Introducing the UK Mitochondrial Disease Research Institute

Families affected by mitochondrial disease today still face uncertainty, limited treatment options and the lack of a cure for the condition. By establishing the UK Mitochondrial Disease Research Institute, The Lily Foundation hopes to improve how rare mitochondrial diseases are understood and treated.

The Institute will create a nationally coordinated, patient-driven ecosystem, bringing together people, data and infrastructure to accelerate research. The aim is to ensure that promising science can translate into tangible change for patients and families.

From personal loss to a national mission

The origins of this work are deeply personal. The Lily Foundation was established by Liz Curtis following the loss of her baby daughter, Lily, to mitochondrial disease in 2007. At the time of Lily's diagnosis, Liz and her family were told there were no treatments, no cure and limited understanding of the condition.

In the months that followed, they encountered a profound lack of accessible information and support.

'There just wasn't anything out there,' recalls Liz. 'Everything on the internet felt like it had been written by doctors, for doctors.'

This experience revealed a critical gap between clinical knowledge and what patients and families actually need. The charity was created to ensure that no one faces mitochondrial disease alone, with a mission centred around supporting families, raising awareness and funding research to enable better diagnostics, treatments and, ultimately, a cure.

Building on two decades of progress

Since its foundation almost 20 years ago, The Lily Foundation has become the UK's leading mitochondrial disease charity. It is trusted by patients and families and works closely with clinical and research communities.

The Foundation has played a significant role in advancing diagnosis and research, particularly in the early days when identifying the genetic basis of mitochondrial disease was complex and fragmented. At that time, testing pathways were unclear, often involving multiple laboratories across different countries, with no guarantee of a definitive result.

Recognising that diagnosis is the foundation of progress, the charity supported early gene-testing initiatives that helped drive the adoption of sequencing technologies. Today, elements of that work are embedded within NHS services, improving access to genetic testing for patients across the UK.

More recently, the charity has funded a large-scale precision diagnostics programme in collaboration with University College London Hospital (UCLH). This initiative focuses on patients who remain undiagnosed after standard testing, using advanced data analysis and bioinformatics to uncover previously undetectable genetic causes.

A new model for national co-ordination

Despite advances in diagnostics, a major challenge remains: bridging the gap between early discovery and real-world treatments.

Like many rare diseases, mitochondrial disease research is often slowed by small patient populations, limited natural history data and fragmented infrastructure. Promising early-stage research can struggle to progress to later-stage development, where treatments can be tested and, ultimately, delivered.

This is where the UK Mitochondrial Disease Research Institute comes in.

The Institute represents a new approach in how mitochondrial disease research is organised in the UK.

Rather than being a single physical centre, it will function as a connected national network, linking clinicians, researchers, patient data and biological resources across existing institutions.

The aim is to create the infrastructure that can bring together resources and expertise that are currently spread across the country. This includes:

• A national patient registry integrated with the NHS, to build a clearer picture of who is affected, where patients are located and how the disease progresses.
• Linked bioresources, ensuring biological samples are accessible rather than dispersed across institutions.
• An animal model hub, enabling more efficient research and testing.
• Data integration and advanced analytics, including AI, to unlock insight from clinical and biological data.

By connecting these elements, the Institute aims to reduce duplication, improve collaboration and create a more efficient pathway from research to treatment.

A clear vision for change

At its core, the Institute is driven by a simple but ambitious vision: a world without mitochondrial disease.

Achieving this will require the UK's expertise in mitochondrial disease to work in a more connected way, bringing together research, clinical care and patient insight. The goal is to shorten the long and uncertain journey from diagnosis to discovery and, ultimately, to the delivery of life-changing treatments.

Leading this vision is Professor Mike Hanna, a consultant neurologist at UCLH and globally recognised expert in mitochondrial disease. With decades of experience spanning the NHS, academia, and the charitable sector, he brings extensive experience of translating scientific discovery into real-world impact.

Collaboration is the key

Progress in rare disease depends on collaboration. Many of the challenges faced in mitochondrial disease – delayed diagnosis, limited treatments and small patient populations – are shared across the wider rare disease community.

The Institute is designed to build on existing partnerships and create a platform where organisations, researchers and clinicians can work together more effectively.

It will also engage the broader life sciences ecosystem, including pharmaceutical and biotechnology companies, academic institutions and healthcare stakeholders. While funding remains critical, The Lily Foundation is equally focused on attracting expertise, infrastructure knowledge and strategic partnerships.

A more coordinated research environment could also make mitochondrial disease a more viable area for clinical development, improving access to patient populations, data and specialist knowledge.

This is why the establishment of the UK Mitochondrial Disease Research Institute is such an important milestone. It marks the beginning of a collective effort to change the future of mitochondrial disease treatment. This vision is bigger than any one organisation, but The Lily Foundation is proud to be helping lead the way.

Help shape the future of mitochondrial disease research

The Lily Foundation is in the process of appointing senior leaders to the executive board. Once this phase is complete, the next stage will embed these experts into their roles, allowing them to shape the Institute's core scientific themes and lead the UK into a transformative new era of mitochondrial research.