Human Genetics and Genomics
A Practical Guide
1. Auflage März 2020
160 Seiten, Softcover
8 Abbildungen (8 Farbabbildungen)
Das erste Laborhandbuch der Humangenetik. Jedes Kapitel behandelt eine Praxiseinheit. Die Themen reichen von den Grundlagen des menschlichen Erbgutes über die Genetik von Krankheiten, webbasierte Ressourcen, Bioinformatik und Individualmedizin bis hin zur genetischen Beratung.
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Finally meeting the need for a laboratory manual on human genetics, this practical guide is the perfect companion title to all major standard textbooks on the subject. The authors all have a high-level research background and are actively involved in teaching and counseling.
Based on a standard curriculum in human genetics, each chapter equals one practical unit of the course and topics range from basics in human inheritance to genetics in major disease clusters and from bioinformatics and personalized medicine to genetic counseling.
Summary of Chapters
Experiment 1: Exploring Online Genetic Sources
Experiment 2: Observation of Human Inheritance
Experiment 3: Reading, Understanding and Constructing Human Pedigrees
Experiment 4: Cytogenetics
Experiment 5: Exploring DNA, RNA, Protein Sequence Databases and Genome Browsers
Experiment 6: Exploring Online Bioinformatics Tools
Experiment 7: Multifactorial Inheritance and Common Complex Diseases
Experiment 8: Neurogenetics and Behavioral Genetics
Experiment 9: Cancer Genetics
Experiment 10: Genetic Counseling
Experiment 11: Evolving Tools in Genome Editing: CRISPR-CAS
Esra Asilmaz is currently a Locum Consultant in Gastroenterology and General Internal Medicine at Homerton University Hospital in London, UK. She obtained her Ph.D. 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 2009-2011, she completed an Academic Foundation Programme 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 2011-2014 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 counsellor. She graduated with a BSc in Biology from the University of South Dakota, USA in 2003. She completed her MSc in Genetic Counselling with a merit from the University of Manchester, UK in 2006. She has been working as a genetic counsellor 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 counselling in the context of culture. She is currently pursuing her Ph.D. degree, which is sponsored through the University of Plymouth, UK titled "Genetic Counselling in the Turkish Cypriot community". She is dedicated to increasing awareness about genetic conditions and genetic counselling, within her community. She penned a weekly column titled "Genetics Today" at one of the main newspapers in North Cyprus from 20004 until 2017. Over the years, she has been continuosly 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 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-thalassaemia 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, United Kingdom, in 2010, where she completed a project on X-linked cataract and Nance-Horan Syndrome. Upon completing her graduate degree, she has 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 towards a Ph.D. degree in molecular biology and genetics department with a 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 C. elegans, which was awarded Summa Cum Laude honours. She has received several awards including the Howard and Helen Russell Award for Excellence in Biological Sciences. Between 2013-2014, 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. Since then, she has been working as a foundation doctor in the North West Thames Foundation School in UK.