Reproductive Genetic Diagnostics 2015 - 생식 유전자 진단 컨퍼런스 2015 -
2015년 11월 18 - 19일
미국 매사추세츠주 보스턴, Omni Parker House Hotel

급속히 발전하는 기술에 의해 생식 유전자 진단 및 스크리닝 방법이 변화하고 있습니다. 그러나 이 새로운 기술의 차이와 한계, 이점은 일부 불명확한 상태입니다. Cambridge Healthtech Institute가 처음으로 개최하는 컨퍼런스 Reproductive Genetic Diagnostics는 차세대 시퀀싱(NGS)과 정량적 PCR 등의 최신 기술을 소개하며, 보인자(carrier) 스크리닝, 착상전 진단 및 수태 산물(POC) 검사의 이점과 응용 동향에 대해 검증합니다.

이와 같은 기술이 보급됨에 따라 각 기술이 가장 많이 응용되는 분야와 각각의 능력을 이해하고, 분석학 및 임상적으로 유효함을 확증해야 합니다. 또한 기술이 실무보다 빠른 속도로 진행될 경우, 시퀀싱의 대상이 되는 게놈 영역, 진단에 필요한 시퀀싱의 다양성 내용과 양 등 이 기술의 응용에 의한 윤리적 영향에 주목해야 합니다. 본 컨퍼런스에서는 임상의, 연구자, 개발업체, 업계 리더 등이 참가하여 이 토픽에 대해 논의합니다.

아젠다


첫째날 | 둘째날


11월 18일(수)


차세대 시퀀싱 및 기타 테크놀러지에 관한 최신 동향

12:30 등록

2:00 의장 발언

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

2:05 기조 강연:현재 및 확대되는 착상전 유전자 진단(PGD)의 유인

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 차세대 시퀀싱:생식의학에서의 역할

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 전게놈증폭 없는 전염색체 진단

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 전시회장 휴식시간, 포스터 발표 관람

4:15 단일유전자질환을 위한 동시 PGD 및 단일 영양외배엽 생검의 이수성

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 기반 PGD와 PGS의 병용에 의해 동시에 회피된 단일유전자질환과 염색체 이상을 가진 2명의 건강한 영아 출산

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 신규 NGS 기반 착상전 유전자 스크리닝 기술의 분석학적 밸리데이션

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 전시회장 환영 리셉션, 포스터 발표 관람

6:45 첫째날 종료


첫째날 | 둘째날


11월 19일(목)

7:30 모닝커피


최신 검사 기술의 임상 응용

7:55의장 발언

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


8:00 단일유전자질환을 위한 확대 보인자 스크리닝

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 난모세포 미토콘드리아의 기능과 검사:생식 보조에서의 영향

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 생식세포계열 게놈 편집을 통한 미토콘드리아병 감염 예방

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 단일(태아) 세포의 회복 및 분석:CPM 및 POC를 검증하기 위한 DEPArray 기반 전략

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

9:45 스폰서 제공 프레젠테이션

10:00 전시회장 휴식시간, 포스터 발표 관람

10:40 PGS 및 D&C 후 염색체의 수적 이상

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.


배의 준비, 평가, 처리

11:10 의장 발언

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


11:15 배의 준비를 위한 가이드라인과 기준:효과적 유전자 진단을 위한 배의 배양, 증식 및 생검 가이드라인

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 임상 IVF에서 배의 평가와 선정을 위한 타임 랩스 영상 현황

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 신선한 수정란과 동결 수정란의 이식에 관한 흥미로운 사례

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 런천 프레젠테이션 또는 개별 점심식사

2:05 왜 체외수정은 실패하는가? 단일 정배수 배를 찾는 것은 생각보다 어렵다.

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.


베스트 프랙티스와 윤리학

2:30의장 발언

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


2:35 복잡한 유전 정보와 환자 케어 사이의 갭을 메우는 유전자 카운셀링

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 차세대 시퀀싱을 둘러싼 윤리적 문제

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 휴식시간


3:45 클로징 패널:생식 유전자 진단의 미래:생식 기술은 윤리 문제를 발생시키는가?

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 컨퍼런스 폐막


첫째날 | 둘째날

* 주최측 사정에 따라 사전 예고없이 프로그램이 변경될 수 있습니다.


참가 대상자:

  • 생식 내분비학자
  • 발생학자(Embryologists)
  • 세포유전학자
  • 불임치료 전문의
 
  • 모성태아의학
  • 산부인과의
  • 유전자 카운셀러
  • 간호사
 

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