Rare Disease Day
Hope for a future in which rare diseases are no longer overlooked
Learn how a small biotech built on a big dream and considers underserved patient populations at the heart of its innovation.
Although each rare disease may have a small patient population, the aggregate of all rare diseases means that a substantial proportion of people are impacted. Current conservative estimates suggest that 18–30 million people in the EU and 263–446 million people worldwide are affected by rare disease at any point in time.1
Commitment to rare disease advancement
BioCryst, a commercial-stage US biotech with EMEA headquarters in Dublin, is committed to discovering and developing treatments and has spent over three decades working to meet unmet needs in rare disease. Luke Robinson, VP and General Manager for Ireland, UK and Nordic Countries suggests: “Many rare diseases share common challenges, such as difficulty in diagnosis, limited treatment options and a lack of awareness, making the collective experience of people living with these conditions more significant. As a result, rare diseases are a growing area of focus for researchers, policymakers and all those who support the local healthcare infrastructure.”
Delivering targeted solutions for unmet patient need
BioCryst focuses on the development of therapies for rare disease. An example of this is hereditary angioedema (HAE), a potentially lifethreatening rare disease characterised by repeated painful and unpredictable swelling attacks.
Researchers at its Discovery Centre of Excellence use an innovative structure-guided approach to drug design, which involves the use of
computational tools and techniques to analyse the molecular structure of disease-causing proteins. By understanding the shape and dynamics of these proteins and essentially how they ‘fit together,’ BioCryst can design small molecules that bind specifically to these targets, either inhibiting their harmful activity or modulating their function in a beneficial way. This approach is particularly useful in the treatment of rare diseases, where targets may be poorly understood or difficult to modulate using traditional drug discovery methods.
Collaboration supporting innovation Innovation and collaboration in rare disease accelerate the development of new drugs and improve the precision of therapies. They give people living with rare disease a chance of achieving health equity, supporting the better management of their conditions and quality of life in a practical way.
With BioCryst’s approach to innovation, listening, learning and sharing, it has made strides across Europe in working with patient groups, regulators and Health Technology Assessment (HTA) bodies to bring new medicines to those who need them most. “I am proud of our approach and while much has been achieved, I am looking forward to what is yet to come,” concludes Robinson.
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References: 1. Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173 (2020).
Luke Robinson VP and General Manager, Ireland, UK and the Nordic Countries, BioCryst
New national rare disease strategy for Ireland
Ireland’s new Rare Disease Strategy will be shaping better care through patient partnership. Learn how this plan will drive real change for those living with rare diseases.
Over the coming weeks, a new national strategy for rare diseases in Ireland will be published. The National Rare Disease Strategy (2025–2030) has brought together the expertise of a wide range of stakeholders to develop and shape a strategy that will drive change in the provision of care for people living with rare diseases in Ireland.
Sustainable impact for people living with rare disease
The driving motivation of this strategy is to provide care that will enable people living with rare diseases and their family members to reach their full potential and live their best lives. The achievements of the last National Rare Disease Plan (2014–2018) are numerous, but much more needs to be done to have a real and sustainable impact on the lived experience of those living with rare diseases.
This strategy has been developed with the voices of people living with rare diseases at its heart. The Rare Disease Patient Forum has over 100 members who have contributed through online and in-person workshops. The Public Consultation had over 500 responses from individuals living across Ireland and a further almost 100 responses from organisations, including patient advocacy groups, medical organisations, public health groups and industry.
Implementation plan development
Following publication of the strategy, the next step will be development of an implementation plan before the summer. The implementation plan will identify priorities and actions to be addressed in the short and medium term. As we have secured some funding for implementation, we are on track to commence implementation over the course of the year. It is an exciting time to be involved in the rare disease space in Ireland.
Partnership in an evolving health system
Patient partnership is a relatively new concept in the Irish health system. It helps to shape evolution of the health service to meet the needs of those with lived experience of service delivery today by proactively engaging with them in prioritising, planning and implementing change.
It has been a key element of development of the new rare disease strategy and will continue to play a vital part in implementation and monitoring into the future. Partnership will ensure that we prioritise the needs of all people living with rare diseases and ensure that we learn quickly what is and is not working in communities and health regions across Ireland.
Vicky McGrath CEO, Rare Disease Ireland
Professor Emer Joyce Consultant Cardiologist, Mater University Hospital
AIncreasing recognition of ATTR cardiac amyloidosis can improve outcomes
Transthyretin Amyloidosis (ATTR) is a multisystemic condition, typically presenting with heart and/or neuropathy symptoms. It is being increasingly recognised in older people due to heightened awareness and advances in cardiac imaging techniques for diagnosis.
myloidosis is a general term used to describe a group of diseases where a particular protein ‘misfolds’ and subsequently accumulates into ‘amyloid fibrils’ which get deposited into various tissues and organs, interrupting their normal function and causing progressive disease.
Risk in older people
In ATTR amyloidosis, transthyretin — a normally occurring protein with important roles in the body — misfolds into fibrils as it exits the liver which deposit in the heart and nerves. It is subdivided into two types: genetic (which we call hereditary ATTR) or acquired (which we call wild-type ATTR). Wild-type ATTR typically affects older adults, presenting after the sixth decade of life and most commonly in those above 70 years.
Effective therapies have recently emerged for both genetic and wild-type subtypes
Symptoms and signs
The heart and nervous system are the most frequently involved organs. Patients can present with heart failure syndrome or rhythm problems such as irregular heartbeat or slow heartbeat, which can lead to collapse or dizziness. In the nervous system, the ATTR amyloid fibrils can cause numbness and tingling.
Hereditary ATTR amyloidosis is caused by a genetic mutation in the TTR gene.
Because many of its initial manifestations can overlap with more common cardiac conditions such as high blood pressure, it has historically been underdiagnosed.
Hereditary ATTR amyloidosis is caused by a genetic mutation in the TTR gene. While rare, there is a particular variant dominant in Ireland (‘T60A’ or ‘Donegal Amy’). However, over 120 mutations have been described across the world.
Frequently, patients will have a history of carpal tunnel syndrome (trapped nerve-causing pins and needles) in both hands — often many years before their ATTR amyloidosis diagnosis.
The ‘autonomic’ nervous system can also be affected. Low blood pressure, diarrhoea or constipation and erectile dysfunction can occur.
How is it diagnosed?
The initial suspicion of ATTR amyloidosis is typically based on an echocardiogram (heart ultrasound) and/or cardiac MRI scan.
A definitive diagnosis can then be made through a non-invasive pathway, using blood tests to out-rule any blood cell abnormalities, followed by a special type of bone scan known in shorthand as a ‘DPD scan.’ In more complex cases, a biopsy-led diagnosis may be required.
The evolving landscape of TTR amyloidosis in 2025
Transthyretin (TTR) amyloidosis presents with a wide range of symptoms, meaning that patients often consult multiple specialists. Unfortunately, delays in diagnosis remain a challenge.
Professor Sinéad M Murphy
Many TTR amyloidosis patients experience symptoms for years before receiving a diagnosis, by which time their condition is often advanced and harder to treat. To address this, a group of clinicians formed a Working Group to develop an Amyloidosis Model of Care, which was approved in 2022. The goal is to reduce diagnostic delays, expedite access to treatment and improve patient outcomes.
Presenting TTR amyloidosis symptoms
• Neurological: Peripheral neuropathy (numbness, tingling, pain, weakness)
• Autonomic neuropathy (orthostatic hypotension, diarrhoea, erectile dysfunction, impaired bladder and bowel control)
• Carpal tunnel syndrome
• Spinal stenosis
• Cardiac: Cardiomyopathy (heart failure, arrhythmias)
• Gastrointestinal: Nausea, diarrhoea, constipation, weight loss
• Musculoskeletal: Joint pain, biceps tendon rupture
Advancements in treatment
Until October 2021, Ireland had no disease-modifying treatments for TTR amyloidosis. Management was symptomatic, aiming to relieve symptoms as best as possible. Patients experienced a gradual and relentless decline, typically succumbing to the disease 5–10 years after symptom onset due to heart failure, autonomic dysfunction and weight loss.
Thankfully, major treatment advances have changed
the outlook for patients. Several medications now alter the natural history of the disease, such as tafamidis and genetic therapies including patisiran, vutrisiran and inotersen.
These therapies have been life-changing for many patients. While the primary aim of treatment is to stabilise the condition and slow progression, some patients experience improvements, particularly in autonomic or sensory symptoms. Early treatment initiation leads to better outcomes.
Multidisciplinary care approach
Managing TTR amyloidosis effectively requires close collaboration between cardiologists and neurologists to tailor treatment plans. At Tallaght University Hospital’s Neuropathy Clinic and the Mater University Hospital’s Cardiac Amyloidosis Clinic, working as part of the Model of Care proposed Irish Expert Amyloidosis Network, Professor Joyce and I conduct regular multidisciplinary amyloidosis meetings. These sessions enable us to discuss cases and determine the most appropriate treatment strategy for each patient.
Future directions and ongoing research
TTR amyloidosis research is evolving rapidly. An upcoming trial aims to investigate whether treating pre-symptomatic TTR mutation carriers can delay disease onset. Additionally, exciting new therapies are on the horizon, offering hope for even better treatment options.
The landscape of TTR amyloidosis treatment has shifted dramatically. Just a few years ago, we had few therapeutic options to offer patients. Today, the field is advancing at an unprecedented pace, bringing real hope to those affected.
Public awareness for people living with rare diseases
Increasing public awareness is essential for understanding the challenges faced by the rare disease community.
Awareness helps to foster acceptance and reduces the stigma that is often associated with rare diseases.
Rare disease campaign promotes understanding
I Am Number Seventeen is a public awareness campaign initiated and funded by Takeda Products Ireland in partnership with Rare Ireland and Rare Diseases Ireland. It aims to raise the voices of those living with rare diseases, increasing understanding of what it’s like to live with a rare disease.
Highlighting lives of people with rare disease
I Am Number Seventeen showcases 17 individuals living with rare diseases, highlighting their unique lives, personalities and accomplishments. This initiative tells the stories of these changemakers, focusing on their experiences as individuals rather than solely on their rare diseases.
The campaign launch
I Am Number Seventeen was officially launched in February 2024 by Stephen Donnelly, the previous Minister of Health, and featured a beautiful exhibition of photos of the 17 Changemakers. The images were captured by photographer Julien Behal, giving a recognisable and relatable face to the statistics. These photos have since appeared in several venues around the country, continuing to share the message that ‘it’s not rare to be rare.’
The importance of public awareness Awareness of rare diseases is imperative to promote change, increase understanding of rare diseases and create a more inclusive community. I Am Number Seventeen puts rare diseases in the spotlight and emphasises that 1 in 17 people will, at some point in their lives, be affected by a rare disease. It currently takes, on average, five years to get an accurate rare disease diagnosis. Awareness of rare diseases is vital for more timely diagnoses, in turn improving care pathways for people living with rare diseases.
I Am Number Seventeen is a positive three-year campaign aimed at highlighting rare diseases. It has united a community to advocate for increased public awareness. Rare Ireland is honoured to partner in this campaign and contribute to its success. We look forward to the next phase.
Rare disease
community can now access an app to accelerate diagnosis
Patients can speed up rare disease diagnosis using a secure digital app that stores their data privately. They can share it with their GP or consultant only if they choose.
When a diagnostic journey begins, most patients have no clear idea of what they might be facing. They may be searching for answers about a rare disease, a more common condition or even questioning whether there’s a medical concern at all. They are simply trying to understand their symptoms and what steps to take next.
Privacy-focused AI health app
A digital app using a ‘Privacy by Design’ method of safe, personalised AI can help patients and families understand whether their symptoms may be unusual, suggestive of a medical condition or even a rare disease. Privacy by Design requires patient data to be input by the patient on their own mobile device, without being hosted or sent over any cloud.
Meeting needs of the rare disease community
The Screen4Care app has been co-designed with the rare disease community of Europe and addresses the needs of patients first and foremost. It also enables GPs and medical professionals to get faster and more accurate, nuanced insights into the history and pattern of symptoms that patients report. It can lead to better diagnosis in a shorter time.
Inclusive multimodal communication Multimodal interfaces, such as touchscreens, provide an accessible and inclusive way for patients to communicate, regardless of physical or cognitive differences, sensory challenges, language barriers or other communication issues.
In the S4C system, touchscreen inputs are converted into structured ‘scripts’ that translate patient-friendly language into precise clinical terminology, ensuring that medical professionals can understand and respond effectively. This bidirectional communication functions as a virtual clinic, bridging the gap between patients and healthcare providers for more efficient and accurate interactions.
Advancing rare disease research without borders
People affected by rare diseases have many unmet health and social care needs. High-quality research is required to improve diagnosis, treatment and support for patients, families and caregivers.
Supporting children and young people Raising Awareness of Rare Disease Throughout All Communities (RARDTAC) and the All Ireland Rare Disease Interdisciplinary Research Network (RAiN; Rare Disease All-Ireland Interdisciplinary Research Network) continue to thrive with regular ‘cup o’collaboration’ meetings, hosting webinars, an early career researcher forum and the launch of Children and Young Person’s Research Advisory Group (RAiN CRAG) for rare diseases. This All-Ireland CRAG brings together charities, advocates, research and clinical experts, driving research, improving outcomes and empowering children and young people living with rare diseases to influence positive change.
Empowering rare disease carers
Carers supporting people living with rare diseases describe themselves as medical navigators, advocates, peer supporters, travel agents (navigating to different medical centres that may be overseas) and researchers. They are often exhausted, caring 365 days of the year with no respite and describe having no time for themselves. We are co-developing an online support tool (caringwithrare.org) that complements our developing Northern Ireland rare disease information hub (rarediseaseni. info).
Speeding up clinical trials
Our recently funded LifeArc Centre for the Acceleration of Rare Disease Trials (co-led by Prof McKnight at QUB and Prof Tim Barrett at University of Birmingham, with Profs Dave Jones and Volker Straub at Newcastle University) offers a new approach to help people participate in clinical trials. It aims to speed up delivery using a ‘one-stop’ approach, with clinical trials delivered in partnership with patients and their families and supporting approval of rare disease medicines.
Strength with charity partners
Collaboration is at the heart of everything we do. We are delighted to establish several PhD studentships this year — working with charity partners, including the Northern Ireland Kidney Research Fund and the Fragile X Society, improving diagnosis and treatment of rare conditions. We continue to work closely with the Northern Ireland rare disease partnership. All of our rare disease research is delivered collaboratively; this is a testament to the power of connection driving change.
Laura Egan Co-Founder Rare Ireland
AJ McKnight Professor of Molecular Epidemiology and Public Health, Director of Postgraduate Research, Queen’s University Belfast. Co-Lead of RAiN and the LifeArc Centre for the Acceleration of Rare Disease Trials.
Sponsored by Queen’s University Belfast
Lizbeth Goodman Director, SMARTlab, UCD