TIMETABLE of the lecture
Human Genome Variability in Health and Disease
Winter semester 2018/2019
Lecture will be held Wednesdays in seminar hall of the Institute of Human Genetics Polish Academy of Sciences, Strzeszyńska St 32, Poznań.
| Date | Topic
|
| 3 October
9:00 -10:00 |
Mechanisms shaping the genetic variability 1h |
| 10 October
11:00 -13:00 |
Mechanisms shaping the genetic variability 1h
Evolution of the human genome 1h
|
| 17 October
9:00-10:00 |
Evolution of sex chromosomes 1h |
| 24 October
9:00 -11:00 |
Selection and demography in shaping genetic diversity profiles 2h |
| 7 November
9:00 -11:00 |
History of genes and history of population 2h |
| 14 November
9:00 -11:00 |
Mobile elements in the human genome part 1h
Copy number variation in the human genome 1h
|
| 19 December
9:00 -11:00 |
Evolution of Homo sapiens 2h |
| 9 January
9:00 -11:00 |
mitochondrial haplogroups 1h
Genetic epidemiology in forensic studies 1h
|
| 16 January
9:00 -11:00 |
Genetic epidemiology in medical studies 2h |
| 23 January
9:00 -11:00 |
Genetic variability of the cell function in health and disease 2h |
| 30 January
9:00 -11:00 |
Genetic variability of the cell function in health and disease part 2h |
SYLABUS
Winter semester 2018/2019
(Lectures will be held Wednesdays starting on 3 October 2018 in lecture hall of the Institute of Human Genetics Polish Academy of Sciences)
| Course | Human Genome variability in Health and Disease |
| Host Institution
|
Institute of Human Genetics
Polish Academy of Sciences Strzeszyńska Street, 32 |
| Language | English |
| The expected effects of teaching in terms of: knowledge, skills and social qualifications | Ph. D. student is supposed to:
1.Gain knowledge in several aspects of human genome variability and its significance in human health and disease. In particular, the following specific topics will be elaborated: -Mechanisms shaping the genetic variability -Evolution of sex chromosomes -Selection and demography in shaping genetic diversity profiles -History of genes and history of populations -Mobile elements in the human genome -Copy number variation in the human genome -Evolution of Homo sapiens -Genetic epidemiology in medical studies -Genetic variability of the cell function in health and disease
2. To get familiar with new directions in the field of studying genetic variability in the context of human diseases 3. To learn how to formulate scientific questions related to human genome variability in health and disease |
| Type of course | Obligatory |
| Semester/year | Winter semester 2018/2019
|
| First name/family name of the person responsible for the course | Prof. dr hab. Ewa Ziętkiewicz |
| First name/family name of the person responsible for the exam | Prof. dr hab. Ewa Ziętkiewicz |
| Format | Lecture will be held in English with usage of audio-visual equipment. Lecture will be followed by discussion |
| Basic and additional requirements | Skills in English and knowledge in molecular biology |
| Number of ECTSs | 3 ECTS |
| ECTSs summary | 1 ECTS corresponds to 25-30 hours of personal studies focused on broadening knowledge based on suggested bibliography (vide bibliography list below). |
| Method of teaching | Lectures will be held using power point presentation and a multimedia projector |
| Method of evaluation | Written exam |
| Prerequisite for passing | Positive score at the exam |
| Topics
|
-Mechanisms how genetic variability arises and how it spreads within populations
-Evolution of sex chromosomes -History of genes and history of populations -Role of selection in creating genetic diversity profiles -Diversity of the human genome -Diversity of repetitive elements within the genome -Evolution of Homo sapiens in the context of genetic diversity in the modern human populations -Practical applications of genomic diversity -Some aspects of genetic bases of functional modulation of the cell in health and disease -Mechanisms and factors shaping the genetic variability -Evolution of sex chromosomes -History of genes and history of populations -Role of selection and demography in shaping genetic diversity profiles -Evolution of the human genome -Repetitive elements in the human genome -Evolution of Homo sapiens in light of the genetic diversity in modern human populations -Genetic epidemiology in medical and forensic studies -Genetic bases of the variability of the cell function in health and disease |
| Additional material
|
Presentation of each lecture in PDF format
Bibliography related to each lecture
|
| Bibliography
|
LL Cavalli-Sforza & Bodmer The Genetics of Human Populations. Dover Publications (2013)
ES Tobias, M Connor & M Ferguson-Smith. Essential Medical GeneticsEssential Medical Genetics. Wiley-Blackwell (2011). DL Hartl & AG Clark. Principles of population genetics. Sinauer Associates (2006) KR Veeramah & MF Hammer. The impact of whole-genome sequencing on the reconstruction of human population history. Nature Reviews| Genetics 15:149-161 (2014). S Eggers & A Sinclair. Mammalian sex determination—insights from humans and mice. Chromosome Research 20:215–238 (2012). BJ Lesch and DC Page. Genetics of germ cell development. Nature Reviews Genetics 13:781-794 (2012). N Naidoo, Y Pawitan, R Soong, DN Cooper and CS Ku. Human genetics and genomics a decade after the release of the draft sequence of the human genome. Human Genomics. 5:577–622 (2011). MM Matzuk & DJ Lamb. The biology of infertility: research advances and clinical challenges. Nature Medicine 14:1197-1213 (2008). N Powles-Glover. Cilia and ciliopathies: Classic examples linking phenotype and genotype: An overview. Reproductive Toxicology 48:98–105 (2014). Zietkiewicz, Witt, Daca, Żebracka-Gala, Goniewicz, Jarząb & Witt. Current genetic methodologies in the identification of disaster victims and in forensic analysis. J Appl Genetics 53:41–60 (2012).
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