Introduction to Genomic Medicine
Geuvadis and Genomic Medicine
Identifying genetic variants by risk allele frequency and strength of genetic effect
Library construction and nanoarray formation
What does it mean ?

What is the link between genes and diseases? What are the different types of genetic diseases? What is genetic testing ? 

To find out more on these questions, and many other basic biology questions you might ask yourself,  follow the online introduction course provided by the scientific journal Nature. 

Here are the ones we have selected for you:

1. Genomes and Diseases

The Human Genome Project has revealed the entire sequence of nucleic acids, the As, Ts, Cs and Gs, in the genes of our species. However, the sequence alone actually tells us little about our biology. Now, scientists are examinig this massively long sequence for clues about how variation in our genetic sequence contributes to disease.

2. Types of Genetic Diseases

Genes play a role in many human disorders. Some rare disorders are linked to mutations in single genes that follow Mendelian inheritance patterns. Other disorders are regulated by multiple genes, or multiple genes together with the environment. Still others are the result of chromosomal abnormalities.

3. Genetic Testing

Testing for gene mutations that cause or predispose an individual to disease is not as straightforward as you might think. There are complex issues raised by how, where and when these tests are administered, as well as how the test result information can be used.

Towards a personalised genomic Medicine

Following the sequencing of the human genome[1]  and the HapMap Project[2] , several large-scale genomic projects (Link to page related projects) have been initiated to explore the relationship between selected genetic variants and disease predisposition, diagnosis and drug response.

Despite successful identifications of genetic variants associated with several common disorders through genome wide association studies (GWAS)[3] it is clear that this approach can access only a small proportion of the genomic contribution to diseases and phenotypes[4].


As a consequence, new international consortia (Link to related projects page) have been developed with the aim to extract the complete sequence information of the genome in the general population and in disease state, such as cancer and other diseases.


The full elucidation of the genetic basis of disease requires complete genomic information of both patients and healthy individuals. Thanks to high-throughput next generation sequencing (NGS) technologies

[5], geneticists will soon be able to sequence entire human genomes at an affordable price and within a short time frame, towards Personalised Genomic Medicine[6].

Read more:

[1] The International Human Genome Mapping Consortium 2001, Nature, 409:934; Venter et al. 2001, Science, 291:1304; Lander et al. 2001, Nature, 409:860

[2] International HapMap Consortium 2007, Nature, 449:851


[4] Manolio et al. 2009, Nature, 461:747

[5] Margulies et al. 2005, Nature, 437:376; Bentley et al. 2008, Nature, 456:53; McKernan et al. 2009, Genome Research, 19:1527; Pushkarev et al. 2009, Nature Biotechnology, 27:847; Drmanac et al. 2010, Science, 327:78

[6] Bentley et al. 2008, Nature, 456:53; Simpson et al. 2009, Genome Res 19:1117