Human Reproductive Genetics: Emerging Technologies and Clinical Applications

by Juan A. Garcia-Velasco, Emre Seli

Overview

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.

Product Details

ISBN-13:	9780128165614
Publisher:	Elsevier Science
Publication date:	04/24/2020
Pages:	340
Product dimensions:	7.50(w) x 9.25(h) x (d)

About the Author

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.

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).

Table of Contents

1. Basic Genetics: Mitosis, Meiosis, Chromosomes, DNA, RNA and Beyond
2. Identification of Genetic Causes of Gynecologic Disorders
3. Cytogenetics
4. Molecular biology approaches utilized in pre-implantation genetics: real time PCR, microarrays, next generation sequencing, karyomapping, and others
5. Epigenetics and Imprinting In ART
6. The Quest for Genetic Sequence Variants Conferring Risk of Endometriosis
7. Genetics of PCOS
8. Male Factor Infertility: Genetic and Epigenetic Aspects
9. Mitochondrial Genetics
10. Endometrial Receptivity and Genetics
11. Genetics of Reproductive Aging and POF
12. Prenatal Testing
13. Carrier Testing in Reproductive Medicine
14. PGT-A (PB, Day 3, Day 5…)
15. Future Technologies for Pre-Implantation Genetic Applications
16. Counseling: Psychology of Genetic Diagnoses
17. Bioethics in Human Reproduction
18. The Role of Genetic Counseling in the Infertile Patient

What People are Saying About This

From the Publisher

Ideal reference for clinicians and researchers in reproductive medicine, assembling critically evaluated content on genetics and epigenetics

Editorial Reviews

"This is a wonderful first edition in a new and rapidly expanding field of human reproductive genetics. It is a useful book for its narrow-intended audience. It is an excellent resource for students, residents, and fellows. The wide range of contributors from across the globe adds to the book's fund of knowledge. I see this becoming an important resource to have in the future and I hope the authors will be able to keep it up to date given the evolving nature of the content." —Doody

From the Publisher

Reviewer: Angela Rose Seasely, MD, MS (University of Alabama at Birmingham School of Medicine)
Description: This is a first edition covering human genetics in relationship to the reproductive field. This book provides an understanding of basic genetic concepts, an overview of recent genetic advancements, and the relationship between genetics and reproductive diseases. The book has well organized chapters that assist in building readers' knowledge in a sequential fashion. I would recommend adding an option for online access to be able to access the content in any location.
Purpose: The book's purpose is to present and educate readers on important advancements in genetic techniques in their relation to reproductive medicine. This is a worthy and much needed topic given such a rapidly evolving field.
Audience: This book is targeted to practitioners in the reproductive endocrinology subset of OB-GYN specialties, medical geneticists, students, and genetic counselors. It is a very targeted audience; however, the book does meet the needs of these specialties. The book has a wide range of authors, mainly from Europe, China, and the northeastern United States. The two main editors, Dr. Juan A. Garcia-Velasco and Dr. Emre Seli, are both well recognized experts on the content and known for their dedication to education. This book is another great example of their contributions to their specialty.
Features: The chapters are broken down into sections covering fundamentals of genetics followed by its relationship to the reproductive field. There is a natural logical progression of the book's chapters, which makes reading and building on the readers' knowledge an easy task. This book features clinical scenarios and case examples, which is a refreshing break from some denser genetic content. The material is presented in an easy-to-digest manner and provides a solid amount of figures and tables for quicker reference. The addition of chapters on psychological and bioethics aspects of the field is a welcome addition and a very important aspect that I was happy to see addressed. The inclusion of genetic counseling is always appreciated given the integral part these providers play in the field.
Assessment: This is a wonderful first edition in a new and rapidly expanding field of human reproductive genetics. It is a useful book for its narrow-intended audience. It is an excellent resource for students, residents, and fellows. The wide range of contributors from across the globe adds to the book's fund of knowledge. I see this becoming an important resource to have in the future and I hope the authors will be able to keep it up to date given the evolving nature of the content.

Doody's Review Service