Lecture

Human Genome Evolution and Variability in Health and Disease

winter semester 2026/2027

(This lecture is obligatory)

Lecturer coordinator: prof. dr hab. Jadwiga Jaruzelska

Data Temat

14.10.2026
9:30 – 11:00

Mechanisms shaping the genetic variability (2h) 
(prof. dr hab. Ewa Ziętkiewicz)

28.10.2026
9:30 – 11:00

Selection and demography in shaping population profiles (2h)
(prof. dr hab. Ewa Ziętkiewicz)
18.11.2026
9:30 -11:00
Mobile elements in the human genome (2h)
(dr hab. Zbigniew Warkocki)
25.11.2026
9:30 -11:00
Genetic variability in non-coding sequences in the human genome (2h)
(dr hab. Agnieszka Dzikiewicz-Krawczyk
02.12.2026
9:30 -11:00

Mitochondrial haplogroups (1h) 
(dr Patrycja Daca-Roszak)

Evolution and pathology of sex chromosomes (1h) 
(dr hab. Kamila Kusz-Zamelczyk)

16.12.2026
9:30 -11:00

Genetic epidemiology in forensic studies (1h)
(dr Patrycja Daca-Roszak) 

Analysis of human intestinal microbiota (1h)
(dr hab. Marzena Skrzypczak-Zielińska)

06.01.2026
9:30 -11:00
Evolution of Homo sapiens in light of genetic studies (2 h)
(prof. dr hab. Ewa Ziętkiewicz)
13.01.2026
9:30 -11:00
Genetic epidemiology in medical studies (2h)
(dr Patrycja Daca-Roszak)
27.01.2026
9:30 -11:00
Genetic variability and cell function in health and disease part 1 (2h)
(dr Monika Drobna-Śledzińska)
03.02.2026
9:30 -11:00
Genetic variability and cell function in health and disease part 2 (2h)
(dr hab. Zuzanna Bukowy-Bieryłło)

 


SYLLABUS

winter semester 2026/2027

Lectures will be held on Wednesday starting on 14 October 2026 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 GeneticsPolish Academy of SciencesStrzeszyńska 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

-Evolution of Homo sapiens

-Genetic epidemiology in medical studies

-Genetic variability of the cell function in health and disease

-human intestinale microbiome

  1. 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 2026/2027
First name/family name of the person responsible for the course prof. dr hab. Jadwiga Jaruzelska
First name/family name of the person responsible for the exam prof. dr hab. Jadwiga Jaruzelska
Format Lecture will be held in English with usage of audio-visual equipment.
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 The course is conducted in an interactive format with active participation of PhD students
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

-human intestinal microbiome 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).