Films chart the diagnostic odyssey of a patient with rare disease and their family, and the hope offered by genomic medicine
Health Education England’s Genomics Education Programme has created two short films to highlight the potential of genomic technologies to improve the care of the 3 million patients with rare diseases in the UK which are being launched to coincide with Rare Disease Day on Saturday 28 February.
The films, produced in partnership with the Department of Health, and in collaboration with rare disease charities, patient groups and clinicians, aim to raise awareness of rare disease among both healthcare professionals and patients as well as set out options in the diagnostic process.
They describe the impact of rare disease through the story of 11-year-old Lewis Jeynes who has Batten disease, a rare neurodegenerative disorder, and how genomic medicine finally helped identify the cause of his condition.
Find out more and watch the films in this blog post from Genomics Education Programme scientific adviser Dr Anneke Seller.