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| Semester | Frühjahrsemester 2022 |
| Angebotsmuster | Jedes Frühjahrsem. |
| Dozierende | |
| Inhalt | This introductory course focuses on the fundamentals of human disease and molecular genetics by integrating recent developments in genetics and genomics with clinical practice. It is designed to give students a basic understanding of genetic concepts using clinical case studies that pertain to each major topic. Topical Outline 1. Review of Basic Cell Biology, Central Dogma and Structure and Function of Genes and Chromosomes. Objective 1 2. Mendelian Inheritance Patterns – Cystic Fibrosis and Sickle Cell Disease Objective 3 3. Three Generation Pedigrees Objective 4 4. Chromosomal abnormalities, translocations, trisomies and deletions. Objective 2 5. Non-Mendelian inheritance patterns and Sex-linked diseases. Objective 3 6. Detection and measurement of genetic variation Objective 5 7. Epigenetics and Imprinted diseases Objectives 5 and 6 8. Cancer genetics Objectives 6 and 9 9. Neurogenetics Objectives 5 and 9 10. Multifactorial diseases Objectives 5 11. Immunogenetics Objective 6 12. Inborn errors of Metabolism and Orphan diseases Objective 5 13. Pharmacogenomics and Precision Medicine Objective 7 14. Ethic issues of Genetics Objective 8 15. Genetic Testing, Reproductive genetics and Gene Editing Objectives 8 and 9 Each week class will include a one-hour lecture followed by students working in small groups to resolve case studies. At the end of class, each group will report on an assigned portion of the case study. PowerPoint slides of each lecture will be available to students. Figures included on the slides are referenced, unless they come from the textbook or www.bing.com/images |
| Lernziele | Upon completion of this course, the student will be able to: 1. Recognize the importance of understanding that all genetic diseases involve defects at the level of the cell. 2. Describe chromosomal abnormalities 3. Conceptualize differences between inheritance patterns 4. Incorporate principles of genetic variability and inheritance into their patient assessments 5. Explain the methods of detection, measurement and identification of genetic variation for both single gene disorders and multifactorial diseases in all ages. 6. Recognize the growing field of Immunogenetics, and the treatment of patients with cancer. 7. Be able to discuss the importance of precision medicine and how it should have an impact on the role of the Advanced Practice Nurse 8. Describe the social/ethical issues involving genetics and genomics today, especially gene editing. 9. Examine the role of the family in the diagnosis and treatment of genetic disorders, and when genetic counseling is needed. |
| Literatur | Medical Genetics, 6th Edition, Eds. L. B. Jorde, J. C. Carey, and M. J. Bamshad. Elsevier, 2020, ISBN: 978-0-323-18835-7. Students are expected to read the chapters that are discussed in class. There are also required and optional readings list to supplement the textbook. |
| Bemerkungen | Dozentin: Susan Wesmiller |
| Weblink | Login ADAM |
| Teilnahmebedingungen | Aufnahme in den Studiengang Pflegewissenschaft oder schriftliches Einverständnis (Mail) der Dozierenden. |
| Anmeldung zur Lehrveranstaltung | Anmelden: Belegen |
| Unterrichtssprache | Englisch |
| Einsatz digitaler Medien | kein spezifischer Einsatz |
| Intervall | Wochentag | Zeit | Raum |
|---|---|---|---|
| wöchentlich | Dienstag | 13.00-16.00 | - Online Präsenz - |
| Datum | Zeit | Raum |
|---|---|---|
| Dienstag 22.02.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 01.03.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 08.03.2022 | 13.00-16.00 Uhr | Fasnachtsferien |
| Dienstag 15.03.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 22.03.2022 | 13.00-16.00 Uhr | Virtual lab visit |
| Dienstag 29.03.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 05.04.2022 | 14.15-17.00 Uhr | - Online Präsenz -, -- |
| Dienstag 12.04.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 19.04.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 26.04.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 03.05.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 10.05.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 17.05.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 24.05.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Dienstag 31.05.2022 | 13.00-16.00 Uhr | - Online Präsenz -, -- |
| Module |
Modul erweiterte Kenntnisse der Advanced Nursing Practice (ANP) (Masterstudium: Pflegewissenschaft) (Pflicht) |
| Leistungsüberprüfung | Leistungsnachweis |
| Hinweise zur Leistungsüberprüfung | Schriftliche Arbeit |
| An-/Abmeldung zur Leistungsüberprüfung | Anmelden: Belegen; Abmelden: Institut |
| Wiederholungsprüfung | eine Wiederholung, bester Versuch zählt |
| Skala | Pass / Fail |
| Wiederholtes Belegen | einmal wiederholbar |
| Zuständige Fakultät | Medizinische Fakultät |
| Anbietende Organisationseinheit | Institut für Pflegewissenschaft |