A rare disease is a condition that affects fewer than one in 2,000 people. Although individual rare diseases are uncommon, they are collectively common. There are more than 7,000 known rare diseases, and new conditions continue to be identified as research advances.

Around 80% of rare diseases have a genetic cause, which is why genomic medicine plays such an important role in diagnosing and understanding these conditions. Rare diseases can also result from problems with the immune system, infections, allergies, changes to body tissues and organs, or complications that occur during development before birth.

It is estimated that one in 17 people will be affected by a rare disease at some point in their lives. In Wales, this equates to around 170,000 people, highlighting the significant impact rare diseases have on individuals, families and healthcare services.

Many rare diseases are serious, lifelong conditions that can be both life-limiting and life-threatening. Children are disproportionately affected, with around 75% of rare diseases occurring in childhood. For many families, living with a rare disease can involve navigating complex healthcare needs, lengthy diagnostic journeys and ongoing uncertainty.

The impact of a rare disease often extends beyond health. Patients and their families may face challenges relating to education, employment, finances, mobility and mental wellbeing. Access to timely diagnosis, appropriate support and coordinated care can make a significant difference to quality of life.

At AWMGS, we work with healthcare professionals across Wales and also internationally, to support the diagnosis and management of rare diseases through genomic testing, specialist expertise and research. We are committed to improving outcomes for patients and ensuring that the experiences and voices of people living with rare diseases help shape the services and care they receive. That's why we have set up the Rare Disease Research Network and Digital Rare Care Centre.