Launch of New National Research Centers Aims to Unlock Tests and Treatments for Rare Diseases

The LifeArc Translational Centres for Rare Diseases (including the LifeArc Centre for Rare Mitochondrial Diseases, LifeArc Centre for Rare Kidney Diseases, LifeArc Centre for Rare Respiratory Diseases and the LifeArc Centre for Acceleration of Rare Disease Trials) have been awarded nearly £40million over five years and will focus on areas where there are significant unmet needs. They will tackle barriers that ordinarily prevent new tests and treatments reaching patients with rare diseases and speed up the delivery of rare disease treatment trials.

The centres will bring together leading scientists and rare disease clinical specialists from across the UK for the first time; encouraging new collaborations across different research disciplines and providing improved access to facilities and training.

The LifeArc Centre for Rare Mitochondrial Diseases is a national partnership with the Lily Foundation and Muscular Dystrophy UK. It will be co-led by Professor Michael Hanna (UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery).

Mitochondrial diseases are genetic disorders affecting one in 5,000 people. They often cause progressive damage to the brain, eyes, muscles, heart and liver, leading to severe disability and a shorter life.

There is currently no cure for most mitochondrial conditions. However, new opportunities to treat mitochondrial diseases have been identified in the last five years, meaning that it’s a critical time for research development.

The new £7.5million centre will establish a national platform that will connect patient groups, knowledge and infrastructure in order to develop biomarkers and accelerate new treatments getting to clinical trial.

UCL lead, Professor Michael Hanna, said:“ Since the original discovery at Queen Square in 1988 that mutations in mitochondrial DNA can cause human disease we have pursued a strong multidisciplinary research programme to determine disease mechanisms and advance treatment opportunities. Crucially, our work is centred around patients and, in London, we lead the NHS England national highly specialised service for mitochondrial diseases.”

Professor Robert Pitceathly (UCL Queen Square Institute of Neurology), who will co-lead at UCL, said: “This new funding to establish a national translational centre is a major development and will enable our science to be translated into new biomarkers, clinical trials and ultimately treatments. A strong training component will allow us to train the next generation of researchers.”

Professor Alan Thompson Dean UCL Faculty of Brain Sciences said: “I am delighted to congratulate Professors Hanna and Pitceathly and the UCL team for securing this major collaborative award. It builds on a strong foundation of excellent genetic and neuroscience research that the new LifeArc Centre will help translate into trials and ultimately treatments to benefit patients and families globally.”

Globally, there are more than 300 million people living with rare diseases. However, rare disease research can be fragmented. Currently researchers can lack access to specialist facilities, as well as advice on regulation, trial designs, preclinical regulatory requirements, and translational project management, which are vital in getting new innovations to patients.

UCL researchers will also play a key role in the new £9.4million LifeArc Centre for Rare Respiratory Diseases. The centre will be co-led by Professor Hannah Mitchison (UCL Great Ormond Street Institute of Child Health) alongside academic partners in Edinburgh, Nottingham, Dundee, Cambridge, Southampton and the UKRI Nucleic Acid Therapy Accelerator (NATA) – with the aim of uniting children, adults and families with clinical experts, researchers, investors and industry leaders.

The LifeArc Centre for Rare Respiratory Diseases collaboration will create a UK-wide bank of anonymised tissue samples and models of disease, allowing researchers to advance pioneering therapies. It will work to lower the risk of investment in rare respiratory disease research, building the partnerships and innovative infrastructure needed for clinical trials in patients with rare conditions. The centre team also aims to boost public awareness of the realities of living with rare respiratory diseases and raise patient awareness of resources that can improve their quality of life. It is supported by patient groups including PCD Research, PCD Support UK, Action for Pulmonary Fibrosis, Childhood Interstitial Lung Disease and LAM Action.

Professor Hannah Mitchison, the UCL lead, said: “I am thrilled to be part of this major translational initiative, it offers significant prospects to unify research for better recognition of rare respiratory diseases such as primary ciliary dyskinesia (PCD) through diagnostics and mechanistic understanding, paving the way for creation of novel therapeutics. We have a unique opportunity working together with LifeArc, our academic partners, NATA, the affected families and their advocates, to develop national infrastructure and biobanking that ensures no patient is left behind in development and trials of new products and therapies for these debilitating and critical disorders.”

Dr Catriona Crombie, Head of Rare Disease at LifeArc, says: “We’re extremely proud to be launching four new LifeArc Translational Centres for Rare Diseases. Each centre has been awarded funding because it holds real promise for delivering change for people living with rare diseases. These centres also have the potential to create a blueprint for accelerating improvements across other disease areas, including common diseases.”

Patient stories

Adam Harraway has Mitochondrial Disease and says he lives in constant fear of what might go wrong next with his condition. He says: “With rare diseases such as these, it can feel like the questions always outweigh the answers. The news of this investment from LifeArc fills me with hope for the future. To know that there are so many wonderful people and organisations working towards treatments and cures makes me feel seen and heard. It gives a voice to people who often have to suffer in silence, and I’m excited to see how this project can help Mito patients in the future.”

Former BBC News journalist and presenter, Philippa Thomas, has the rare incurable lung disease, Lymphangioleiomyomatosis (LAM). Philippa’s condition has stabilised but for many people, the disease can be severely life-limiting. Philippa explains: “There is so little research funding for rare respiratory diseases, that getting treatment – let alone an accurate diagnosis – really does feel like a lottery. It is also terrifying being diagnosed with something your GP will never have heard of.  I am one of the lucky patients not to be relying on bottles of oxygen or surviving with a lung transplant. I’ve only had a kidney tumour removed and one lung pinned in place. But even as a woman living a relatively normal life with LAM, I am overjoyed at the prospect of a new LifeArc centre for Rare Respiratory Diseases. It represents new and significant hope for all RRD patients and their families – hope that we can speed up and bring together the provision of essential information, access to specialised care, new clinical trials, and above all a future with a cure.”