Injecting hope and funding into the search for rare disease treatments

Catriona Crombie

Associate Director, Technology Transfer, LifeArc

We aim to support academics, charitable organisations and other institutions to transform their ideas into tangible solutions.

Medicine R&D is difficult and takes a long time. With licensed medicines only available for around 500 of the 7,000 rare diseases, turning ideas into treatments for rare and ultra-rare diseases is even harder because of the lack of funding and the complexity of understanding rare diseases with limited patient numbers.

Promising research

Self-funding medical research charity LifeArc is finding ways to change that, helping researchers overcome research challenges and get treatments to patients faster.

“We are providing advice, funding and science to help turn promising research into potential treatments,” says Dr Catriona Crombie, Head of the Philanthropic Fund at LifeArc.

The Philanthropic Fund awards grants to academics with promising projects focused on treatments, devices and diagnostics that could support people living with rare diseases.

Dr Crombie says: “To date the fund has awarded over £9 million to research looking at 33 rare disease indications, exploring all kinds of approaches from cutting edge gene therapy, through to the use of antibodies or repurposing existing medicines.”

We are providing advice, funding and science to help turn promising research into potential treatments.

Accelerating gene therapy research

“New classes of highly specialised medicines, including gene and cell therapies, offer huge potential to transform the lives of patients with diseases that are debilitating or life-shortening with limited treatment options,” says Crombie.

“But a big barrier for academics is how to develop them to a point that they can start trials in patients. These are highly complicated treatments and academics can find it difficult to get access to the specialist facilities, materials, manufacturing processes and the expertise that can ensure the treatments can be used in a clinical trial,” Crombie adds.

To address the challenge, LifeArc and the Medical Research Council (MRC), with support from the Biotechnology Sciences Research Council (BBSRC), announced an £18 million investment to create a national network of innovation hubs for gene therapies.

Boosting initiatives

Medicines repurposing – where a medicine used or in development for one condition is researched for another condition — offers exciting potential for treating rare diseases. But it is not an easy route, and aspects like intellectual property or the format of the medicine can create challenges.

“We have partnered with The Medical Research Council to create a repurposing medicines toolkit. It’s a free, online resource to help researchers, charities and others navigate the complex path to patient access for repurposed medicines,” Crombie explains.