Rare diseases are more common than you might think.

A rare disease is a condition that affects a small percentage of the population, typically fewer than 1 in 2,000 people.

Over 300 million people worldwide live with a rare disease, meaning 1 in 10 people are affected. Yet because each individual disease affects so few people, many go undiagnosed for years.

There are over 7,000 known rare diseases and over 80% have a genetic origin, meaning they are caused by errors in a person’s DNA.

Mitochondrial disease is an example of a rare disease. It occurs when the body’s cells can’t produce enough energy to function properly, affecting any organ at any time. For those living with it, the impact can be unpredictable and devastating.

On average, it takes more than four years for someone with a rare disease to receive a diagnosis – four years of uncertainty, misdiagnoses and worry.

This is why awareness and investment in rare disease research is so critical. The LifeArc Centre for Rare Mitochondrial Diseases is dedicated to changing this reality, bringing together leading scientists, clinicians and advocates to drive progress and improve lives.

Led by Professor Patrick Chinnery, alongside co-leads Professor Mike Hanna, Professor Rita Horvath, Professor Robert Taylor and our very own Chief Operating Office, Clare, the centre is focused on three key areas: 

1. Faster more accurate diagnosis – improving genetic testing and diagnostic tools to help patients receive faster and more accurate diagnoses.
2. Tracking disease progression – identifying biomarkers, which are measurable signs of disease that can help track progression and treatment effectiveness.
3. Developing new treatments – developing and testing new therapies, ensuring they are safe and effective before moving to clinical trials.

To understand the impact of rare diseases and the journey many patients face, watch this video that explains the challenges of diagnosing and treating rare diseases, and how these efforts are paving the way for a brighter future for those affected.

When it comes to mitochondrial disease, the LifeArc Centre is making change happen every day, shaping the future of treatment to offer hope to those who need it most.

Rare Disease Day is a chance for all of us to raise awareness and generate change for every single person living with a rare disease. Join us in raising awareness this Rare Disease Day – please share, support and help drive change for those living with rare diseases.