Pharmacogenomics: Remind me of the science

Last updated: Thursday, March 21, 2024

If some time has passed since you have had to think about genes, chromosomes, proteins and all things in between, then you may find it helpful to refresh your memory about some of the basics. Fortunately the NHS England Genomics Education website has a range of excellent resources including short videos and a genomics glossary to help you get back up to speed quickly. We have signposted to some of the most relevant content below.

You can skip to the next page if you feel confident with this fundamental knowledge.

What is genomics? 
Includes a video on the structure of DNA, definition of a gene and a variant, how genomics differs to genetics, and how the order of the 3 billion letters in a human genome is read, compared to a reference genome and then applied to individual patients. 

Short, animated video describing the role of genes, where a genome is found in the body and how the small variation between the genomes of all humans is of interest in the prediction, prevention, diagnosis and treatment of disease. 

Revision of how paternal and maternal DNA combine to form an offspring’s genome, and the significance of (potential) parents carrying a genomic variant.

How are proteins synthesised? 
Refresh your knowledge about how amino acids and proteins are made using DNA and mRNA and transcription and translation.

A useful page that covers the concepts of penetrance and expressivity.

In addition to the NHS England Genomics Education website, the BBC bitesize website also has some useful content including:

The genome 
Several pages of text covering the genome, variation, DNA structure, protein synthesis, and mutations. 

Includes a short video explaining genetic inheritance, dominant and recessive alleles, and homozygous and heterozygous alleles.

You may also find it helpful to use the glossary on the NHS England Genomics Education website to revise any terminology as you work through this tutorial.