Human Genetics and Genomics

Uitgebreide vaknaam	Human Genetics and Genomics
Leerdoelen	At the end of the course, the student is able to: 1. Describe the current molecular diagnostic tools that detect variants on nucleotide level and chromosomal aberrations in clinical genetics 2. Explain how genome sequencing is applied to find genetic causes of monogenic diseases 3. Discuss the ethical issues behind genetic testing, screening and editing and the use of genetic data and patient material; 4. Explain how you can use next-generation sequencing to study gene expression 5. Explain the principles of genome wide association studies that are used to identify genetic variants associated to complex genetic diseases 6. Explain how to functionally assess the pathogenicity of genetic variants; 7. Distinguish the major non-coding types of RNA (e.g. microRNAs and long noncoding RNAs) and their utility in biomedical research and the clinic 8. Explain how genetics can be used to realize personalized medicine, including pharmacogenetics 9. Explain the principles of CRISPR-Cas9 technology
Omschrijving	In the Basic Genetics course, students got insight in the organization of the genome and how genetic variations are linked to disease. In this follow-up course, we dive deeper in the principles from the Basic Genetics course. We discuss the differences between rare Mendelian diseases and common diseases from a genetics perspective. Here, we will focus on traditional and cutting-edge techniques that are used to get insights in the genetics of individuals. For instance to identify disease-causing genetic variants for patients suspected of having a Mendelian disease or to get biological understandings of a particular disease by measuring the transcriptome of a patient. In this course, we will take a look at human genetics and genomics from the perspective of a clinician, but also that of a researcher. There will be a particular focus on personalized medicine and we will talk extensively about new developments in (molecular) genetics, such as CRISPR-Cas9 gene-editing, and their ethical implications. To help in your understanding of this complex subject, we will have different tutorials and assignments, in which you will act the part as researcher by working on big datasets and create your own research proposal, and that of the diagnostic expert by working together on real-life cases from the clinic.
Uren per week
Onderwijsvorm	Bijeenkomst (S), Hoorcollege (LC), Opdracht (ASM), Practisch werk (PRC), Werkcollege (T) (Self Study (63hrs), LC (15hrs), S (4hrs), T (18hrs), ASM (24hrs), PRC (16hrs), all presentations, practicals, seminars and tutorials should be attended, otherwise no score)
Toetsvorm	Meerkeuze toets (MC), Practisch werk (PR), Presentatie (P), Schriftelijk tentamen (WE), Verslag (R) (WE (60%), MC(10%), R (16%), P (4%), PR-1 (5%), PR-2(5%), exam should be scored with a minimum of 5. Mean of exam and scores for practicals, assignments should be above 5.5)
Vaksoort	bachelor
Coördinator	dr. K.Y. Ma
Docent(en)	dr. K.Y. Ma ,dr. C.C. van Diemen ,dr. H. Westers ,prof. dr. A.P. Zhernakova
Verplichte literatuur	Titel Auteur ISBN Prijs Collegesheets via Brightspace A Primer of Human Genetics (not mandatory) Greg Gibson 978-1-60535-313-5
Entreevoorwaarden	Required prior knowledge and skills, acquired from the following course unit: Molecular Genetics PLEASE NOTE Students from other degree programmes than Biology and/or Life Science & Technology who would like to participate in this course unit are obliged to request admission from the BSc Biology programme team via bsc.biology@rug.nl. After this contact, students also have to contact one of the academic advisors before enrolling in this course in order to check whether they have met the entrance requirements. Failing to follow this entire procedure before the official enrollment deadline results in immediate unenrollment without prior notification. Please be aware that almost all course units within the BSc Biology programme are 3-week full-time courses ("blokvakken") and are difficult to combine with courses from other programmes. Students from the Bachelor's degree programmes Biology and old curriculum Life Science & Technology take priority over students from other degree programmes when the course has a maximum capacity.
Opmerkingen	Maximum capacity: 40 students
Opgenomen in	Opleiding Jaar Periode Type BSc Biology: major Behaviour and Neurosciences 2 semester II a keuze BSc Biology: major Biomedical Sciences 2 semester II a keuze BSc Biology: major Molecular Life Sciences 3 semester II a keuze MSc Farmacie  (Keuzevakken) - semester II a keuze