Learn how a small biotech built on a big dream 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 life-threatening rare disease characterised by repeated painful and unpredictable swelling attacks. 

Rare diseases are a growing area of focus
for researchers, policymakers and all those
who support the local healthcare infrastructure.

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. 

IE.BCX.00008 

[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). 

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Transthyretin (TTR) amyloidosis presents with a wide range of symptoms, meaning that patients often consult multiple specialists. Unfortunately, delays in diagnosis remain a challenge.

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. 

These therapies have been
life-changing for many patients.

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. 

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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.

Amyloidosis 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. 

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. 

Effective therapies have recently emerged for both genetic and wild-type subtypes.

Hereditary ATTR amyloidosis is caused by
a genetic mutation in the TTR gene.

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. 

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 short-hand as a ‘DPD scan.’ In more complex cases, a biopsy-led diagnosis may be required.

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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).  

All of our rare disease research is delivered
collaboratively; this is a testament to the
power of connection driving change.

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.

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Cassandra J Collins

Principal UX Design Director, Microsoft and PhD Candidate, UCD

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.

Multimodal interfaces, such as touchscreens,
provide an accessible and inclusive
way for patients to communicate.

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.

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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.

This strategy has been developed
with the voices of people living
with rare diseases at its heart.

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.

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Clinical trials offer the possibility of life-changing new therapies. However, numerous factors make trials for rare diseases more difficult to do than those targeting larger groups.

There are a range of measures to overcome these — some well-established and others that need commitment and investment.

Orphan medicine designation

The Orphan Medicine Designation (OMD) was introduced in response to the lack of financial rewards for developing medicines for small patient populations. Administered by the European Medicines Agency in Europe and the Food and Drug Administration in the US, it incentivises development of medicines that meet key criteria in the diagnosis, prevention or treatment of rare diseases. 

Innovative research methodologies

Standard methods to guard against bias when carrying out clinical trials are more difficult to do with small participant numbers. These include blinding, where the participant and doctor do not know the treatment given, and randomisation, where participants are assigned by chance to separate treatment groups. The rare disease research community alongside patient partners, is working hard to develop novel ways to ensure scientific rigour while maximising access to potentially life-changing therapies.

We need greater investment in supporting
resources like patient registries, biobanks
and genetic and diagnostic services.

To make more rare disease clinical trials available to Irish patients, we need greater investment in supporting resources like patient registries, biobanks and genetic and diagnostic services alongside a highly trained workforce. This also requires investment in basic science and the translational research that converts this into meaningful therapies. The new National Strategy for Rare Diseases offers reason for optimism.

Collaboration is key

Stakeholders from science, medicine, industry and regulatory bodies working with patients are vital to research and innovation. The European Rare Disease Research Alliance (ERDERA), the European Rare Disease Research Coordination and Support Action Consortium (ERICA) and European Reference Networks (ERNs) are enabling research across Europe through education, data collection, guideline development and collaboration.

Public and patient involvement

Public and patient involvement throughout the research and clinical trial journey is crucial.   Inclusivity, communication and collaboration ensure trials are best suited and relevant to the lived experience of patients. These topics and more will be explored at the Rare Disease Research Conference, 10th April 2025, O’Reilly Hall, UCD.

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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 launched in February 2024 and 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.

Awareness of rare diseases is
imperative to promote change.

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.

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Raising awareness of tuberous sclerosis complex (TSC) and the importance of implementing TSC international recommendations can help those affected.

Tuberous sclerosis complex (TSC) is a lifelong disease causing non-cancerous tumours to grow in organs including the brain, kidneys, heart, lungs and skin. There is no cure, but treatments exist. TSC Ireland supports patients and families and promotes the implementation of international TSC consensus recommendations and coordinated care.

Understanding the impact of TSC

Approximately 1 in 6,000 are born with TSC globally, and around 700 people in Ireland are affected. Laura Enright, TSC Ireland Committee Member whose five-year-old daughter has the condition, says: “Some people may be mildly impacted while the burden of disease for others can be significant.” Around 80% of people can have epilepsy and other neurological problems including behavioural issues, intellectual disability and ADHD while 50% may have autism. Lung and kidney disease is also frequently found.

Approximately 1 in 6,000 are born with TSC globally,
and around 700 people in Ireland are affected.

Community for people affected by TSC

TSC Ireland, founded by parents in 2015, raises awareness of TSC and provides support and information to those affected. It is a vibrant community with family days, conferences, webinars, websites and social media platforms where people offer each other constant support and share experiences.

International TSC consensus recommendations

“We want to inform people about the international TSC consensus recommendations and the importance of surveillance and monitoring,” adds Enright. These were compiled by global TSC experts to optimise care for TSC patients universally. Coordinated care in a centre of excellence is recommended, however, patients in The Republic of Ireland have no such centre. “We are collaborating with clinicians to achieve this goal,” says Enright.

“TSC is a very unpredictable disease. However, with information and support, people can lead the best life they could with TSC rather than focus on it being an overwhelming disease, over which they have no control.” Within TSC Ireland, you will find a passionate, committed community empowering its members to live their best lives.

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Leanne Lennon, Home Support Worker at Central Remedial Clinic (CRC), discusses how she finds fulfilment in a rewarding career that offers a healthier worldview and growth.

How long have you worked on the Network team?

I have worked as a Home Support Worker for the Children’s Disability Network Team for 18 months. As part of a team, I am connected and supported within my role. We take the rough with the smooth; and when the going gets tough, one of my colleagues is always there with an openness that they extend to every one of our young persons with a complex disability or rare illness.

What is your average day like?

Every day is different at Central Remedial Clinic and within my role in particular. I go from one family in the morning to another family in the afternoon. I support those from 0 to 18 years old, with any complex disability, from any background and for short measures of time (up to 6 months). I am given the respect and opportunities to develop my own workshops. I run an Independent Skills Workshop with the support of peers.

Understanding your boundaries and
defining your expectations is labour-
intensive and takes constant reflection.

What do you enjoy most about your role?

It is very gratifying and humbling when a child with a complex disability takes their first steps or learns to say my name when they have difficulty speaking. These moments are very comforting and rewarding and are perhaps my favourite aspect of the role.

What are the challenges of your role?

When the real things that matter become abundantly clear, it’s knowing where the giving ends and the taking begins that is the challenge for some people in my role. Understanding your boundaries and defining your expectations is labour-intensive and takes constant reflection.

What would you share with people seeking a similar role?

Working with the CRC, I have access to many benefits, from public sector pay, pension and terms and conditions to personal and professional development opportunities. I’m a goal-oriented person, so building that place of security is just the beginning. The aspiration can be small, but the progress is everything to a parent and young person. Reaching that aspiration is the best part of the job.

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