In this episode of Genetics Unzipped, recorded at the recent Festival of Genomics in London, we find out why it’s so important to make sure that both academic and commercial research studies are done with rather than on participants.
Research into genetic conditions relies on information from patients and their families, whether that’s detailed health records or genomic data. As the tools and techniques for DNA and data analysis become cheaper and more organisations get in on this fast-growing field, it’s vital to make sure that the most valuable research resource – human lives – doesn’t get overlooked in the rush.
Fiona Copeland is the chair of a support group for UK families affected by primary ciliary dyskinesia or PCD – a rare genetic condition affecting the lungs – and is the mother of two adult sons with the condition. She explains what her role as a patient representative involves and shares her advice for how researchers can engage and involve patient groups more effectively. Her top tip? Don’t make children cry!
Finally, we hear from Shelley Simmonds, a disability rights campaigner and rare disease advocate whose son Fraser was initially given a diagnosis of Duchenne Muscular Dystrophy as a baby. When Fraser didn’t seem to be progressing as might be expected for a child with the disease, she and her family got involved in Genomics England’s 100,000 Genomes Project in search of clarity – but things turned out not to be quite so simple. Shelley talks what happens when the question “What’s wrong with my child?” has no answer.
Full transcript, links and references available online at GeneticsUnzipped.com
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