From Disease to Genes and Back

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.
53 lessons with assignments
Free schedule
Learning via chatbot
Certificate of completion
Sign up for the course for free. Learning will start in autumn 2022
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About the course
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.

Target audience

  • Bachelor level students in health/biomedicine/biology programs who are acquainted with the basics: molecular biology, genetics and statistics
  • For health professionals this course will provide the means for reviewing and updating knowledge in human/medical genetics
  • Those who are curious about the field of human genetics, if they are willing to commit time not only to all assigned lectures, exercises and readings but also to the additional reading provided before each of the blocks

What will you learn

  • Сurrent approaches for finding genetic variants underlying monogenic (Mendelian) diseases and variants responsible for complex or multifactorial ones
  • How identification of genes and variants in the genome makes it possible to understand how variation can lead to disease
  • Practical use of genetic findings
AUTHORS
Dr. Marianna Bevova
Director of the graduate school, GIGA, Liege, Belgium
Dr. Yurii Aulchenko
Group leader, Faculty of Natural Science, Novosibirsk State University, Russia
Prof. Michel Georges

Research Director and Group Leader, GIGA, Liege, Belgium

Prof. Gert Matthijs
Center for Human Genetics, University of Leuven, Belgium
Dr. Lennart Karssen
Owner and Chief Computational Scientist at PolyOmica, Utrecht, The Netherlands
M. Sc. Sodbo Sharapov
Junior Researcher, Novosibirsk State University, Russia
PhD Yakov Tsepilov
Senior Researcher, Novosibirsk State University, Russia
M. Sc. Natalia Aulchenko
Project manager, Novosibirsk State University, Russia
Course program
Week 1: Introduction. Human genome
  • Course introduction
  • Learning objectives
  • Are you ready for this week? Recommended pre-reading 
  • Anatomy of the human genome 
  • Identifying functionally important elements in the human reference genome
  • Genetic polymorphism
  • Interrogating genetic variation
  • Reading. Recommended reading 
  • Week 1 conclusion
  • Glossary Week 1
Week 2: Populational genetics
  • Learning objectives
  • Are you ready for this week? Recommended pre-reading 
  • Introduction to genetics of populations
  • Hardy-Weinberg equilibrium
  • Linkage disequilibrium 
  • Natural selection  
  • Genetic drift 
  • Genetic structure
  • Recommended reading 
  • Week 2 conclusion
  • Glossary Week 1–2
Week 3: Mendelian disorders
  • Learning objectives
  • Are you ready for this week? Recommended pre-reading 
  • Introduction to monogenic disorders
  • Linkage analysis. Family studies
  • NGS to study Monogenic disorders — part I
  • NGS to study Monogenic disorders — part II
  • NGS to study Monogenic disorders — part III
  • Recommended reading 
  • Week 3 conclusion
  • Glossary Week 1–3
Week 4: Complex disorders
  • Learning objectives
  • Are you ready for this week? Recommended pre-reading 
  • From linkage to association gene-mapping
  • Introduction to genome-wide association studies. Historical overview
  • GWAS nowadays. Imputations 
  • Analysis of directly genotyped and imputed data. Significance of GWAS
  • Population stratification and its consequences
  • Analysis of genetically structured populations
  • Quality control of GWAS array data 
  • Meta-analysis of GWAS results: practical details
  • Week 4 conclusion
  • Glossary Week 1–4
Week 5: From variant to function. Application of the genomic findings
  • Learning objectives
  • Are you ready for this week? Recommended pre-reading
  • International efforts on the functional annotation of the human genome
  • Cystic Fibrosis — a story of human genetics  
  • The challenges of BRCA1/BRCA2 testing 
  • Mendelian tricks: trinucleotide repeat expansions
  • Glycans and disease. The MODY3 story
  • Finding causal variants for multifactorial disorders: from p values to biology
  • Identifying causative genes. (MG). Integration of the genomic data
  • The use of model systems to understand the pathogenesis of disease
  • Multifactorial disorders in clinical practice
  • Applications of the medical genetics findings
  • Week 5 conclusion
  • Glossary Week 1–5
Week 6: Final reflection
  • Learning objectives
  • Assay description
  • Peer review criteria
  • Future direction/perspectives of medical genomic
  • Additional literature to read
  • Course conclusion
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53 lessons
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Free schedule
There are no deadlines or due dates for homework assignments. Materials are available immediately, you can start learning through the chatbot at any time and return to the course when you have time
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Certificate
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From Disease to Genes and Back
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.

What will you get

  • 53 lessons with assignments in a chatbot
  • Author’s presentation: simple, clear and with interest in the subject
  • Free schedule: no deadlines and due dates for assignments
  • All materials are available immediately, you can start learning at a convenient time
  • Professional video and modern graphics
  • Quick contact with technical support
  • Certificate of Completion

What will you learn

  • Сurrent approaches for finding genetic variants underlying monogenic (Mendelian) diseases and variants responsible for complex or multifactorial ones
  • How identification of genes and variants in the genome makes it possible to understand how variation can lead to disease
  • Practical use of genetic findings
Sign up for the course for free. Learning will start in summer 2022
Choose a messenger in which it will be convenient for you to study or leave your email so you don't miss the news
available soon