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Human Reproductive Genetics - 1st Edition - ISBN: 9780128165614, 9780128167496

Human Reproductive Genetics

1st Edition

Emerging Technologies and Clinical Applications

Editors: Juan Garcia-Velasco Emre Seli
Paperback ISBN: 9780128165614
eBook ISBN: 9780128167496
Imprint: Academic Press
Published Date: 24th April 2020
Page Count: 340
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Human Reproductive Genetics: Emerging Technologies and Clinical Applications presents a great reference for clinicians and researchers in reproductive medicine. Part I includes a brief background of genetics and epigenetics, probability of disease, and the different techniques that are being used today for analysis and genetic counseling. Part II focuses on the analysis of the embryo, current controversies and future concepts. Part III comprises different clinical scenarios that clinicians frequently face in practice. The increasing amount of genetic tests available and the growing information that patients handle makes this section a relevant part of the fertility treatment discussion.

Finally, Part IV concludes with the psychological aspects of genetic counseling and the role of counselor and bioethics in human reproduction.

Key Features

  • Provides an essential reference for clinicians involved in reproductive medicine
  • Builds foundational knowledge on new genetic tests coming into the clinical scenario for physicians involved with patients
  • Assembles critically evaluated chapters that cover basic concepts of genetics and epigenetics and the techniques involved, including preimplantation genetic testing, controversies, and more


Active researchers, basic and translational scientists, clinicians, and students in the areas of reproductive medicine, gynecology, obstetrics, andrology, embryology, endocrinology human genetics, genomics, bioinformatics, prenatal testing, and genetic testing; genetic counselors; bioethicists; fertility specialists

Table of Contents

  1. Basic Genetics: Mitosis, Meiosis, Chromosomes, DNA, RNA and Beyond 
    Amanda Kallen
    2. Identification of Genetic Causes of Gynecologic Disorders 
    Maria Lalioti
    3. Cytogenetics 
    Inmaculada Campos
    4. Molecular biology approaches utilized in pre-implantation genetics: real time PCR, microarrays, next generation sequencing, karyomapping, and others 
    Patricia Diaz Gimeno
    5. Epigenetics and Imprinting In ART 
    Emre Seli
    6. The Quest for Genetic Sequence Variants Conferring Risk of Endometriosis 
    Sun-Wei Guo 
    7. Genetics of PCOS  
    Joop Laven, and Yvonne Louwers
    8. Male Factor Infertility: Genetic and Epigenetic Aspects 
    Jim Hotaling
    9. Mitochondrial Genetics 
    Elpida Fragouli
    10. Endometrial Receptivity and Genetics 
    Nick Macklon
    11. Genetics of Reproductive Aging and POF 
    Juan Antonio Velasco
    12. Prenatal Testing 
    Joshua Copel, Katherine Kohari, Audrey Merriam
    13. Carrier Testing in Reproductive Medicine 
    Jeffrey Dungan
    14. PGT-A (PB, Day 3, Day 5…) 
    Richard Scott
    15. Future Technologies for Pre-Implantation Genetic Applications 
    Dagan Wells
    16. Counseling: Psychology of Genetic Diagnoses 
    Dorothy Greenfeld
    17. Bioethics in Human Reproduction 
    Guido  Pennings and Heidi Mertes
    18. The Role of Genetic Counseling in the Infertile Patient 
    Josep Pla-Victori


No. of pages:
© Academic Press 2020
24th April 2020
Academic Press
Paperback ISBN:
eBook ISBN:

About the Editors

Juan Garcia-Velasco

Juan García-Velasco is Director of IVI Madrid. He is also Professor of Obstetrics and Gynaecology at Rey Juan Carlos University, Madrid, Spain, where he is Director of their Master’s Degree Programme in Human Reproduction. He graduated from University Medical School, Madrid, in 1990 and received his Obstetrics and Gynecology certification from La Paz Hospital, Madrid, in 1995. He completed his PhD in Medicine from Autonoma University, Madrid, in 1995 and from 1997 to 1998 he studied at Yale University, New Haven, CT, under a Reproductive Endocrinology and Infertility Fellowship. His main research interests have been in IVF and endometriosis. He is the Principal Investigator of projects funded by the Ministry of Education and Ministry of Health, Spain, and has received awards from the Spanish Fertility Society, Spanish Society of Obstetrics and Gynecology, and the European Society of Human Reproduction and Embryology. He has published over 200 peer‐reviewed articles as well as 22 book chapters on human reproduction, endometriosis and hypo‐ and hyper‐ovarian stimulation response and is the author/editor of several books.

Affiliations and Expertise

Professor of Obstetrics and Gynecology, Rey Juan Carlos University, Madrid, Spain Director IVI RMA - Madrid, Spain

Emre Seli

Dr. Seli is Professor of Obstetrics, Gynecology, and Reproductive Sciences at Yale School of Medicine and Chief Scientific Officer at IVIRMA Global. He received his medical degree from the University of Istanbul and completed his Residency in Obstetrics and Gynecology at Yale University. His postdoctoral training included a fellowship in Reproductive Endocrinology and Infertility as well as a research fellowship in molecular biology, both at Yale University. As a physician-scientist, his primary focus is to understand and treat infertility. His laboratory characterized the mechanisms regulating translational activation of gene expression in the oocyte. Dr. Seli and his colleagues also made seminal contributions to our understanding of oocyte and embryo competence in IVF and the potential role of non-invasive diagnostic technologies in this context. Dr. Seli is the recipient of many National Institutes of Health (NIH) and pharmaceutical industry-sponsored research grants as well as numerous awards, including the Ira and Ester Rosenwaks New Investigator Award, American Society for Reproductive Medicine (ASRM) and the President’s Achievement Award from the Society for Reproductive Investigation (SRI).

Affiliations and Expertise

Professor of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine

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