This book delves into the complexities of genetic inheritance, revealing what happens when scientists, genetic counselors, and parents come together to make decisions that will shape their families' futures. Through compelling family stories and conversations, the book demystifies genetic science and counseling, making the subject accessible and engaging for a general audience.
The book covers the intersection of genetic science and genetic counseling, using real-life inspired family cases to illustrate the process and impact of genetic testing and counseling. It provides insights into the clinical application of genetic discoveries, emphasizing the human stories behind the science.
This book fills a crucial gap in the popular science literature by addressing both the scientific and personal aspects of genetic counseling. Existing books either focus solely on the science or are geared toward professionals, leaving a void for general readers who seek to understand how genetic knowledge can affect their lives and their children's futures.
The Readers will gain a comprehensive understanding of genetic inheritance and its implications for personal and family health. The book's approachable format, combining scientific explanations with personal narratives, will educate and empower readers to make informed decisions about their genetic health. Prospective parents, support groups, health professionals, and amateur genealogists will find valuable insights and guidance in this unique and timely resource.
A. Introduction.-
1. An unexpected reunion, and the dialogue begins.-
2.
Speculation, faith, and professional advice: The long road to modern genetic
counseling.- B. Case Studies.-
3. Chromosomes: Packing for the genetic
journey.-
4. A deeper dive toward diagnosis: The hunt for missing and
extra genes.-
5. The Diagnostic Deep Dive: How Emerging Technologies are
Providing Answers from Bruiser to Prospective Dad.-
6. Prenatal genetic
diagnosis.-
7. Ethical issues.-
8. De novo mutations appear out of the blue.-
9. Are genetic defects always manifested in the same way?.-
10. Sex
determination.-
11. X-linked disorders.-
12. Epigenetic disorders.-
13.
Multifactorial polygenic inheritance.-
14. Late onset disorders.- C.
Implementing the genetic information.-
15. Decision making from the
perspective of the diagnosis clinical lab, counselor, patient/relative.-
16.
Questions asked by each tier, filters the information as it flows down.-
17.
Politics and economics of funding and insurance future directions.- D.
Delving deeper into genetics.-
18. Journey to the center of the cell: The
nucleus.-
19. Genotype-Phenotype relationships.-
20. Origin and inheritance
of genetic disorders.-
21. How are human disease genes initially identified.-
22. What do flies and worms teach us about human disease.
Ehud Banne, MD, MSc, Head of Department, Institute of Human Genetics
Wolfson Medical Center, Holon, Israel
Dr. Ehud Banne (MD, MSc) is a clinical geneticist specializing in rare and complex genetic disorders. He is the Head of the Department at the Institute of Human Genetics at Wolfson Medical Center in Holon, Israel, where he combines advanced clinical care with the interpretation of complex genomic data.
Dr. Banne has published dozens of peer-reviewed articles in leading international journals, focusing on neurodevelopmental disorders, metabolic diseases, and the genetic mechanisms underlying rare syndromes. His work integrates careful clinical observation with contemporary genomic and functional research.
Beyond his clinical and research activities, Dr. Banne has played a key role in shaping clinical genetics practice and training. He led the national consultation group for the interpretation of chromosomal microarray results and has trained and mentored physicians in clinical genetics and genetic counseling, including preparation for board certification. He is also actively involved in medical education and lectures in courses at the Faculty of Medicine of Tel Aviv University.
Dr. Bannes work is defined by the intersection of science, diagnosis, and human decision-makingan approach that underpins this book.
Ben-Zion Shilo, PhD, Professor, Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
Dr. Benny Shilo (1951-2025) (PhD) was a Professor of molecular genetics at the Weizmann Institute of Science, where he served in a variety of leadership, research, and teaching roles for over 40 years. Benny has published dozens of papers in leading international journals and his work has made fundamental contributions to the understanding of cell signaling in embryonic development, including normal functions of genes that are commonly deregulated in cancer.
He served as the Chair of the Department for Genetic Development and as the Dean of the Biochemistry Faculty at the Weizmann Institute of Science. He was a visiting Professor at Yale University, Harvard University, Stanford University, and a Fellow at the Radcliffe Institute of Advanced Study at Harvard University and at the Wissenschaftscolleg zu Berlin. He was a Board member of the European Molecular Biology Organization (EMBO) and the National Center of Biological Sciences (NCBS) in India. He served on the editorial board of The EMBO Journal and Molecular Systems Biology. Benny was the recipient of the Michael Bruno Prize (2000) and of the EMET Prize in Genetics (2013).
