What your genes say about you: how genetics is shaping healthcare

Aims

This course aims to:

• familiarise you with the timelines and key characters in the application of genetics to human health and disease 
• introduce fundamental principles of human heredity 
• provide practical experience in investigating human genetic variation 
• explore examples of how genomics is transforming health outcomes

Course content

This course will take you on a journey from the fundamental principles of inheritance through to the at-scale genomic analysis underpinning modern approaches to healthcare. Along the way, you’ll learn about the fascinating personalities that shaped our understanding. The rediscovery of the work of Gregor Mendel at the turn of the 20th century was quickly followed by Archibald Garrod’s description of a disease that followed a Mendelian inheritance pattern (alkaptonuria). Only a small number of single-gene disorders were identified over the following years, although it was apparent that a great many diseases had at least some genetic basis. While the discovery in 1953 of the structure of DNA by Watson and Crick and the information encoded therein (using Rosalind Franklin’s x-ray crystallography data) promised a new dawn in the understanding of human health and disease, it wasn’t until the completion of the Human Genome Project in the early 2000s that we had the tools to realise the promise of genetic medicine.

What to expect on this course

The course will take the form of traditional lectures supported by PowerPoints with practical tasks and quizzes to allow you to apply your knowledge. There will be plenty of space for discussion. In particular, there will be opportunities for you to perform analysis of your own using freely-available on-line resources, so bring a laptop if you want to make the most of the week. 

Course sessions

1. A (brief) history of genetics: This will cover the landmark discoveries and personalities. 

    

2. Basic Mendelian principles: It is important that you have a grasp of the fundamental ideas underpinning inheritance to help you to understand how we can use changes in our DNA to make predictions about disease. We will continue to explore these principles in the context of the key players.

    

3. The large-scale analysis of genes and genomes: In the late 1980s, scientists could determine the sequence a few hundred base pairs a day, or study how the activity of a single gene varied under different conditions (for example in health versus disease states). Technological innovation driven by the Human Genome Project means that an entire genome can now be sequenced in a few days (for a few hundred pounds) and the activity of every gene in a cell or tissue can be profiled in an afternoon. 

    

4. Human variation: Any two unrelated individuals will differ in approximately five million regions in their DNA (most of which will have no effect). We will investigate the kinds of variation that provide the plasticity upon which natural selection acts. We will consider how we are able to filter clinically-actionable information from the background “noise” of normal variation.

    

5. On the last day we’ll focus on the “needle in haystack” challenge of finding genetic changes that can inform prediction, diagnosis and management of disease. 

Learning outcomes

As a result of the course, you will gain a greater understanding of the subject and you should be able to:

• explain autosomal dominant, autosomal recessive and sex-linked patterns of inheritance 
• demonstrate understanding of the “big ideas” in genetics that have developed over the last 120 years or so 
• identify some common clinically-relevant changes in the DNA

Required reading

There is no required reading for this course. See Course materials for supplementary reading once registered.