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Tom’s response to his genetic diagnosis

In this video, Tom describes his reactions to receiving a genetic diagnosis, the impact of this information, and his thoughts about meeting other people with the same condition.

Preparing samples for next generation sequencing

In this video, Matt Johnson will explain the main stages of sample preparation for next generation sequencing that are common to most methodologies. Since its introduction into research and diagnostic …

How do genetic variants cause disease?

This video uses a cake-baking analogy to describe the location of DNA in the cell, how we get from DNA to protein and what happens when there is a mutation. …

Tom’s story

We’d like to introduce you to Tom. Tom is 26 years of age, he has two law degrees: an LLB Euro from the University of Exeter and a Master 1 …

From DNA to PCR product

In this video, Matt will introduce the Polymerase Chain Reaction (PCR), an important step in genetic testing that amplifies a small region of the genome. This technique was invented in …

PCR to DNA sequence

We welcome back Matt, who will introduce you to an important and popular method which is used to obtain the genetic sequence of a small region of the genome: Sanger …

From blood to DNA

In this video, Aamisha will tell you about the first stage of the laboratory process that leads to a genetic test result – DNA extraction from samples.

Dan’s story

In Week 2 we introduced you to Dan when we were discussing the use of non-genetic tests to recognise patients who may have MODY (the most common form of monogenic …

Misdiagnosis

Dan explains in the video how getting a genetic diagnosis and coming off insulin changed his life. Around 80% of patients with monogenic diabetes are initially misdiagnosed as having type …

Family Trees

Taking a good family history is a key skill which can also aid the recognition of individuals likely to have MODY. Taking a thorough family history can help identify patterns …

Sharing stories

Watch this Wellcome Trust video to find out more about neonatal diabetes, and how lives can be transformed through genetic discovery. This video has been reproduced by kind permission of …

What is the impact for clinicians?

In this video, Professor Andrew Hattersley explains the importance of making a genetic diagnosis in patients with diabetes from the clinician’s perspective.

The biggest change for us

Archive footage reproduced by kind permission of Rick Cresswell. In this video, Emma describes the impact of changing Jack’s treatment from insulin injections to glibenclamide tablets as a consequence of …

Understanding the pathophysiology

In this video, we learn how the release of insulin from pancreatic beta cells is regulated. We will find out how mutations in the genes encoding the potassium channel subunits …
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