A Practical Guide
Authors
Bahar Taneri
Eastern Mediterranean University,
Department of Biological Sciences,
Famagusta, North Cyprus
and
Maastricht University, Institute for
Public Health Genomics, Department
of Genetics and Cell Biology, Faculty
of Health, Medicine & Life Sciences,
Maastricht, The Netherlands
Esra Asilmaz
Gastroenterology and General Internal
Medicine at Homerton University
Hospital, London, United Kingdom
Türem Delikurt
European Board of Medical Genetics
Registered Genetic Counselor
Cyprus
Pembe Savas
Eastern Mediterranean University,
Department of Biological Sciences,
Famagusta, North Cyprus
Seniye Targen
Bilkent University, Molecular Biology
and Genetics Department, Faculty of
Science, Cankaya, Ankara, Turkey
Yagmur Esemen
Imperial College Healthcare NHS Trust,
London
United Kingdom
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Cover Design Grafik-Design Schulz
For Irmak, Emir, Muharrem Güder and Cem, Remziye Taneri - BT
For Rüzgar and my family - EA
For the loving memory of my beloved father Retired Major Derviş Delikurt - TD
For Vildan Naz and my family - PS
For my father Tözüm Targen, mother Bilge Targen and sister Neşe Targen - ST
For my mother Necla Esemen and my family - YE
and for all our students.
Bahar Taneri is a Professor of Molecular Biology and Genetics at Eastern Mediterranean University (EMU), Famagusta, Cyprus. After obtaining her PhD degree in Biomedical Sciences from The Rockefeller University, New York, USA, in 2005, she has taught several Genetics and Genomics modules at EMU, where she has founded the Molecular Biology and Genetics undergraduate program. At EMU, she has served as the editor-in-chief of the University Research Newsletter for two years. She has also been chairing the Department of Biological Sciences since 2013. She has been an affiliated researcher of the Institute for Public Health Genomics, Department of Genetics and Cell Biology, Faculty of Health, Medicine and Life Sciences at Maastricht University, Netherlands, since 2011. She has authored several publications in the fields of genome biology and personalized medicine. Currently, her main research interests include human genomics, epigenomics, and efficient translation of personalized genome-based findings into healthcare and medicine, for prediction and prevention of common complex diseases. She is a founding member of the Medical Biotechnology Master's program at EMU, where she teaches modules including Genome Editing.
Esra Asilmaz is currently a Locum Consultant in Gastroenterology and General Internal Medicine at Homerton University Hospital in London, UK. She obtained her PhD degree in Molecular Genetics from The Rockefeller University, NYC, USA, in 2004. She subsequently obtained her Bachelor of Medicine, Bachelor of Surgery degree in 2009 from St. George's University of London, UK. Between 2009 and 2011, she completed an academic foundation program at St. Thomas' and Guy's Hospital, London, UK. During this time, she worked at Professor Trembath's Laboratory of Human Genetics and was involved in the identification of Notch2 mutations in Hadju–Cheney Syndrome, a rare genetic condition. She was an Academic Clinical Fellow at University College Hospital, London, UK, between 2011 and 2014 and was a member of Dr. Oben's laboratory at the Institute of Liver and Digestive Health. She obtained her MRCP (UK) Diploma in 2014 and Specialist Examination in Gastroenterology in 2016. She obtained her CCT in Gastroenterology and General Internal Medicine in September 2019.
Turem Delikurt is a registered genetic counselor. She graduated with a BSc in Biology from the University of South Dakota, USA, in 2003. She completed her MSc in Genetic Counseling with merit from the University of Manchester, UK, in 2006. She has been working as a genetic counselor in Cyprus since 2006. In 2015, she was registered by the European Board of Medical Genetics. Her main research interest is the exploration of genetic counseling within the context of culture. She is dedicated to increasing awareness about genetic conditions and genetic counseling, in Cyprus. She penned a weekly column titled “Genetics Today” at one of the main newspapers in Cyprus from 2004 until 2017. Over the years, she has been continuously involved in various civil society activities aimed at increasing the quality of care and life of patients and families at risk of or affected by genetic conditions in Cyprus.
Pembe Savas obtained her undergraduate degree in Medical Biochemistry from the University of Leicester, UK, in 2011 and further received an MSc degree in Reproductive Science and Women's Health at University College London, UK, in 2012. She has completed her project on pre-implantation genetic diagnosis of beta-thalassemia at Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, in 2012, where she gained hands-on laboratory experience. Since 2013, Pembe Savas is working as a senior instructor at the Department of Biological Sciences, Eastern Mediterranean University, Famagusta, Cyprus, where she is responsible for teaching numerous modules for the Molecular Biology and Genetics program, including Human Genetics. Her research interests include genetic testing in common complex diseases. Furthermore, since 2017 she has been actively involved in the Cyprus Women's Health Research Initiative.
Seniye Targen obtained her undergraduate degree in Human Genetics from Newcastle University, UK, in 2009 and further specialized in the field of Human Molecular Genetics at Imperial College London, UK, in 2010, where she completed a project on X-linked cataract and Nance–Horan Syndrome. Upon completing her graduate degree, she gained experience in private medical diagnostic laboratories. She had been employed as a laboratory instructor in the Department of Biological Sciences at the Eastern Mediterranean University, Famagusta, Cyprus, from 2013 to 2015. Currently, she is working toward a PhD degree in Molecular Biology and Genetics Department with particular focus on breast cancer biology at Bilkent University, Ankara, Turkey.
Yagmur Esemen is currently working as a Foundation Year Two Doctor at Charing Cross Hospital, London, UK. In 2013, she completed her undergraduate degree in Neuroscience and Biology with honors at Lawrence University, WI, USA. As an undergraduate, she has been involved in various research projects in the fields of neuroscience, molecular biology, and genetics. In 2011, she spent a summer at Mayo Clinics, Rochester, MN, USA, studying the effects of Bro1 family members on Vps4 activity. Her senior thesis, completed in 2013, was on investigating the neural targets of DAF-19 in Caenorhabditis elegans, which was awarded Summa Cum Laude honors. She has received several awards including the Howard and Helen Russell Award for Excellence in Biological Sciences. Between 2013 and 2014, she worked as a laboratory instructor at the Department of Biological Sciences, Eastern Mediterranean University, Famagusta, Cyprus. She obtained her Bachelor of Medicine, Bachelor of Surgery degree with distinction from St. George's University of London, UK, in 2018.
Human Genetic and Genomics: A Practical Guide provides an introductory source for the ever-evolving fields of human genetics and genomics. Chapters presented in this book will enable the students to learn and understand the basic concepts in human genetics and genomics. In addition, contemporary research, technology, and developments shaping these fields are introduced. The chapters are specifically designed to pique the students' interest in the ever-evolving fields of human genetics and genomics, and are supplemented with exercises.
The book is structured as a practical guide, with a general framework, and could be used as an individual source or could be supplementary to any standard human genetics textbook used for any introductory human genetics course for university students, as well as advanced high school students.
Each chapter begins with a list of learning outcomes. This section introduces the reader to the learning objectives of the chapter. Learning outcomes are followed by introductory background text, which provides the reader with theoretical background information about the topic. Depending on the chapter content, this section could include basic scientific concepts, disease information, research results, and necessary visual aids. Background sections cover literature information, as well as contemporary developments and relevant improvements in the field. As each chapter is self-contained, the reader does not need to refer to another source or other chapters within the book.
Background information is followed by Exercise Questions, typically designed to be completed in short sessions. These sessions facilitate easy grasp of human heredity knowledge and contemporary genomics topics, as well as stimulating critical thinking on the subjects. Exercise questions form an active learning part of the Human Genetics and Genomics: A Practical Guide. The final part of each chapter includes Additional Exercise Questions. These questions are designed to facilitate independent study about the information provided in the chapter and about further related topics.
The chapters are arranged such that there is a well-rounded introduction to human genetics and genomics and a challenging approach to develop critical and scientific thinking about the topics in the field.
In Chapter 1, Exploring Online Genetics Sources, readers are introduced to widely used online genetics sources. Through interactive exercises, they learn to utilize various genetics tools available on the World Wide Web. These include directed navigation through National Center for Biotechnology Information (NCBI)'s databases. Custom-designed exercises allow readers to familiarize themselves with commonly used sources such as PubMed and GeneDB. Exercises lead the readers to learn how to search and gather information on genes and diseases. Additionally, this chapter includes a list of popular online genetics sources and their associated URLs.
In Chapter 2, Observation of Human Inheritance, readers are introduced to genotype and phenotype concepts. By studying monogenic Mendelian traits, they observe inheritance of a number of physical human traits. They study phenotypes including but not limited to, shape of ear lobe, shape of hairline, ability to roll tongue, shape of little finger. All exercises are guided by visual aids of these phenotypes. Further, readers are guided to gather data from the general population and try to assess allelic variation and allele frequencies.
In Chapter 3, Reading, Understanding, and Constructing Human Pedigrees, readers are introduced to inheritance of certain genetic diseases of humans. They first learn the up-to-date symbols of pedigrees and learn how to read pedigrees. Later on they learn about modes of inheritance and study autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, and Y-linked inheritance. The chapter goes beyond single-gene inheritance and the readers are introduced to polygenic diseases as well as mitochondrial diseases. Readers are given certain pedigrees and are requested to decipher the mode of inheritance through interactive exercises.
In Chapter 4, Cytogenetics, readers are introduced to cytogenetics and learn how to analyze human chromosomes. They learn about karyotyping, standard staining, and banding patterns. In addition, they are introduced to contemporary techniques including FISH. Online exercises of shuffling and arranging chromosomes enable readers to understand in detail the structures of chromosomes and identify mutations. They learn about terminology including, but not limited to, monosomy, trisomy, and translocation. A list of chromosomal aberrations and definitions is included.
In Chapter 5, Exploring DNA, RNA, Protein Sequence Databases, and Genome Browsers, readers are introduced to molecular sequences. This chapter covers DNA, RNA, and protein sequences. Readers are introduced to bioinformatics and they learn about computational tools used for analysis and interpretation of molecular sequence data. As high-throughput sequence data analysis is now a big part of genetics, readers are introduced to fields such as genomics, transcriptomics, and proteomics.
In Chapter 6, Exploring Online Bioinformatics Tools, readers are introduced to certain bioinformatics and computational tools used for comparing multiple DNA, RNA, or protein sequences to decipher the mutations underlying human diseases and evolutionary relationships between organisms. The effects of various mutations on protein structures and functions are covered with exercises.
In Chapter 7, Multifactorial Inheritance and Common Complex Diseases, readers are introduced to common complex diseases. They learn about human polygenic diseases and the environmental influence on human health. Gene–environment interactions (GxE), epigenetics/epigenomics, and their influence on human development and health are covered. Exercises include work on obesity, diabetes, and cardiovascular diseases, each of which has a very high public health burden worldwide.
In Chapter 8, Neurogenetics and Behavioral Genetics, readers are introduced to a subgroup of common complex diseases, which are of significant public health burden. These diseases include neurological conditions with genetic components, such as Alzheimer's disease. They learn about human behavioral conditions such as depression and schizophrenia, which have a significant genetic component. Through exercises students learn about environmental factors, which together with genetic predisposition cause disease onset.
In Chapter 9, Cancer Genetics, readers are introduced to the genetics of one of the most significant human diseases, cancer. They learn about cell cycle and how it is disrupted in cancer. They learn about familial cancers, specific genes, inheritance, and genetic predisposition. Through exercises, they are able to do risk assessment. They use tools such as breast cancer risk assessment tool. Tumor profiling through sequencing and targeted molecular treatments are discussed.
In Chapter 10, Genetic Counseling, readers are introduced to the field of genetic counseling. Family history taking and constructing pedigrees are covered in detail. Internationally accepted standard protocols used in genetic counseling are studied. Readers could actually practice genetic counseling through simulated sessions and they address diverse cases including Huntington's disease in a family and pre-implantation genetic diagnosis.
In Chapter 11, Evolving Tools in Genome Editing: CRISPR-Cas, readers are introduced to the contemporary genome editing tools. Specifically, the CRISPR-Cas methodology is covered in detail. Applications of this recent technology are discussed. Through exercise questions, readers critically analyze the advantages and disadvantages of genome editing technologies.
In short, through 11 different chapters, Human Genetic and Genomics: A Practical Guide provides an easy to grasp, handy source for the ever-evolving fields of human genetics and genomics. Further, this guide facilitates active learning via its exercise questions content, through which critical and scientific thinking about the topics are stimulated.