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“It’s changed our lives”

Archive footage reproduced by kind permission of Rick Cresswell. We’d like to open with a video of Emma describing what a difference genetic testing has made for her son Jack, …

Thank you for participating

We hope you have enjoyed learning about how genomic medicine is transforming patient care in diabetes. Thank you for participating, and we hope you will continue to follow developments in …

Insurance and monogenic diabetes

We learnt in Week 1 that family history is a major risk factor for developing diabetes. But once a genetic diagnosis of monogenic diabetes has been made, unaffected family members …

Direct-to-consumer genetic testing

You may not like what your “genetic selfie” tells you. By kind permission of Penelope Dullaghan, http://penelopeillustration.com/ Obesity and exercise are the major risk factors influencing development of type 2 …

The 100,000 Genomes Project

In 2012 the UK Prime Minister, David Cameron, announced plans for the 100,000 Genomes Project. This ambitious project will deliver the sequences of 100,000 genomes from NHS patients by the …

Unsolved cases

When Genome Sequencing just isn’t enough Although next generation sequencing (NGS) allows for a comprehensive analysis of DNA from individuals with suspected monogenic disease, it does not always identify the …

Finding the cause of Tom’s rare syndrome

MDP syndrome (Mandibular hypoplasia, Deafness and Progeroid features) is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin. These are the characteristic features: mandibular …

Pre-symptomatic testing

Pre-symptomatic testing in this context is where a genetic test is offered to an individual not known to have the condition (in this case diabetes) where another family member has …

Acknowledgements

The team would like to thank the following people for their contribution to the course: Dr Pam Bowman, Academic Clinical Fellow Anna Bussell, Genetic Technologist at Royal Devon & Exeter …

Which relatives to test?

Once a monogenic cause of diabetes has been identified in one individual then other family members with diabetes should also be offered genetic testing to see if they also have …

Interpreting the Sanger sequence data

A typical electropherogram from a single PCR product is shown below. Each peak represents a single nucleotide in the DNA sequence, and each nucleotide has a different colour; A is …