Rare Disease Day: Raising awareness of rare diseases, globally.

Introduction

Since 2008, 28th February (or 29th February if it is a leap year) has been an important day in the calendar for the 300 million people worldwide who are living with a rare disease, their families, and carers.

Rare Disease Day raises awareness of rare diseases and the impact they have on people’s lives around the world and helps to build an international community of diversity and unity.

Find out more about Rare Disease Day below, why it is important to show support for the cause, and what’s happening in the world of research, drug discovery and treatment to fight rare diseases.

Rare Disease Day

With rare diseases impacting the lives of hundreds of millions of people worldwide, Rare Disease Day was set up to give hope, recognition, and a voice to those people, and provide an energy and focal point from which to advocate the discovery, research, and treatment of rare diseases at local, national, and international levels.

A globally coordinated movement, Rare Disease Day has been at the heart of communities built and connected by a purpose to create equity in social opportunity, healthcare and access to diagnosis and therapies for people living with rare disease.

Every year, on the final day of February, the rarest day of the year, everyone – including individuals, families, caregivers, healthcare professionals, researchers, clinicians, policy makers, industry representatives and the public – is invited to raise awareness, spread the word far and wide and call on policy makers to make a change and improve people’s lives.

Raising awareness of rare disease is vital.

Whilst a rare disease is classed as a disease which affects 1 in 2,000 people or fewer, there are – as highlighted by Rare Disease Research UK – over 7,000 rare diseases currently known. This means that rare disease will affect 1 in 17 people during their lifetime, amounting to over 3.5 million people in the UK alone.

Rare diseases impact people of all ages; in fact 75% of rare diseases affect children, and more than 30% of children with a rare disease die before their fifth birthday.

Raising awareness of rare diseases and their impacts, through events and campaigns such as Rare Disease Day, helps to drive efforts to increase research which could lead to vital innovations in discovery, diagnosis, and treatment.

How science, medicine and technology is helping fight rare disease…

In the UK alone, huge progress has been made in the discovery of rare diseases, with over 1,000 complex new diagnoses made thanks to remarkable advances in genomic research.

For example, developments in whole genome sequencing have allowed organisations such as Genomics England to study every letter of DNA in a person’s genome – a breakthrough that gives researchers a better chance of finding and understanding changes that are responsible for causing rare disease.

There has also been an increase in the availability, speed and accuracy of testing and screening for patients, enabling faster final diagnosis and effective treatment for rare diseases. Improved access to specialist care, treatment and drugs – which are being rapidly developed as a result of extensive research and data pooling – has also included a Medicine Repurposing Programme in the UK, which identifies and progresses opportunities to use existing medicine in new ways.

And, with the rapid development of new technologies, Artificial Intelligence is becoming a prevalent part of disease research.

Second-generation AI systems are revolutionising the healthcare industry by bridging the gap between diagnosis, prognosis, and treatment for patients. These personalised systems are designed to enhance end-organ function, overcome problems of tolerance or loss of efficacy, and improve patients’ responses to chronic drugs, all from a precision medicine perspective.