1. Timetable of the lecture “Human Genome: Evolution and Variability in Health and Disease” – winter semester 2022/2023
  2. SYLLABUS of the lecture “Human Genome: Evolution and Variability in Health and Disease” – winter semester 2022/2023

Lecture

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
Prof. Ewa Ziętkiewicz, PhD

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

 


SYLLABUS

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).