Human Genetics and Genomics

Uitgebreide vaknaam	Human Genetics and Genomics
Leerdoelen	At the end of the course, the student is able to: 1. knows about current molecular diagnostic tools in clinical genetics; 2. can explain how genome sequencing is used to find genetic causes of disease and understands the analysis steps needed; 3. can discuss the ethical issues behind genetic testing and screening and the use of genetic data in research (eg. biobanking); 4. can explain how you can use next-generation sequencing to study gene expression and understands which method should be used when; 5. understands the principles of genome wide association studies to unravel causes of complex genetic diseases and to find quantitative trait loci and can apply these principles; 6. knows how to functionally validate genetic variants to assess involvement in disease development; 7. has basic knowledge about microRNAs, long noncoding RNAs and regulatory elements in the genome, their role in disease pathogenesis and knows how to detect them; 8. can explain how next generation sequencing can be exploited to realize personalized medicine (eg. tumour profiling).
Omschrijving	This course is a follow-up of the Basic Genetics course. Within the Basic Genetics course students got insight in the organization of the genome in relation to genetic variation and in the importance of identification of disease genes. Techniques used to identify genetic loci involved in monogenic diseases are discussed. Students learned to work with genome browsers and databases. In this follow-up course the research done to identify disease genes for patients suspected of having a monogenic disease, but without a genetic diagnosis, will be taught. Genetic complex diseases are discussed and which genomics techniques are used to identify which genes and which molecular biological mechanisms are involved in the development of diseases. During computer assignments students work with big datasets and by writing a research proposal the question is addressed when to use which genomics methods and how these methods work. Ethical aspects about the use of genomics methods generating big data sets in the clinic and research will be discussed. Contents: - genome wide association studies in large patient cohorts and controls to look for disease genes; - expression profiling of human tissue to get to know which genes or pathways are changed in affected tissue; - developments and use of next generation sequencing techniques in genetic research and diagnostics; - clinical doctors and geneticists present how genomic data is used in a research setting to find new disease genes for clinical daily practice (development of DNA diagnostics).
Uren per week
Onderwijsvorm	Bijeenkomst (S), Hoorcollege (LC), Opdracht (ASM), Practisch werk (PRC) (LC-20 hrs, S-22 hrs, ASM-12 hrs, PRC-20 hrs, self-study 64 hrs)
Toetsvorm	Meerkeuze toets (MC), Opdracht (AST), Practisch werk (PR), Presentatie (P), Schriftelijk tentamen (WE) (WE-60%, MC-10%, P1-10%, P2-5%, PRC1-5%, PRC2-5%, AST-5%. Exam should be scored with a minimum of 5. Mean of exam and scores for practicals, assignments shouls be above 5.5)
Vaksoort	bachelor
Coördinator	dr. C.C. van Diemen
Docent(en)	dr. L.F. Johansson ,dr. I.H. Jonkers ,dr. C.C. van Diemen ,dr. H. Westers ,prof. dr. A.P. Zhernakova
Verplichte literatuur	Titel Auteur ISBN Prijs A Primer of Human Genetics (not mandatory) Greg Gibson 978-1-60535-313-5 Lecturesheets via nestor
Entreevoorwaarden	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 contact one of the academic advisors before enrolling in this course in order to check whether they have meet de entrance requirements. After this contact, students also have to request admission from the Board of Examiners Biology/Life Science & Technology. Failing to follow this entire procedure before the official enrollment deadline, results in immediate unenrollment without prior notification. Students from the Bachelor's degree programmes Biology and Life Science & Technology take priority over students from other degree programmes when the course has a maximum capacity.
Opmerkingen	Maximum capacity: 60 students All presentations, prcaticals, seminars are mandatory otherwise no final grade
Opgenomen in	Opleiding Jaar Periode Type BSc Biology: major Biomedical Sciences 2 semester II a keuze BSc Biology: major Molecular Life Sciences 3 semester II a keuze BSc LS&T: major Molecular Life Sciences (cohort 2018 and 2019) 3 semester II a keuze MSc Farmacie  (Keuzevakken) - semester II a keuze