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EB is a rare condition
EB is classified as a rare condition or disease; this means that fewer than 1 in 2000 people (0.05%) will be affected by it. This also means that there are significantly fewer dedicated EB researchers than for cancer or heart disease for example. It also means that investment in a new EB treatment that might benefit only a small number of people is harder for pharmaceutical companies to justify commercially.
For these reasons people living with rare conditions such as EB can benefit greatly from repurposing existing treatments.
Vaccines and treatments for COVID-19, for example, have made huge profits because so many millions of people have used them. To make a new treatment involves investing a lot of money up front and pharmaceutical companies plan to get that money back by a lot of people using the treatment.
Our research strategy takes account of the status of EB as a rare condition. Understanding the causes of EB and repurposing treatments that are already safely in use by people with other similar conditions is a key part of our strategy.
EB is one of more than 6000 different rare conditions that add up to affect more than 1 in 20 people (5%) in the UK. The individual conditions are rare, but DEBRA UK is a member of the organisation Genetic Alliance that brings people living with rare conditions together through the Rare Disease UK project to amplify their individual voices.
DEBRA UK is a Charity Partner of Rare Revolution Magazine that aims to bring about a dramatic and wide-reaching change in conditions and attitudes for the rare disease community.
The UK Rare Diseases Framework set out a shared vision for improving the lives of people living with rare diseases across the UK. During 2022, each of the 4 UK nations published an action plan, detailing how these priorities would be addressed:
- England Rare Diseases Action Plan
- Northern Ireland Rare Diseases Action Plan
- Scotland Rare Disease Action Plan
- Wales Rare Diseases Action Plan 2022-2026
In the UK, over 3.5 million people are affected by conditions defined as rare and these can be both life-limiting and life-threatening. They mostly affect children and they and their families can face a lifetime of complex care with huge impacts on education, financial stability, mobility and mental health. The UK Rare Diseases Framework sets out the importance of providing the best possible care and highlights four priorities to be addressed by the action plans:
- Ensuring patients get the right diagnosis faster
- Increasing awareness of rare diseases among healthcare professionals
- Better coordination of care
- Improving access to specialist care, treatments and drugs
The UK Rare Diseases Framework was supported by a survey of over 6000 people affected by rare diseases who shared their experiences in 2021.
Image credit: Darwin Hybrid Tulip Mutation, by LepoRello. Licensed under the Creative Commons Attribution-Share Alike 3.0 Unported license.