Mitochondrial diseases are a group of rare, genetic disorders that impair the body’s ability to generate energy at the cellular level. Collectively, they are among the most common inherited metabolic conditions, affecting approximately 1 in 4,300 individuals worldwide.
Mitochondrial diseases can impact multiple organ systems, including the brain, muscles, heart and liver, often leading to progressive, life-limiting complications. Despite advances in genomics and clinical research, there are still no definitive cures, and treatment options remain limited.
In an interview with Xtalks, Liz Curtis, CEO and Founder of The Lily Foundation, reflected on how the organization is working to address these gaps through patient support, improved diagnostics and a long-term vision to transform mitochondrial disease research and care.
Her perspective reflects both the progress made in the field and the structural challenges that continue to shape how mitochondrial disease is diagnosed, studied and treated.
Addressing the Gaps Families Face After Diagnosis
The Lily Foundation was established following the death of Curtis’s daughter, Lily, from a mitochondrial disease. At the time of diagnosis, Curtis and her family were told there were no treatments, no cures and limited understanding of the condition.
After an unexpected period during which Lily survived for six months following critical care, Curtis described the profound lack of accessible support and information available to families navigating the disease.
“There just wasn’t anything out there really… and everything on the internet had been written, what felt like, for doctors by doctors,” she said.
This gap between clinical knowledge and patient-accessible information became a defining motivator.
“We set the charity up after Lily died with the aim to make sure that people don’t face mitochondrial disease on their own,” Curtis explained.
Today, the Foundation’s mission centers on supporting families, raising awareness and funding research to enable better diagnostics, treatments and ultimately cures.
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Advancing Diagnostics Through Genomics and Precision Medicine
Diagnostics has been a central focus of The Lily Foundation’s work, driven by early challenges in identifying the genetic basis of mitochondrial disease.
At the time of Lily’s diagnosis, testing was highly fragmented, with samples sent across multiple laboratories internationally and no clear pathway to a confirmed genetic result. This lack of diagnostic certainty not only limited clinical understanding but also constrained reproductive decision-making for affected families.
Curtis emphasized the broader implications of this gap:
“If we can’t diagnose this or get a genetic diagnosis for these conditions, how are we ever going to find treatments or cures for them?”
In response, the Foundation supported early gene testing initiatives that evolved alongside advances in sequencing technologies into exome sequencing programs. Elements of this work have since been adopted within NHS genomic services, improving the availability of genetic testing for patients with suspected mitochondrial disease.
Building on this progress, The Lily Foundation is now funding a precision diagnostics project in collaboration with leading NHS mitochondrial centres, including University College London Hospitals. The initiative targets patients who remain undiagnosed after standard NHS testing, using advanced data analysis and bioinformatic approaches to identify genetic causes that may not be detected through routine methods.
The project is currently expanding across multiple UK sites and aims to significantly improve diagnostic rates.
Bridging the Gap Between Discovery and Treatment
While diagnostic tools have advanced, Curtis said a major challenge remains: moving promising rare disease research from early discovery into later-stage development.
The Lily Foundation has long provided seed funding for projects exploring potential treatments for mitochondrial disease. But like many rare disease organizations, it has seen promising early work reach a point where the next stage of funding is harder to secure.
That experience has prompted the Foundation to look more closely at how it can help research move beyond the initial proof-of-concept stage and toward translational and clinical development.
The challenge is not unique to mitochondrial disease. Across rare diseases, small patient populations, limited natural history data and fragmented research infrastructure can make it difficult to scale studies, attract investment and design trials that generate meaningful evidence.
Building a More Connected Research Infrastructure
To help address these barriers, The Lily Foundation has outlined a long-term vision for a UK-based mitochondrial disease research institute.
Rather than a single physical site, the institute is envisioned as a virtual network that connects clinicians, researchers, patient data and research resources across the country.
A national patient registry integrated within the NHS would form a core part of this model. The goal is to capture a clearer picture of who is living with mitochondrial disease, where patients are located, when they are diagnosed and how their disease progresses over time.
The vision also includes linked bioresources and an animal model hub, giving researchers more efficient access to biological samples and disease models that are currently dispersed across institutions.
“At the moment, [resources are] just sitting in various different places… we want to bring that together,” Curtis said.
The Foundation also plans to support data integration and analytical capabilities, including AI, to help researchers make better use of clinical and biological information.
If successful, the model could help reduce duplication, connect expertise and create a more coordinated research ecosystem for mitochondrial disease.
Collaboration Across the Rare Disease Ecosystem
For Curtis, collaboration is central to making progress in rare disease.
Mitochondrial disease shares many of the same challenges seen across other rare conditions, including delayed diagnosis, limited treatments, small patient populations and the isolation that families often experience after diagnosis.
“In the rare disease space, all of our challenges are the same… the more we can work together, the better,” she said.
The Lily Foundation already works with organizations such as Genetic Alliance and other advocacy groups to share knowledge and align efforts across the rare disease community.
The proposed institute is intended to build on that spirit of collaboration by offering shared infrastructure while allowing individual organizations to maintain their own missions and areas of focus.
A Model That Could Extend Beyond the UK
Looking ahead, Curtis sees the institute as a model that could potentially be adapted in other countries and across other rare diseases.
By creating a more coordinated way to access patient data, research infrastructure and expertise, the approach could help address one of the most persistent barriers in rare disease research: limited patient numbers.
A more integrated framework could also support clinical trial planning, endpoint development and broader research efficiency, particularly in areas where fragmented data and small cohorts continue to slow progress.
How the Life Sciences Community Can Support Progress
Curtis also emphasized the importance of engagement from the broader life sciences ecosystem, including pharmaceutical companies, biotech firms, academic researchers and healthcare stakeholders.
Funding remains a critical need, but she said The Lily Foundation is also looking for expertise, practical knowledge and partners who have experience building the kinds of infrastructure needed to support rare disease research.
“Funding is a big issue… but it’s not just funding, is it? It’s expertise and knowledge,” she said.
A more coordinated research infrastructure could also make mitochondrial disease research more attractive for clinical development by improving access to patient populations, data and specialist expertise.
As Curtis emphasized, progress will depend not only on scientific advances, but also on the ability of stakeholders across the ecosystem to collaborate, share knowledge and build systems that can sustain innovation over time.
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