How does genetic variation lead to a rare disease?

In the world of rare diseases, navigating the diagnostic journey can often feel like a complex puzzle. With 72% of rare diseases being genetic in nature, obtaining an accurate diagnosis is crucial for patients and their families. However, the landscape of genetic testing and diagnosis can be daunting, filled with new terminology and processes.

This course aims to give patient organisations a better understanding of how a genetic variation can lead to a rare disease.

Before you start on this course, we highly recommend first completing the course ‘Introduction to Genetics’ which will provide you with important background information on genetics and genomics. Once you are equipped with a basic understanding of genetics, we invite you to follow this course to learn more about how genetic variation can lead to a rare disease!

With thanks to:

Costello Medical provided pro-bono support in the creation of this course.

With thanks to the Funders of The Empowerment Programme 2024

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Resource type

Course



Skill level

Beginner



Duration

Est. 90 minutes



Last updated

May 2024



Resource type

Course



Skill level

Beginner



Duration

Est. 90 minutes



Last updated

May 2024

What will you learn in this course?

Introduction to DNA, genes and chromosomes
Monogenic versus polygenic conditions
DNA replication, transcription and translation
Chromosomes, fertilisation and reproduction
Types of DNA mutations

Mutations in coding versus non-coding DNA regions
Inherited DNA mutations
Spontaneous DNA mutations
Introduction to chromosomal abnormalities

Who is this course for?

This course is designed for all patient organisations, patients and rare stakeholders who want to gain a basic understanding of genetics. Once the basics of genetics are understood, patient groups, patients and rare stakeholders can better comprehend what diagnostics, advanced therapies and inclusive communications around genetics mean to them and their community.