Human genetics explores the genetically determined similarities and differences between human beings. This scientific discipline encompasses a variety of related fields such as molecular genetics, genomics, population genetics and medical genetics. Study of human genetics can help to find answers to questions regarding the inheritance and development of different human phenotypes. The field of medical genetics is quickly growing and dynamically developing thanks to the new technologies such as the next-generation sequencing. Most human diseases have a genetic component. This genetic component varies by disease. Some rare diseases appear to be completely determined by the genome, whereas more common diseases arise from a complex interplay of many genes, the environment and chance. The understanding of how our genomes contribute to disease susceptibility offers the prospect of large gains: it may guide disease diagnostics and prognostics and help in developing new therapies. The overall goal of this course is to describe how the researchers find genes responsible for different diseases and how this information is used to better understand and fight these diseases. You will learn about current approaches for finding single genetic variants underlying monogenic (Mendelian) diseases and sets of variants responsible for more complex, multifactorial ones. Furthermore, you will learn how the identification of these genetic variants makes it possible to understand how the affected biological pathways lead to disease development. During the final week of the course, we will talk more about clinical applications of the genetic findings. Upon completing the course, you will be able to: - give examples of monogenic and complex disorders - recognise patterns of Mendelian inheritance of monogenic diseases; - understand and describe principles and methods of gene mapping ; - describe the main steps and principles of genome-wide association studies (GWAS); - give examples of modern technologies that are currently used to find variants underlying human diseases; - discuss the approaches to finding causative variants underlying complex disorders; - discuss the possibilities and areas of application of genetic findings.
Introduction to Monogenic Disorders
Рецензии
JQ
Dec 30, 2017
Fun and interesting course. Great review of material I had forgotten, sadly.
SZ
Mar 26, 2020
this is extremely good course and it was very helpful for my research
Mendelian or monogenic disorders are the kind of genetic disorders in humans that arise from a mutation in a single gene. These disorders run in families and can be autosomal or sex-linked depending whether the affected gene is located on autosomes or sex chromosomes, and they can also be dominant or recessive depending if one or two alleles are necessary to develop the disorder. The name “Mendelian” is used because these diseases follow simple monogenic patterns of inheritance, similar to these first studied by Gregor Mendel in pea plants. There are an estimated 8000 rare Mendelian diseases. Although each of them are very rare, collectively they affect millions of individuals world-wide. How can we find the variants and genes that are responsible for the development of these diseases? You will learn about “linkage analysis” – a technique that has been previously used for this purpose. You will also learn about Next-generation sequencing (NGS) technologies that have revolutionized the studies of Mendelian diseases in recent years.
Преподаватели
Sodbo Sharapov
M.Sc, Junior Researcher
Natalia Aulchenko
M.Sc., Project manager
Gert Matthijs
PhD, Professor
Yurii Aulchenko
PhD, Professor, Head of Theoretical and Applied Functional Genomics Laboratory
Michel Georges
PhD, Professor, GIGA Research Director
Marianna Bevova
PhD, Director of GIGA Doctoral School
Yakov Tsepilov
PhD, Senior Researcher
Lennart Karssen
PhD, Owner and Chief Computational Scientist
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