From Disease to Genes and Back

Human genetics explores the genetically determined similarities and differences among human beings. Human genetics encompass a variety of connected fields such as molecular genetics, genomics, population genetics and medical genetics. Study of human genetics can help in answering questions about inheritance and development of different human traits/phenotypes. The field of medical genetics is currently one of the fastest developing ones. Thanks to new technologies such as next generation sequencing the field received a new boost in the last two decades.

Almost any human disorder has a genetic component in it. This genetic component may vary from 100% for so-called monogenic disorders to much smaller percentage for complex ones. Understanding how variations of an individual’s genome relates to disease risk and treatment efficiency is very important. It may guide disease diagnostics and prognostics, and may help  developing new treatments.

The overall goal of this course is to describe how researchers find genes responsible for different diseases, and how this information is used to understand and fight these diseases. You will learn about current approaches for finding genetic variants underlying monogenic (Mendelian) diseases and variants responsible for complex or multifactorial ones. Furthermore it will be discussed how identification of genes and variants in the genome makes it possible to understand how variation can lead to disease. During the last week of the course we will talk more about practical use of genetic findings.

35 видео 5 проверочных заданий 2 творческих задания
Запишитесь на бета-тестирование. Начало 25.09.2017

Программа курса

1. Course introduction
2. Learning objectives
3. Are you ready for this week? Recommended pre-reading
4. Anatomy of the human genome
5. Identifying functionally important elements in the human reference genome
6. Genetic polymorphism
7. Interrogating genetic variation
8. Reading. Recommended reading
9. Week 1 conclusion
10. Glossary Week 1
1. Learning objectives
2. Are you ready for this week? Recommended pre-reading
3. Introduction to genetics of populations
4. Hardy-Weinberg equilibrium
5. Linkage disequilibrium
6. Natural selection
7. Genetic drift
8. Genetic structure
9. Recommended reading
10. Week 2 conclusion
11. Glossary Week 1–2
1. Learning objectives
2. Are you ready for this week? Recommended pre-reading
3. Introduction to monogenic disorders
4. Linkage analysis. Family studies
5. NGS to study Monogenic disorders — part I
6. NGS to study Monogenic disorders — part II
7. NGS to study Monogenic disorders — part III
8. Recommended reading
9. Week 3 conclusion
10. Glossary Week 1–3
1. Learning objectives
2. Are you ready for this week? Recommended pre-reading
3. From linkage to association gene-mapping
4. Introduction to genome-wide association studies. Historical overview
5. GWAS nowadays. Imputations
6. Analysis of directly genotyped and imputed data. Significance of GWAS
7. Population stratification and its consequences
8. Analysis of genetically structured populations
9. Quality control of GWAS array data
10. Meta-analysis of GWAS results: practical details
11. Week 4 conclusion
12. Glossary Week 1–4
1. Learning objectives
2. Are you ready for this week? Recommended pre-reading
3. International efforts on the functional annotation of the human genome
4. Cystic Fibrosis — a story of human genetics
5. The challenges of BRCA1/BRCA2 testing
6. Mendelian tricks: trinucleotide repeat expansions
7. Glycans and disease. The MODY3 story
8. Finding causal variants for multifactorial disorders: from p values to biology
9. Identifying causative genes. (MG). Integration of the genomic data
10. The use of model systems to understand the pathogenesis of disease
11. Multifactorial disorders in clinical practice
12. Applications of the medical genetics findings
13. Week 5 conclusion
14. Glossary Week 1–5
1. Learning objectives
2. Assay description
3. Peer review criteria
4. Future direction/perspectives of medical genomic
5. Additional literature to read
6. Course conclusion


Marianna Bevova

Director of the graduate school, GIGA, Liege, Belgium.

Yurii Aulchenko

Group leader, Faculty of Natural Science, Novosibirsk State University, Russia.

Michel Georges

Research Director and Group Leader, GIGA, Liege, Belgium. 

Gert Matthijs

Center for Human Genetics, University of Leuven, Belgium.

Lennart Karssen

Owner and Chief Computational Scientist at PolyOmica, Utrecht, The Netherlands.

Sodbo Sharapov

Junior Researcher, Novosibirsk State University, Russia.

Yakov Tsepilov

Senior Researcher, Novosibirsk State University, Russia.

Natalia Aulchenko

Project manager, Novosibirsk State University, Russia.

Как будет проходить обучение

Как только начнется курс, зарегистрировавшиеся участники получат приглашение на электронную почту.
В зависимости от формата обучения курс будет доступен сразу или каждая глава будет открываться согласно расписанию.
В курсе предусмотрены проверочные задания, которые имеют строгие сроки выполнения и влияют на получение сертификата.
Во время обучения вы можете общаться с сокурсниками на форуме.
Запишитесь на бета-тестирование. Начало 25.09.2017

You may take this course if you are:
- bachelor level student in health/biomedicine/biology programs
- acquainted with the basics: molecular biology, genetics and statistics
- health professional
- curious about the field of human genetics

Длительность курса
6 weeks
Стоимость и условия участия
Бесплатно для бета-тестеров
Новосибирский государственный университет