Introduction to genetics
With 80% of rare diseases having a genetic basis, it’s important for patient groups and advocates to have a basic understanding of how genetics work.
Understanding the basics of genetics helps rare disease patient groups and their community make informed decisions about their care and treatment options.
Groups can help their community assess their risk for certain rare, genetic conditions and decide whether genetic testing is right for them.
Our guide helps groups and advocates understand a human’s genetic makeup by starting small with DNA and genes before progressing through proteins and chromosomes.
We then explore genetic variants and inheritance before tackling genetic testing and the types of genetic tests that are available today.
Knowing one’s genetic makeup and susceptibility to certain conditions is essential for family planning. We can’t stress the value and importance of genetic counsellors enough, especially when wanting to start a family.
Genetic counsellors can reduce the anxiety, uncertainty and fear parents face when considering the risks and potential outcomes that come with having children.
Understanding the basics of genetics is key to your advocacy journey, so enroll in our introductory course to gain the background knowledge you need to explore diagnostics, advanced therapies and inclusive communications around genetics!
With thanks to:
My name is Alice and I have really enjoyed volunteering at Beacon over the summer.
I became interested in the genetics of rare disease after a close family member was diagnosed with a very rare neurodevelopmental disorder, after a long diagnostic odyssey.
I have recently finished a master’s degree in genomics, where I had the opportunity to study a group of rare conditions known as Mendelian Disorders of the Epigenetic Machinery, and in the future I hope to contribute to rare disease research!
With thanks to the Funders of The Empowerment Programme 2024
Resource type
Course
Skill level
Beginner
Duration
2 hours
Last updated
September 2023
Resource type
Course
Skill level
Beginner
Duration
2 hours
Last updated
September 2023
What will you learn in this course?
- How DNA, genes, proteins and chromosomes are formed
- The difference between genomics and genetics
- How genetic variants and inheritance work
- What genetic testing is and which types of genetic tests are available today
- What happens when undergoing genetic testing
- The challenges to genetic testing
- The advantages and risks of genetic testing
- The value of genetic counsellors and how to receive genetic counselling on the NHS
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.
