Second Annual Reproductive Genetic Diagnostics
- 제2회 생식 유전자 진단 컨퍼런스 -
개최: 미국, 케임브리지
일정 : 2016년 12월 1-2일

아젠다 최종판 완성!

불임증 및 임신 실패를 경험한 커플은 현재 많은 분자진단 방법을 이용하여 배의 건강 상태 및 자신의 불임을 판단할 수 있습니다. 본 컨퍼런스는 착상전 진단과 스크리닝 기술의 최신 동향을 검토하고, 모자이크 현상의 평가, 배이식의 결정, CCS 발전의 응용 동향 등을 다룹니다. 또한 생검 및 유리화가 배 발생에 미칠 수 있는 잠재적 영향에 대해 개발되고 있는 저침습성 및 비침습성 PGD의 가능성에 대해 검증합니다. 얼마나 많이, 얼마나 자주 검사를 시행해야 하는가 등 도너 난자를 위한 PGD에 관한 디스커션도 예정되어 있습니다. 또한 CRISPR의 최신 동향도 다루며, 현재의 연구 동향 및 능력과 함께 이 기술의 향후 사용 가능성 여부도 검토합니다. 올해 컨퍼런스에서는 새롭게 불임 바이오마커를 발견하기 위한 분자진단에도 주목합니다.

아젠다

첫째날 | 둘째날

12월 1일(목)

1:00 리셉션


모자이크 현상

2:00 의장 인사

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

2:05 조기 개발을 위한 에피제네틱 조절의 메커니즘

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 착상전 유전자 스크리닝에서 배 모자이크의 문제

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 및 PGS의 최신 동향과 실용적 응용

3:05 다발 연속적 임신성 융모성 질환(기태임신)을 앓는 환자에 대한 단일 배이식을 허가하기 위한 NLRP7에서 NGS의 새로운 응용

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 전시회장 휴식시간, 포스터 발표 관람

4:15 PGS 및 NGS에 이은 최적의 정배수 배이식 전략:무작위화 대조 임상시험

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 종합적 염색체 스크리닝의 발전 동향

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 스폰서 제공 프레젠테이션

6:00 전시회장 네트워킹 리셉션, 포스터 발표 관람

7:00 첫째날 종료

첫째날 | 둘째날

12월 2일(금)


7:30 아침식사 및 좌담회

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?
 

저침습성 및 비침습성 진단 전망

8:25 의장 인사

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

8:30 착상전 유전자 스크리닝을 시행하기 위한 분화 배반포로부터의 포배강액 사용 가능성

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 개별 난모세포로부터 코로나 세포의 RNA 시퀀싱에 의해 뱕혀지는 정배수 난모세포의 능력과 신생아 출생에 관련된 전사 산물 및 경로

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 IVF를 위한 배우자 및 배의 비침습성 검사

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 스폰서 제공 프레젠테이션

10:30 전시회장 휴식시간, 포스터 발표 관람


검사가 배 발생에 미치는 영향

11:00 의장 인사

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 생검이 착상전 유전자 진단중 인간 배 발생 능력에 미치는 영향

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.


불임증 및 착상 실패를 위한 분자진단

11:35 인간의 생식 능력과 불임 상태의 유전학적 기초 해독

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 정자 RNA:남성의 건강 상태와 건강한 자녀의 출생에 관한 바이오마커

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 체외수정 결과의 바이오마커로서의 미토콘드리아 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 런치 프레젠테이션 또는 개별 점심식사


PGD 초월:캐리어 스크리닝과 POC 검사

2:15 의장 인사

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 확대되는 유전자 기술 시대의 캐리어 스크리닝

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 태아세포배양에 실패한 제품과 정상적인 핵형 샘플의 어레이-CGH에 의해 밝혀진 세포 게놈 이상 스펙트럼

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.


유전자 치료:연구 및 사용 가능성

3:20 패널 디스커션:생식 계열 유전자 치료에서 착상전 유전자 진단의 역할

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 컨퍼런스 종료


첫째날 | 둘째날


* 주최측 사정에 따라 사전 예고없이 프로그램이 변경될 수 있습니다.





참가 대상자

  • 생식 내분비과의
  • 발생학자(Embryologists)
  • 세포 유전학자
  • 불임치료 전문의
 
  • 남성 의료/여성 의료
  • 산과/산부인과의
  • 유전 카운셀러
  • 남성병학자(Andrologists)
 

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