Louise Fish
Chief Executive, Genetic Alliance UK
Around 3.5 million people are living with rare, genetic and undiagnosed conditions in the UK. Their voices must be heard loud and clear when strategic directions and priorities for rare diseases are being set by policymakers.
While rare, genetic and undiagnosed conditions are individually rare, around 3.5 million people living with these conditions in the UK.
Individually rare, collectively common
Eight out of 10 rare diseases have a genetic origin. The most common genetic conditions such as sickle cell disease affect around 15,000 people in the UK, with around 300 babies born with the condition each year.
Some genetic conditions affect just one family in the UK and a handful of people across the globe. Each year, around 6,000 children are born in the UK with a genetic condition so rare that it does not have a name because there is no test to diagnose it, or the genetic cause has not been discovered yet (known as a ‘syndrome without a name’ or SWAN).
Each year, around 6,000 children are born in the UK with a genetic condition so rare that it does not have a name.
Strong voices
Genetic Alliance UK plays a vital role in championing the voices of 3.5 million people living with genetic, rare and undiagnosed conditions in the UK, their families and the amazing charities and support groups that advocate for them.
We are driving delivery of the commitments in the Government’s UK Rare Diseases Framework 2021 that set out how the lives of people with rare conditions can be improved over the next five years. The framework focuses on four key priorities to transform lives: faster diagnosis, better coordination of care, increasing awareness among health and care professionals and improving access to treatments and care.
Genetic Alliance UK makes sure that the voices of people living with rare, genetic and undiagnosed conditions are heard in the development of each individual Rare Disease Framework action plan for England, Scotland, Wales and Northern Ireland.
Transforming care
We also ensure these same voices are shaping the development of NHS England’s NHS Genomics Strategy, which will set the strategic direction and priorities for genomics over the next three to five years. Scientific breakthroughs have the potential to be transformative, but only if discoveries in the lab lead directly to practical improvements in diagnosis, treatment and care for individuals and families living with genetic conditions.
When someone is born with a life-long rare, genetic or undiagnosed condition, they and their family need excellent care and support throughout their lifetime. Genetic Alliance UK is determined to transform the care provided to 3.5 million people in the UK so they can live their lives to the fullest.
