Rare disease research: Challenges and opportunities

To date, there are 6,172 unique rare diseases that urgently require advanced research, knowledge and treatment. Immense breakthroughs continue to occur, but more needs to be done to give rare disease patients and their families the correct diagnosis, care and support they deserve.

Researching rare conditions and developing adequate therapies for them takes significant time, money and resources. Rare science must overcome the following obstacles to bring a therapy to patients quickly:

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It is why we host a variety of community projects to promote cross-sector collaborations. Each project encourages participants to create new partnerships and connections to help achieve their mission. By coming together as one, unified community to share ideas, research and treatments, we are amplifying the patient voice and encouraging others to “Care about Rare”.

We are all facing the same challenges that come with incredibly complex, poorly understood and insufficiently funded rare conditions. The rare community is advocating for the same awareness, funding and recognition for rare disease. By working together, we are tackling our common challenges as one. We are collectively making impactful change for rare patients and their families around the globe.

Small patient populations

As the name would suggest, a rare disease is exactly that: rare! Patient populations are universally small and dispersed. An international effort must be deployed to find enough patients to run successful rare disease studies and clinical trials. The challenge researchers and drug developers face after finding such patients is to run a study or clinical trial with participants who vary in location, language and time zone.

Developing a therapy for a rare condition isn’t financially feasible for the pharmaceutical industry. The high cost of drug development and small patient numbers turn pharmaceutical companies away from investing in rare disease drugs and patients. This financial decision results in millions of patients going without a therapy to ease their symptoms or improve their quality of life.

Multiple systems are treated by different specialists

Rare disease patients seek treatment from their GP, who often refers them to various specialists for further evaluation. The trouble with rare conditions is that they don’t just affect one body system. Rare diseases can affect multiple organs and multiple systems, making them harder to spot, diagnose and treat. Specialist doctors only address one specific body organ or system.

When a rare patient and their family travels between specialists, no doctor receives the full picture. This puts doctors at a disadvantage, as they can’t connect the dots between different symptoms that affect other areas of the body. Key connections that can lead to a prompt and correct diagnosis often go unmade, lengthening a patient’s diagnostic odyssey even further.

Limited knowledge of rare diseases

What may come as a surprise to some is that rare diseases are not covered in depth during medical school. A common phrase that medical students are taught is “When you hear hoofbeats, think horses not zebras.” This means that when a patient presents with a condition, it’s most likely a common disease over a rare one. Doctors by no fault of their own have little pre-existing knowledge of rare diseases. They aren’t equipped to identify, diagnose and treat rare conditions due to this flaw in their medical education.

Researchers are also hindered by limited knowledge of rare diseases. Research teams only have a few disease models to go off of when exploring a potential new rare disease therapy. They are learning on the job about a condition’s genetic makeup and the effects it has on the body. It isn’t until a rare disease is fully understood that an appropriate therapy can be delivered to patients who rely on them.


Rare science requires funding just like anything else. Sadly, funding is harder to secure. If a rare disease isn’t seen as a research priority by the government, pharmaceutical companies, charities or funding bodies, researchers and drug developers struggle to access the funds needed to conduct their study and work. This prevents breakthrough therapies from reaching rare patients and their families who desperately need and deserve them.

How are we building a united rare disease community with patient groups at its heart?

Advocating for drug repurposing


We are fierce advocates of drug repurposing. Drug repurposing takes an existing drug that has already been approved to treat one condition and uses it to treat another condition entirely. Drug repurposing, or drug repositioning as it’s sometimes called, offers a quick, cheap and accessible way to develop new rare disease treatments. Repositioning drugs substantially lowers the cost of research and speeds up the drug development process, bringing therapies to patients faster.

Collaborating on MCDS-Therapy


MCDS-Therapy is an EU-funded project that’s run by 11 international consortium partners, including Beacon. The MCDS-Therapy consortium is working to develop the first therapy for the ultra-rare bone disease, metaphyseal chondrodysplasia type Schmid (MCDS). We are running a clinical trial as part of the project to test whether the drug carbamazepine can be repurposed to treat MCDS patients. We are working to demonstrate that carbamazepine is not only safe to use, but is also effective in reducing the pain and mobility difficulties experienced by MCDS patients.

Hosting the Drug Repurposing for Rare Diseases Conference


Our Drug Repurposing for Rare Diseases Conference highlights the role that drug repurposing plays in bringing crucial treatments to patients faster. We celebrate the very best examples of rare repurposing projects and studies to encourage patient groups to get involved in research. The beauty of drug repurposing projects is that they can be led by patient groups, industry and researchers alike. All are welcome and encouraged to attend this conference.

Led the rare disease drug repurposing social impact bond project


Drug repurposing can only move ahead if clinical trials are funded. Our rare disease drug repurposing social impact bond proposes an innovative funding source for such research. This social impact bond has the potential to provide much needed funding for rare disease research and deliver crucial new treatments to rare disease patients and their families. It will also save money for global health systems when utilised.

Our proof of concept study illustrated the high financial burden Wolfram syndrome, Friedreich’s ataxia and congenital hyperinsulinism has on the NHS. Repurposing a generic drug to treat each of these conditions would save the NHS significant time, money and resources once the drug was financed and secured.

Rare diseases help to understand more common diseases


If you’re asking yourself why rare disease research matters, it’s for this reason: Rare is fundamental.

There are many instances where improved scientific knowledge of a rare disease has resulted in improved understanding and treatment of more common diseases, such as breast cancer and diabetes.

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Recognising the similarities between rare and common conditions is crucial for both scientific advancement and the adoption of rare disease research. If diseases share similar underlying mechanisms, then they are likely to benefit from similar treatments. For pharmaceutical companies, rare diseases that are linked to common conditions can open a door to a larger market and provide the investment desperately needed into rare disease research.

Rare diseases are at the forefront of patient engagement in medical research and drug development. They are fundamentally changing the way that new treatments are delivered. Rare diseases are amongst the first to be treated with pioneering gene therapies. They are the test bed upon which new curative genetic medicines are developed. Rare diseases help us to better understand human biology. Rare is fundamental.