4:45 包括的染色体スクリーニングの発展動向

Nathan_TreffNathan R. Treff, Ph.D., Director, Molecular Biology Research, Reproductive Medicine Associates of New Jersey

Comprehensive chromosome screening (CCS) for preimplantation embryonic aneuploidy has now demonstrated the ability to improve clinical outcomes for patients with infertility in multiple randomized controlled trials. Platforms for testing include SNP array, array CGH, qPCR, and next generation sequencing (NGS). Prior to the use of these various downstream quantitation methods is the critical step of DNA amplification from limited amounts of starting material obtained from an embryo biopsy. One strategy, whole genome amplification, introduces artefacts often not overcome by highly parallel methods of quantitation and can be over interpreted as mosaicism and segmental aneuploidy. Targeted methods of amplification reduce technical artefacts and provide proven accuracy and clinical predictive values in rigorous preclinical trials. These and other aspects of contemporary CCS methodologies will be discussed.

5:15 スポンサー提供のプレゼンテーション

6:00 展示会ホールでのネットワーキングレセプション、ポスター発表見学

7:00 第1日の終了

1日目 | 2日目

12月2日(金)


7:30 朝食および座談会

Should we be testing all donor egg derived embryos for aneuploidy before cryopreservation and subsequent transfer?

Alison Coates, Embryology Laboratory Director, Oregon Reproductive Medicine

  • Are pregnancy outcomes improved following PGS on donor eggs?
  • What are the clinical obstacles to making this regular practice?
  • Are there ethical concerns on part of the donor and/or the couple?

Invasive and non-invasive methods of assessing embryo viability: which is better?

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

  • Does biopsy harm the embryo?
  • What information can biopsy give us and how accurate is it?
  • What non-invasive techniques will be available in the future and can they supersede PGS?

Carrier screening in reproductive health

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

  • What are the major barriers to broader adoption of carrier screening and how might these barriers be eliminated/reduced?
  • What should be the overall driving force for defining test content-- total number of genes, maximal identification of at-risk couples, disorder severity?
  • As we move to the future, what can be done to provide folks with information about their carrier status at the earliest possible time, thereby maximizing their reproductive options?
 

低侵襲性および非侵襲性診断の展望

8:25 議長の挨拶

E. Scott Sills, M.D., Ph.D., Medical Director, Reproductive Research Office, Center for Advanced Genetics

8:30 着床前遺伝子スクリーニングを実施するための分化胚盤胞からの胞胚腔液の使用可能性

Kyle Tobler, M.D., Assistant Professor, Faculty, Reproductive Endocrinology and Infertility, Obstetrics and Gynecology, Womack Army Medical Center, Fort Bragg North Carolina

Blastocoel fluid is potentially under-utilized. This fluid may prove useful for further analysis of blastocysts as part of PGS and PGD, which would allow the genetic analysis to be completed without conducting an embryo biopsy. There are few and conflicting reports on the utility of blastocoel fluid for this purpose. This presentation will review the past research conducted on blastocoel fluid and possible future directions in the application of blastocoel fluid analysis to PGS and PGD.

9:00 個々の卵母細胞からのコロナ細胞のRNAシーケンシングにより明らかとなる正倍数の卵母細胞の能力と生児出生に関連した転写産物および経路

Mandy_Katz-JaffeMandy Katz-Jaffe, Ph.D., Scientific and Genetics Director, Colorado Center for Reproductive Medicine

Corona cells surround the oocyte and maintain a close relationship through transzonal processes and gap junctions, making them an ideal source for the assessment of oocyte competence. In this study, individual corona cell transcriptomes were successfully generated using RNA-sequencing and reproductive outcomes analyzed following a frozen euploid blastocyst transfer. Numerous enriched pathways were associated with live birth including Wnt and MAP kinase signaling, highlighting novel non-invasive biomarkers of embryo viability.

9:30 IVFのための配偶子および胚の非侵襲性検査

Denny_SakkasDenny Sakkas, Ph.D., Scientific Director, Boston IVF

The non-invasive assessment of preimplantation embryos has been largely limited to the use of morphology and has become the primary tool of the embryologist for screening gamete and embryo quality. The advent of "Omics" technologies has allowed us to broaden our assessment of gametes and embryos. This lecture will discuss how we can now assess the media surrounding the embryo using both proteomic or metabolomics based analysis. In addition, the use of advanced imaging systems that allow us to obtain relevant information linked to gamete and embryo quality will be discussed.

10:00 スポンサー提供のプレゼンテーション

10:30 展示会ホールでの休憩、ポスター発表見学


検査が杯発生に及ぼす影響

11:00 議長の挨拶

Stephen A. Krawetz, BSc, Ph.D., Associate Director, C.S. Mott Center for Human Growth and Development, Charlotte B. Failing Professor of Fetal Therapy and Diagnosis, Ob/Gyn & Molecular Medicine & Genetics, Wayne State University School of Medicine

11:05 生検が着床前遺伝子診断中のヒト胚発生能力に及ぼす影響

Danilo_CimadomoDanilo Cimadomo, MSc, Ph.D. Student, GENERA Center for Reproductive Medicine, Clinica Valle Giulia

The biopsy strategy represents a critical aspect not to affect embryos' intrinsic possibilities to result in a healthy full-term birth during PGD/PGD-A cycles. Single/double blastomere biopsy at the cleavage stage has been demonstrated detrimental for embryo viability. For polar body biopsy, no class I data have been produced to properly assess its value. Blastocyst stage biopsy has been instead established as the safest approach, whose implementation is indeed increasing worldwide.


不妊症および着床不全のための分子診断

11:35 ヒトの生殖能力と不妊状態の遺伝学的基礎の解読

Piraye_BeimPiraye Yurttas Beim, Ph.D., Founder, CEO, Celmatix

Over one-quarter of genes in the human genome have some impact on a woman's fertility. For the past seven years, Celmatix has conducted research to vet, validate and discover novel genetic biomarkers that will dramatically impact the diagnosis and treatment of infertility. Having this genetic lens on fertility goes beyond a woman's ability to conceive; a woman's reproductive health impacts every other aspect of her health including cardiovascular disease, osteoporosis, and cancer risk.

12:05 精子RNA:男性の健康状態と健康な子供の出生に関するバイオマーカー

Stephen_KrawetzStephen A. Krawetz, BSc, Ph.D., Associate Director, C.S. Mott Center for Human Growth and Development, Charlotte B. Failing Professor of Fetal Therapy and Diagnosis, Ob/Gyn & Molecular Medicine & Genetics, Wayne State University School of Medicine

The utility of sperm RNA elements to assess the male contribution as a function of the idiopathic infertile couple is presented. Derived from sperm RNAs, these elements can identify those idiopathic infertile males who are likely to father a healthy child without the use of ART and those who would benefit from ART. Perhaps an objective assay to assess the impact of the dad's contribution for the idiopathic infertile couple is foreshadowed.

12:35 体外受精結果のバイオマーカーとしてのミトコンドリアDNA

Emre_SeliEmre Seli, M.D., Professor, Obstetrics, Gynecology, and Reproductive Sciences, Yale School of Medicine

Mitochondrial function has been associated with oocyte function and embryo competence, 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.

1:05 ランチプレゼンテーションまたは各自での昼食


PGDを超えて:キャリアスクリーニングとPOC検査

2:15 議長の挨拶

Jason Franasiak, M.D., FACOG, Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Reproductive Medicine Associates of New Jersey and Thomas Jefferson University

2:20 拡大する遺伝子技術の時代におけるキャリアスクリーニング

Aishwarya_ArjunanAishwarya Arjunan, Faculty, Center for Genetic Medicine, Northwestern University Feinburg School of Medicine

The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity. Here, we explore differences in carrier detection rates between genotyping and NGS in a primarily Jewish population.

2:50 胎芽細胞培養に失敗した製品と正常な核型サンプルにおけるアレイ-CGHにより明らかとなった細胞ゲノム異常スペクトル

Peining_LiPeining Li, Ph.D., Associate Professor, Genetics, Yale School of Medicine

Array comparative genomic hybridization (aCGH) analysis was performed on product of conception culture failure (POC-CF) and normal karyotype (POC-NK) samples. Compiled results from our study and reported case series demonstrated an abnormality detection rate of 35% for chromosomal abnormalities in POC-CF, 3.7% for pathogenic CNVs in POC-CF, and 4.6% for pathogenic CNVs in POC-NK. Further Ingenuity Pathway Analysis on gene content from the pathogenic CNVs revealed gene networks causing miscarriages.


遺伝子治療:研究および使用可能性

3:20 パネルディスカッション:生殖系列遺伝子治療における着床前遺伝子診断の役割

Moderator:
Eugene_PergamentEugene Pergament, M.D., Ph.D., FACMG, Professor, Obstetrics and Gynecology, Northwestern; Attending, Northwestern University Medical School Memorial Hospital


Panelists: Jason Franasiak, M.D., FACOG, Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Reproductive Medicine Associates of New Jersey and Thomas Jefferson University
Peter Benn, Professor, Genetics and Genome Sciences, University of Connecticut Health Center

Germline gene therapy has now become a technical reality and the field of preimplantation genetic diagnosis will be directly involved and responsible. Unresolved are issues directly related to the ethical, moral, social and economic consequences of the application of germline gene therapy to human gametes and preimplantation embryos. Objective insights into the positive and negative implications of germline gene therapy are the focus of this panel discussion.

4:20 Reproductive Genetic Diagnostics学会の終了


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。





参加をおすすめする方々

  • 生殖内分泌科医
  • エンブリオロジスト
  • 細胞遺伝学者
  • 不妊治療専門医
 
  • 男性医療/女性医療
  • 産科/産婦人科医
  • 遺伝カウンセラー
  • アンドロロジスト
 

Choose your language
Traditional Chinese
Simplified Chinese
Korean
English


スポンサー

QIAGEN

Sequenom

SeraCare


» メディアパートナーを見る

カタログ(PDF)
イベントカレンダー
医療機器関連の国際会議