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How NGS Will Revolutionize Reproductive Diagnostics: November Meeting, Boston MA, Volume 2 (Volume Two: Latest in Genomics Methodologies for Therapeutics: Gene Editing, NGS and BioInformatics, Simulations and the Genome Ontology), Part 1: Next Generation Sequencing (NGS)
Reporter: Stephen J. Williams, Ph.D. Reproductive Genetic Diagnostics Advances in Carrier Screening, Preimplantation Diagnostics, and POC Testing
November 18-19, 2015 | Boston, MA healthtech.com/reproductive-genetic-diagnosticsMount Sinai Hospital’s Dr. Tanmoy Mukherjee to Present at Reproductive Genetic Diagnostics ConferenceNumerical Chromosomal Abnormalities after PGS and D&C Tanmoy 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.
In a CHI podcast, Dr. Mukherjee discusses the current challenges facing reproductive specialists in regards to genetic diagnosis of recurrent pregnancy loss, as well as how NGS is affecting this type of testing > Listen to Podcast
Keynote Presentation: Current and Expanding Invitations for Preimplantation Genetic Diagnosis (PGD) Joe Leigh Simpson, MD, President for Research and Global Programs, March of Dimes Foundation
Next-Generation Sequencing: Its Role in Reproductive Medicine Brynn Levy, Professor of Pathology & Cell Biology, 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
CCS without WGA Nathan 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
Concurrent PGD for Single Gene Disorders and Aneuploidy on a Single Trophectoderm Biopsy Rebekah S. Zimmerman, Ph.D., FACMG, Director, Clinical Genetics, Foundation for Embryonic Competence
Live Birth of Two Healthy Babies with Monogenic Diseases and Chromosome Abnormality Simultaneously Avoided by MALBAC-based Combined PGD and PGS Xiaoliang Sunney Xie, Ph.D., Mallinckrodt Professor of Chemistry and Chemical Biology, Department of Chemistry and Chemical Biology, Harvard University
Analytical Validation of a Novel NGS-Based Pre-implantation Genetic Screening Technology Mark Umbarger, Ph.D., Director, Research and Development, Good Start Genetics
CLINICAL APPLICATIONS FOR ADVANCED TESTING TECHNOLOGIES
Expanded Carrier Screening for Monogenic Disorders Peter Benn, Professor, Department of Genetics and Genome Sciences, University of Connecticut Health Center
Oocyte Mitochondrial Function and Testing: Implications for Assisted Reproduction Emre Seli, MD, Yale School of Medicine
Preventing the Transmission of Mitochondrial Diseases through Germline Genome Editing Alejandro Ocampo, Ph.D., Research Associate, Gene Expression Laboratory – Belmonte, Salk Institute for Biological Studies
Recovery and Analysis of Single (Fetal) Cells: DEPArray Based Strategy to Examine CPM and POC Farideh Bischoff, Ph.D., Executive Director, Scientific Affairs, Silicon Biosystems, Inc.
Numerical Chromosomal Abnormalities after PGS and D&C Tanmoy Mukherjee, M.D., Assistant Clinical Professor, Obstetrics, Gynecology and Reproductive Science, Mount Sinai Hospital
EMBRYO PREPARATION, ASSESSMENT, AND TREATMENT
Guidelines and Standards for Embryo Preparation: Embryo Culture, Growth and Biopsy Guidelines for Successful Genetic Diagnosis Michael A. Lee, MS, TS, ELD (ABB), Director, Laboratories, Fertility Solutions
Current Status of Time-Lapse Imaging for Embryo Assessment and Selection in Clinical IVF Catherine Racowsky, Professor, Department of Obstetrics, Gynecology & Reproductive Biology, Harvard Medical School; Director, IVF Laboratory, Brigham & Women’s Hospital
The Curious Case of Fresh versus Frozen Transfer Denny Sakkas, Ph.D., Scientific Director, Boston IVF
Why Does IVF Fail? Finding a Single Euploid Embryo is Harder than You Think Jamie Grifo, M.D., Ph.D., Program Director, New York University Fertility Center; Professor, New York University Langone Medical Center
BEST PRACTICES AND ETHICS
Genetic Counseling Bridges the Gap between Complex Genetic Information and Patient Care MaryAnn W. Campion, Ed.D., MS, CGC; Director, Master’s Program in Genetic Counseling; Assistant Dean, Graduate Medical Sciences; Assistant Professor, Obstetrics and Gynecology, Boston University School of Medicine
Ethical Issues of Next-Generation Sequencing and Beyond Eugene Pergament, M.D., Ph.D., FACMG, Professor, Obstetrics and Gynecology, Northwestern; Attending, Northwestern University Medical School Memorial Hospital
Closing Panel: The Future of Reproductive Genetic Diagnostics: Is Reproductive Technology Straining the Seams of Ethics? Moderator:
Mache Seibel, M.D., Professor, OB/GYN, University of Massachusetts Medical School; Editor, My Menopause Magazine; Author, The Estrogen Window
Panelists:
Rebekah S. Zimmerman, Ph.D., FACMG, Director, Clinical Genetics, Foundation for Embryonic Competence
Denny Sakkas, Ph.D., Scientific Director, Boston IVF
Michael A. Lee, MS, TS, ELD (ABB), Director of Laboratories, Fertility Solutions
Nicholas Collins, MS, CGC, Manager, Reproductive Health Specialists, Counsyl
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