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11879-01 - Vorlesung: Medizinische Genetik in Klinik und Labor (4 KP)

Semester Frühjahrsemester 2013
Angebotsmuster Jedes Frühjahrsem.
Dozierende Maria Katapodi (maria.katapodi@unibas.ch)
Inhalt - Basic principles of molecular and cell biology
- Biological, psychosocial, and societal issues of genetic predisposition to disease
- Core competences in genetics for health care professionals as recommended by the National Coalition for Health Professional Education in Genetics (NCHPEG)
- Examples of nursing research studies in genetics/ genomics
Lernziele This course will focus on the basic principles of human genetics, the mechanisms underlying genetic mutations, and the patterns of inheritance associated with common genetic disorders. The course will address genetic mechanisms of human disease for single-gene and multifactorial disorders. Patterns of incomplete penetrance and variable expression will be discussed. A case-based learning process will be used to address common genetic syndromes, risk assessment, screening and surveillance guidelines, as well as the educational needs and pharmacological management of individual and families with genetic predisposition to disease.

Upon cempletion of the course students will be able to:
1. Describe the structure and function of DNA, chromosomes and genes
2. Understand the mechanisms of Mendelian inheritance (autosomal dominant, autosomal recessive, and sex-linked) and non-Mendelian inheritance (genetic heterogeneity, variable expression, genetic instability, and multifactorial inheritance)
3. Describe characteristics of genetic syndromes and genetically mediated disease
4. Understand basic principles of collecting clinical data and family history data for risk assessment and interpretation
5. Understand principles of providing genetic education and counseling to individuals and families, explaining genetic testing and providing an interpretation of genetic test results
6. Identify resources and facilitate the clinical management of genetic syndromes and genetically mediated disease
7. Discuss ethical, legal, and social (ELSI) issues associated with genetic disease, develop strategies for culturally sensitive and equitable delivery of nursing care to individuals and families
8. Discuss nursing professional roles, opportunities for leadership, and nursing research studies related to genetic/ genomic diseases
Literatur Students are expected to have read the relevant chapters and other readings before lectures according to the course outline (Semesterkalender).

The following books are RECOMMENDED. Besides these resources students are encouraged to search the World Wide Web for additional educational resources.
Obligatorisch:
- Beery T.A. and Workman M.L. Genetics and Genomics in Nursing and Health Care. Davis Plus Publishers.
Fakultativ:
- Jenkins J.F and Halsey D.L. Nursing Care in the Genomic Era: A Case-Based Approach. Jones and Bartlett Publishers.
- Jorde L.B., Carey, J.C., and Bamshad, M.J. Medical Genetics (4th Ed.). Mosby Publishers.

Additional Resources:
- CDC Family Health History Tools http://www.g-2-c-2.org/download.php?id=556
- Genetics for Health Care Professionals-a life stage approach http://www.g-2-c-2.org/download.php?id=167
- Human Genetics and Genomics, 3rd Edition http://www.g-2-c-2.org/download.php?id=571
-Telling Stories - Understanding Real Life Genetics http://www.g-2-c-2.org/download.php?id=22
Bemerkungen Medical and Nursing Care in the Genomic Era: Classroom teaching and videoconferencing
Weblink Login Intranet

 

Teilnahmevoraussetzungen Aufnahme in den Studiengang Pflegewissenschaft
Anmeldung zur Lehrveranstaltung Anmelden: Belegen
Unterrichtssprache Englisch
Einsatz digitaler Medien Online-Angebot obligatorisch

 

Intervall Wochentag Zeit Raum

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Module Advanced Nursing Practice II (ANP II) (Master Pflegewissenschaft) (Pflicht)
Prüfung Leistungsnachweis
Hinweise zur Prüfung 1) Two oral presentations
2) Written Exam (multiple choice)
An-/Abmeldung zur Prüfung Anmelden: Belegen; Abmelden: Institut
Wiederholungsprüfung eine Wiederholung, bester Versuch zählt
Skala Pass / Fail
Belegen bei Nichtbestehen einmal wiederholbar
Zuständige Fakultät Medizinische Fakultät
Anbietende Organisationseinheit Institut für Pflegewissenschaft

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