- Timetable of the lecture “Human Genome: Evolution and Variability in Health and Disease” – winter semester 2022/2023
- SYLLABUS of the lecture “Human Genome: Evolution and Variability in Health and Disease” – winter semester 2022/2023
Human Genome: Evolution and Variability in Health and Disease
Winter semester 2022/2023
Lecture will be held on Wednesdays in seminar hall of the Institute of Human Genetics Polish Academy of Sciences, Strzeszyńska St 32, Poznań.
| Date | Topic |
| 26 October 9:00 -10:30 |
Mechanisms shaping the genetic variability – 2h Prof. Ewa Ziętkiewicz, PhD |
| 9 November 9:00-10:30 |
Selection and demography in shaping population profiles – 2h Prof. Ewa Ziętkiewicz, PhD |
| 16 November 9:00 -10:30 |
Copy number variation in the human genome – 1h Prof. Maciej Giefing, PhD Mobile elements in the human genome part – 1h |
| 7 December 9:00 -10:30 |
Variability of the mitochondrial genome – 1h Evolution of Homo sapiens in light of the genetic studies – 1h Prof. Ewa Ziętkiewicz, PhD |
| 13 December 13:00 -14:00 |
Regulatory noncoding sequences in the human genome – 2h Agnieszka Dzikiewicz-Krawczyk, PhD |
| 18 January 9:00 -10:30 |
Genetic epidemiology in medical studies – 2h Prof. Ewa Ziętkiewicz, PhD |
| 25 January 9:00 -10:30 |
Genetic epidemiology in forensic studies – 2h Patrycja Daca Roszak, PhD |
| 1 February 9:00-10:30 |
Genetic variability and the cell function in health and disease part 1 – 2h Małgorzata Dawidowska, PhD |
| 8 February 9:00-10:30 |
Genetic variability and the cell function in health and disease part 2 – 2h Zuzanna Bukowy Bieryłło, PhD |
| 15 February 9:00 -10:30 |
Evolution and pathology of sex chromosomes – 2h Prof. Jadwiga Jaruzelska, PhD |
Winter semester 2022/2023
(Lectures will be held on Wednesdays starting on 26 October 2022 in lecture hall of the Institute of Human Genetics Polish Academy of Sciences)
| Course | Human Genome Evolution and 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 evolution and 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 -Evolution of Homo sapiens in light of the genetic studies -Copy number variation in the human genome -Mobile elements in the human genome -Regulatory noncoding sequences in the human genome -Mitochondrial haplogroups -Genetic epidemiology in forensic studies -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 evolution and variability in health and disease |
| Type of course | Obligatory |
| Semester/year | Winter semester 2022/2023 |
| 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 PowerPoint 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 -Role of selection in creating genetic diversity profiles -Evolution of Homo sapiens in the context of genetic diversity in the modern human populations -Diversity of repetitive elements within the genome (copy number variation, mobile elements) -Regulatory noncoding sequences in the human genome -Practical applications of genomic diversity -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). |