Patient stories: the ‘diagnostic odyssey’
- It currently takes an average of five years to diagnose a rare disease.
- Trent Beard was born following a normal pregnancy and birth, but began to develop many health problems. He was missing developmental milestones, he is autistic and has epilepsy. He is also non-verbal and can only eat formula.
- Trent has received several diagnoses throughout his life but they have all been retracted and the cause of his problems remains unknown.
- The impact on families with no diagnosis is great: it is very difficult both for children undergoing numerous tests and for parents who have to watch their child suffer and go through multiple, often traumatic, hospital visits.
- Trent and his family were eventually referred to the 100,000 Genomes Project, which we will learn about in step 1.27 and which uses whole genome sequencing to try and find answers for families like the Beards.
Whole Genome Sequencing: Decoding the Language of Life and Health
Our purpose is to transform access to education.
We offer a diverse selection of courses from leading universities and cultural institutions from around the world. These are delivered one step at a time, and are accessible on mobile, tablet and desktop, so you can fit learning around your life.
We believe learning should be an enjoyable, social experience, so our courses offer the opportunity to discuss what you’re learning with others as you go, helping you make fresh discoveries and form new ideas.
You can unlock new opportunities with unlimited access to hundreds of online short courses for a year by subscribing to our Unlimited package. Build your knowledge with top universities and organisations.