EB is a ‘rare disease’. This means that fewer than 1 in 2000 people (0.05%) will ever suffer with it and there are significantly fewer dedicated EB researchers than there are for more commonly occurring conditions such as cancer and heart disease. Investment in a new EB treatment that might benefit only a small number of people and can be harder for pharmaceutical companies to justify commercially. Because of this, people suffering from rare diseases 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 and pharmaceutical companies plan to get that money back when a treatment is used by a lot of people.

 

 

Our research strategy takes account of the status of EB as a ‘rare disease’. 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 diseases 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 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 diseases 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:

1. Ensuring patients get the right diagnosis faster
2. Increasing awareness of rare diseases among healthcare professionals
3. Better coordination of care
4. 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.