Craig Martin
CEO, Global Genes
Rare Disease Day provides an opportune moment to take stock of where we are and where we are heading in our quest toward eliminating the burdens of rare diseases.
Rare diseases represent one of the most complex, vexing and important global health challenges we face. More than 400 million people worldwide are affected by over 7,000 rare diseases. In the UK alone, more than 3.5 million people have a rare condition.
Despite impacting nearly one in 10 people on the planet, fewer than 5% of rare diseases have approved treatments. On average, it takes rare disease patients five to seven years to get a diagnosis; a lifetime for many, as more than half of all rare disease patients are children and a third of them will die by the age of five.
Developing new understandings
The massive unmet need, devasting impacts and growing numbers of newly discovered rare conditions combine to offer more than enough justification to make rare diseases a public health priority, but there are other reasons too.
Despite impacting nearly one in 10 people on the planet, fewer than 5% of rare diseases have approved treatments.
For example, more than 80% of rare diseases are genetic, making them ideal proving grounds for promising technologies such as gene therapy and gene editing. In addition, because nearly half of rare diseases are neurological, we are likely to gain a new understanding of how to effectively target and deliver therapies to the brain.
Re-evaluating health priorities
As we move from being hyper-focused on a global pandemic toward a needed re-evaluation and re-allocation of health priorities, we hope that leaders from the public and private sectors will recognise the significant gaps and opportunities that exist in rare diseases to make a meaningful impact on global health.
