Rare Diseases
“The challenges rare diseases bring are shared: delays in diagnosis and social stigma.”
Stanislav Ostapenko, Communications Director at EURORDIS-Rare Diseases Europe Page 06
www.healthawareness.co.uk
“Despite its prevalence, NF1 remains largely under-recognised and underdiagnosed.”
Vanessa Martin, Founder and CEO, Childhood Tumour Trust Page 09
Ninety percent of people diagnosed with PBC (primary biliary cholangitis) are women, but it affects everyone differently. Know your symptoms, know your PBC.
Invisible Battles
Rhyanna Halasovski of Studio RLH
Contours of Resilience
Rhyanna Halasovski of Studio RLH
More Than Zebra
Matilda Tumim
Opportunities to improve the lives of those with rare conditions
Learn why renewing the UK Rare Diseases Framework is crucial to improve the lives of the 3.5 million people living with a rare condition
There are around 7,0001 rare conditions, with new conditions identified regularly through scientific progress.
Individual experiences with rare conditions
To mark Rare Disease Day 2025, Genetic Alliance UK published ‘More Than You Can Imagine: An Anthology of Rare Experiences’ capturing individual experiences and demonstrating the impact of rare conditions on their sense of self, relationships and wellbeing.
Challenges in obtaining a diagnosis, barriers to accessing care and treatment, poorly coordinated care, as well as challenges with employment, education and local government support can all impact a person’s ability to manage their daily life.
The UK Rare Diseases Framework (2021–2026)
• Rare disease information hubs in Scotland and Northern Ireland
• SWAN (Syndromes Without A Name) clinics to coordinate care for those with undiagnosed genetic conditions in Wales
• Development of rare disease registration services providing data to inform research, healthcare planning and clinical care
Framework for the future
Challenges in obtaining a diagnosis, barriers to accessing care and treatment ... can all impact a person’s ability to manage their daily life.
The UK Rare Diseases Framework, published in 2021 and co-signed by health ministers, sought to address many of these issues. Despite a lack of dedicated funding and pressures on the NHS limiting new initiatives, the Framework has managed to drive significant advancements. These include:
• Launch of Rare Disease Research UK
• An independent Advisory Group to develop a rare disease quality standard
@Mediaplanet UK & IE
@MediaplanetUK
The existing Framework has laid the foundations, but there is still much to be done. Genetic Alliance UK’s report, ‘More Than You Can Imagine: Opportunities To Improve The Lives Of Those With Rare Conditions’ recognises that new ambitions are needed to capitalise on innovations such as AI-driven diagnostics, genomic testing, cell and gene therapies and digital care support, which could reduce the inequalities that people living with rare diseases face.
We can expand rare disease registries, build from pilots to improve care coordination and embed mental health support throughout the diagnostic journey. Our community demands that the Governments of the UK renew their commitment to rare conditions and refresh the Framework for 2026 and beyond.
References: 1. Department of Health and Social Care. 2021. UK Rare Diseases Framework.
Contact information: uk.info@mediaplanet.com or +44 (0) 203 642 0737
Senior Project Manager: Sophia Rossi sophia.rossi@mediaplanet.com Business Development Manager: Jack Adamson Managing Director UK: Ellie McGregor | Junior Designer: Ellen Cahill Senior Content Manager: Angelica Hackett O’Toole |
WRITTEN
David Senior Ipsen
WRITTEN BY Natalie Frankish Head of Scotland and Public Affairs, Genetic Alliance UK
The rare disease community
— why it’s more than you can imagine
For people living with rare diseases like primary biliary cholangitis (PBC), finding a community can bridge the isolation they face as a result of their rare experience.
Receiving a rare disease diagnosis can result in profound loneliness. The impact of symptoms, limited access to treatment options, delays in referrals and difficulty finding other people who understand create a feeling of isolation. The resulting emotional toll impacts family, relationships, social life and work. While rare diseases are individually rare, suffering from one is not. According to the UK Government, in 2021, there were 3.5 million people in the UK living with a rare disease.1
If not managed properly with pharmacological treatment, patients with PBC can struggle with symptoms. Ultimately, the disease can progress, leading to greater complications like irreversible liver damage, the need for a liver transplant and even premature death due to liver failure. Prompt diagnosis is crucial.
Finding support for a rare disease
DRSC-UK-000738 February 2025
WRITTEN
David Montgomery Senior Medical Director Ipsen U.K. & Ireland
Sharing rare disease experiences can bridge isolation
Every year, Rare Disease Day falls on the last day of February, with the purpose of not only raising awareness but uniting people with rare diseases.
The focus of this year’s campaign is:
‘More than you can imagine.’
Gill Rich, 71 from Nottinghamshire, is keen to share how her incurable, rare liver disease PBC — which affects 25,000 people in the UK2 — impacts her more than people can imagine. As a result of PBC, a progressive disease that affects the bile ducts in the liver, Gill experiences debilitating fatigue, along with a ‘dreadful itch,’ aching joints and Sjogren’s syndrome, which causes dry eyes and mouth.
The unmet need in PBC
For someone who feels alone following a rare disease diagnosis, knowing and ‘owning’ their condition — and connecting with others with it — can bring a sense of empowerment and community. Gill wants to spread the word that there is more support out there for people with rare diseases than they might realise at diagnosis:
Meeting other people with PBC through my support group gave me comfort.
Nine in 10 people living with PBC are women,2 who face a double jeopardy of gender inequality and rarity. PBC symptoms and its typical age of diagnosis (35–55) also means it can be mistaken for ageing or the menopause, delaying diagnosis or effective management and leaving many women like Gill feeling unheard and isolated. For rare conditions like PBC, delays in referrals and growing waiting lists for specialist care make it even more challenging for patients to receive the care they need.3
ai174039716019_13806 IPS-PBC-Ad-262x53mm-CMYK-02-PR.pdf 1 24/02/2025 11:39:21
“When I first saw a GP about my symptoms, I was prescribed hormone replacement therapy for the menopause, which didn’t improve my symptoms,” says Gill. “I became very unwell, and it wasn’t until I saw a different GP that I was referred to a specialist who diagnosed my PBC.”
“I was very worried when I received the diagnosis. My GP and I had never heard of PBC, and the information about it online indicated it’s a death sentence,” says Gill. “Meeting other people with PBC through my support group gave me comfort, as, for the first time, I was seeing people with the disease who looked well. I still worry about the future, but joining this community has completely changed my outlook and enabled me to know my disease better, for example, what normal ALP* levels look like.”
Driven by the patient community
At Ipsen, we believe the voices of everyone living with rare liver diseases matter. We know that when you live with a rare disease, ‘being heard’ and finding people who ‘get you’ can make all the difference. While our ambitions for the community are big, we’ve learned that even small changes, like having the confidence to truly ‘own’ your condition or bringing together patients who have never met anyone with the same condition, are invaluable.
*Alkaline phosphatase (ALP) blood tests are carried out to monitor liver function.
References:
1. Gov.uk. 2021. UK Rare Diseases Framework.
2. Webb GJ, et al. 2021. The Epidemiology of UK Autoimmune Liver Disease Varies With Geographic Latitude. Clin Gastroenterol Hepatol. 19(12):2587-2596.
3. Gov.uk. 2024. Lord Darzi Report – Independent Investigation of the National Health Service in England.
BY
Paid for by Ipsen
This article has been commissioned by Ipsen. Ipsen also provided editorial content for this article.
Image provided by Ipsen; Gill Rich, who has PBC, and her daughter.
With the correct support and incentives, we could be witnessing the first signs of a new academic drug development engine.
For most rare patients, a lack of disease understanding means a treatment for their condition is unimaginable.
Consequently, much of the limited investment into rare diseases is in earlystage understanding of disease biology and identifying treatment concepts.
A challenging route to patients
Once a potential therapeutic is identified, getting treatments to market is more challenging. Success traditionally requires the skills, experience and funding of the pharmaceutical industry, which needs a viable business case to develop a drug. Unfortunately, tiny patient populations are only economically viable when treated with an exceptionally high-priced drug that the NHS struggles to fund. Thus, even patients with viable routes to treatment may be left with nothing.
An academic solution
To solve this problem, we must drive drug development from academia. We need to develop promising therapeutic ideas within universities and hospitals, without relying on market returns to fuel success. This is a significant challenge as researchers are trained and incentivised to test hypotheses, not develop drug products.
Investing in the development pathway
New projects are creating hope for academic drug development. The Rare Disease Research UK project encompasses 11 research nodes. Alongside the four new LifeArc Translational Centres for Rare Diseases, they represent an investment of over £50 million into the UK’s rare research. Similarly, EU-funded projects, such as REMEDi4ALL (focused on finding new uses for existing medicines) are helping academics deliver meaningful treatments to patients.
There are also early signs of innovation in the regulation and delivery of drugs to patients. The NHS Medicines Repurposing Programme potentially provides new routes to patients outside of the traditional model. Its initial success in the field of cancer prevention is promising for rare disease.
Hope for rare diseases
While a world where everyone living with a rare disease has access to treatment remains beyond our reach, recent innovations suggest that policymakers and funders recognise the need for change. With the correct support and incentives, we could be witnessing the first signs of a new academic drug development engine, able to complement the pharmaceutical industry and tackle the huge challenge of delivering new therapies to the world’s rarest patients.
From understanding to impact: driving academic research to deliver rare therapies DOWNLOAD
WRITTEN BY
Dr Rick Thompson CEO, Beacon: for rare diseases
Rare voices, bold advances: how MPN patients are helping shape medicine
New patient-centred initiatives are helping clinicians speak the same language as patients, aligning treatments with lived experiences and empowering patients on their path to better outcomes.
As a physician, you know that the best care begins with understanding your patients — not just their symptoms but their unique experiences and concerns. When caring for those with myeloproliferative neoplasms (MPNs), a group of rare blood cancers, you may face the added challenge of navigating their complex journey.
The patient’s voice in research
Understanding your MPN patients means knowing what matters to them. Research is now reflecting those priorities. MPN Research Foundation’s Patient Impact Council brings patient voices into the scientific process. This initiative incorporates patients into the review of scientific grants and clinical trial protocols. This increases the transparency of science and ensures progress and research topics are aligned with what matters most to patients. Why this matters to physicians:
Making patients stronger partners in care
When patients understand their disease and treatment options, physician-patient discussions become fluent. Through educational webinars, patients gain tools to become active participants in their care and the medical community.
When patients understand their disease and treatment options, physicianpatient discussions become fluent.
• Clinical trials address enrolment barriers to accommodate patients’ daily struggles.
• Research outcomes align with patient priorities, from halting disease progression to quality of life.
• Patient-informed designs foster clinical trial participation and trust.
A brighter future for children with cancer
Childhood cancer is a rare disease yet is the leading cause of death for UK children aged one to 14.1 More research is needed to enhance survival rates, hospital experiences and quality of life for affected children.
TOur webinars include a variety of educational topics: understanding clinical trials and informed consent; the scientific impact of diversity in clinical trials; and drug development, from bench to bedside. For clinicians, this means connecting with patients who are prepared to engage in medical discord, helping you tailor treatments to their needs and goals.
Insights from patients and caregivers
Clear communication is the foundation of effective care for patients with MPNs. Yet, data from our recent global survey of MPN patients reveal key areas where communication can improve outcomes. We believe access to these insights can help physicians guide patients through complex decisions, from exploring clinical trial enrolment to navigating treatment options.
he Great Ormond Street Hospital (GOSH) Children’s Cancer Centre is under construction, supported by a £300 million fundraising appeal from Great Ormond Street Hospital Charity (GOSH Charity). The centre will revolutionise patient care and create an environment where cutting-edge research can thrive.
Charity drives change for children
To support the ambitions of the new centre, GOSH Charity recently launched its first paediatric cancer research strategy. This sees £15 million from our wider £70 million five-year research strategy dedicated
to transforming the outcomes and experiences of children with the rarest and hardest-to-treat cancers. A key priority of the strategy is the development of more effective and targeted treatments. As such, we recently funded two innovative treatment trials for children with relapsed leukaemia.
Accelerating access to cancer treatment for children
One trial, led by Dr Sara Ghorashian, Consultant Haematologist, will adopt a novel approach which will see it run alongside an adult trial for the first time. Dedicated research projects for children’s cancers are rare, and
paediatric trials that do run typically start an average of six-and-a-half years later than adult trials, resulting in delayed access.2
Dr Ghorashian says: “Too often, children wait unacceptable amounts of time to access new cancer treatment which could make all the difference. Our goal is to ensure that children are not left behind and we hope that we can prove the benefit of this novel approach to influence a change in the regulatory policy in the future.”
Mother praises cancer research
A mother whose two-year-old son Frank passed away from his leukaemia in 2019 after being treated at GOSH, has hailed the recent progress in dedicated children’s cancer research. She says:
“Of course, I wish there had been a suitable treatment available for Frank at the time, but I am so happy to see progress being made so that children don’t get left out in any way and can benefit from new treatments being developed.”
We will stop at nothing to give more children the chance to lead happy, healthy lives and thrive into adulthood. Through investment in pioneering research, we aim to reach a world where no childhood is lost to cancer.
References 1. Cancer Research UK. 2022. Children’s cancers mortality statistics. 2. European Journal of Cancer. 2019. Timing of firstin-child trials of FDA-approved oncology drugs.
Paid for by
Great Ormond Street Hospital Charity
WRITTEN BY Kapila Viges CEO, MPN Research Foundation
WRITTEN BY Aoife Regan Director of Impact & Charitable Programmes, Great Ormond Street
The question of whether genome sequencing should be offered to every baby is complex.
~Amanda Pichini , Clinical Director at Genomics England
More than you can imagine: rare diseases in focus
The challenges rare diseases bring are shared: delays in diagnosis, limited treatment options and social stigma.
Why rare is not so rare
On average, it takes four to five years for a person to receive a correct diagnosis.1 For many, those years are filled with uncertainty and missed opportunities for effective care. In the UK, families face these realities daily.
Rare diseases don’t just affect individuals; they reshape the lives of parents, siblings and caregivers. The impact extends beyond health, influencing education, employment and social inclusion. Imagine a child unable to attend school because of a lack of accessible resources or a parent forced to leave work to navigate complex care systems. For millions, this is the reality of rare diseases.
The impact extends beyond health, influencing education, employment and social inclusion.
This year’s Rare Disease Day, on 28 February 2025, reminds us that rare diseases are more than you can imagine. For more information, visit RareDiseaseDay.org.
Why we need more than you can imagine
This year, as part of the global campaign, we spotlight four families from across the world to reveal the shared challenges of rare diseases:
• Radost, 16, from Bulgaria, was diagnosed with metastatic Ewing Sarcoma after months of uncertainty. Intensive treatments in Turkey have been life-saving, emphasising the need for specialised care.
• Ava, 7, from Australia was diagnosed with Maple
Syrup Urine Disease through newborn screening at just 16 days old. Her story highlights the importance of accessible diagnostic tools.
• Charo, 11, from Argentina, is the first in Latin America diagnosed with SYNGAP1, a rare neurological condition. Her journey underscores the need for greater awareness in underserved regions.
• Manzi and Solange’s son, Algas, 20, from Rwanda, was diagnosed with Williams syndrome, a rare genetic condition. After four heart surgeries, his story showcases the critical need for research and breakthroughs.
These stories remind us that rare diseases are not rare at all — they are part of a shared human experience.
Take action
Rare Disease Day calls on all of us to do more than we can imagine. Whether it’s spreading awareness, supporting research or advocating for policy change, every action counts. Together, we can create a world where people with rare diseases and their families have the opportunities they deserve.
Reference 1. Faye, F., et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet 32, 1116–1126 (2024). https://doi.org/10.1038/ s41431-024-01604-z.
Fostering lasting, trust-based relationships will gather the most valuable insights.
Why patient voices can help unlock rare disease treatment breakthroughs
To make a real difference in the rare disease space, pharma companies are driving innovation via partnerships with each other — and with the patients they are aiming to help.
Pharma companies working in the area of rare diseases will, by definition, only impact a smaller percentage of the population.
Yet, the size of a patient group isn’t the point, insists Dr Ernesto Aycardi, Global Head of Development at Kyowa Kirin, a Japan-based global specialty pharma company. It’s about helping those struggling with unmet health needs and who often feel unheard and overlooked.
Targeting rare disease treatments
“Our mission is to develop innovative products that deliver life-changing value to patients and their families,” Dr Aycardi explains. “We want to centre our activities on meeting patients’ needs and representing those who too often feel they have no voice. For those reasons, the rare disease space is exactly where we want to be.”
It’s a stance that has delivered notable successes for Kyowa Kirin, a company with expertise in biologics and stem cell gene therapies and a focus on developing therapeutics for bone and mineral, haemato-oncology, and rare diseases. X-linked hypophosphatemia (XLH), a rare, lifelong, progressive musculoskeletal disease that affects around one in 20,000 people worldwide, is one key area of specialty for the company.
“For people living with XLH, the impact can be debilitating,” says Dr Aycardi. “With limited options available, we worked tirelessly to bring a new therapy for these patients, and we remain committed to addressing the unmet needs of patients and their families.”
Partnership accelerates access to life-changing treatment
Naturally, none of this is straightforward because rare disease drug development is fraught with challenges. By being open to partnering with other companies, Kyowa Kirin has been able to speed up patient access to potentially life-changing medicines. “Most recently, we partnered with Ultragenyx to hasten both late-stage clinical studies and delivery of therapy to our patients around the world,” says Dr Aycardi.
delivery of rare disease medicines. Dr Aycardi stresses the importance of pharma firms working with academia, healthcare providers, regulatory agencies, advocacy groups, and patients themselves.
It’s a point that Angela Williams, VP, Global HEOR Head, reiterates. She notes that Health Economics and Outcomes Research (HEOR) is a vital piece in the drug development jigsaw. “It involves ensuring we understand and measure what is important to patients.
“We always engage with patients on the design of our studies to find out what we should be measuring,” explains Dr Williams. “For example, a drug in development may measure a health issue well known to the clinicians, such as itching; but the clinicians may be less aware of other problems patients have living with a disease, such as fatigue, which is severely affecting the patient’s quality of life. The best way for us to find out about the full spectrum of unmet needs is from the person who is actually living with the disease.”
Importance of a deep and lasting relationship with patients
HEOR teams must go beyond simply ‘talking’ to patients about their experience to inform a clinical trial. Fostering lasting, trust-based relationships will gather the most valuable insights. “It’s why we engage with patients and patient groups at the very start of the research and development process and continue to work through the whole development process together,” says Dr Williams. “We’ve worked this way, not only in XLH but also in cutaneous T-cell lymphoma (CTCL), partnering and collaborating with patient groups all around the world.”
It’s not just good collaboration between pharma companies that can facilitate the discovery and
That includes continuing studies after approval to understand the benefit and safety of a new drug in the broader population of people with the disease. “I believe stem cell gene therapy is going to be revolutionary with regards to rare diseases — and other diseases,” says Dr Aycardi. “Patients with a rare disease are looking for hope. Their voices are becoming louder, and it is incumbent on all of us to listen to them.”
INTERVIEW WITH Angela Williams VP, Global HEOR Head, Kyowa Kirin
INTERVIEW WITH Ernesto Aycardi Global Head of Development, Kyowa Kirin
WRITTEN BY Tony Greenway
AI-powered drug discovery company in phase 2 clinical trial for NF1 treatment
Drug development company utilises AI discovery engine to find treatments for rare disease, celebrating milestone phase 2 clinical trial for potential neurofibromatosis type one (NF1) treatment.
Innovation is urgently needed for conditions with limited or no treatment options. A breakthrough in this space comes from Healx, a Cambridge-based biotech pioneering AI-driven drug discovery, which has recently dosed the first patient in its Phase 2 trial for a potential first-in-class therapy for neurofibromatosis type 1.
A critical unmet need in NF1
NF1 is a rare genetic disorder affecting 1 in 2,500 people worldwide, causing tumours to grow along nerves. These tumours can lead to pain, disfigurement and severe complications, often manifesting in childhood. Despite the condition’s impact, treatment options remain extremely limited. Today, patients must often choose between invasive surgeries or existing therapies that may only work for some patients and come with significant side effects.
The trial offers a completely new approach — one that prioritises both safety and effectiveness. By targeting the root cause of NF1 nerve tumours, this drug has the potential to bring real change to a community that has long faced difficult trade-offs.
This drug has the potential to bring real change to a community that has long faced difficult trade-offs.
From AI discovery to clinical trial
The therapy was discovered using Healx’s proprietary AI platform, which scans vast biomedical datasets to uncover hidden connections between diseases and potential treatments. Unlike traditional drug discovery,
which can take decades and billions in investment, AI can accelerate this process significantly — bringing new medicines to patients faster.
By leveraging AI, Healx identified the therapy as a promising candidate with a novel mechanism of action — something that no other approved NF1 drug currently offers. The therapy is designed to target NF1 tumours in a fundamentally different way, with the goal of reducing tumour growth while avoiding the significant side effects of existing options. Now, this AI-driven discovery is moving into the INSPIRE-NF1 Phase 2 trial, enrolling adult patients in the US. If successful, it could not only provide a safe and effective treatment option but also pave the way toward a future where patients no longer have to choose between treatment effectiveness and quality of life.
This milestone is the result of relentless dedication from Healx’s team, the NF1 patient community, and partners such as the Children’s Tumor Foundation and the NF Clinical Trials Consortium. Their collaboration ensures that scientific progress translates into meaningful impact for those who need it most.
A mission to leave no patient behind Healx was founded with a clear mission: no rare disease patient should be left behind. With 95% of rare diseases still lacking approved treatments, the need for innovation has never been greater.
By combining AI, patient insights and expert-driven drug development, Healx is helping to redefine how we tackle some of the world’s most challenging diseases. This therapy is just one example of how technology and collaboration can accelerate breakthroughs where they are needed most.
This stands as a beacon of progress and hope; not just for NF1 patients but for the entire rare disease community. With each breakthrough, we move closer to a world where every patient has access to the treatment they deserve.
WRITTEN BY
Dr Tim Guillams Co-Founder and CEO, Healx
Investigating genomic newborn screening for rare conditions
A new study is investigating the feasibility and acceptability of using whole genome sequencing to screen newborns for rare conditions where early treatment is available.
Ihave met many families impacted by rare conditions and collectively we must do more for them. That means finding ways to diagnose rare conditions earlier so that support and treatment can be put in place sooner and supporting the development of new treatments for the future. The Generation Study — a research study led by Genomics England in partnership with NHS England — is looking to improve how we screen for rare genetic conditions for better outcomes.
Earlier diagnosis and improved knowledge
The Generation Study, currently live in 26 hospitals, is using whole genome sequencing to look for more than 200 rare conditions in up to 100,000 newborns.1 Parents sign up during pregnancy and a sample — typically from the umbilical cord — is collected shortly after birth. For children found to have one of these conditions, they could be diagnosed and access lifechanging treatment years earlier than the typical ‘diagnostic odyssey’ experienced by many families. The study will also support broader research to help us learn more about the causes of genetic conditions and improve future testing and treatment. We’re asking all parents’ permission to securely store their baby’s genome and health information, which can be accessed for approved healthcare research, without researchers knowing babies’ identities.
Children’s charity campaigns for awareness and education
of NF1
Neurofibromatosis type 1 (NF1) is one of the most common genetic conditions. Yet, the condition remains under-diagnosed and often mismanaged, according to a children’s charity.
Although classed as a rare disorder, NF1 is one of the most common genetic conditions. Despite its prevalence, approximately one in 3,000,1 NF1 remains largely under-recognised and underdiagnosed, which can lead to medical complications.
Range of NF1 symptoms
NF1 affects everyone differently and can cause a range of symptoms, including learning difficulties, brain tumours, bone issues, autism spectrum disorder (ASD), nerve tumours and a higher cancer risk. Multiple café-au-lait marks are often one of the earliest signs of NF1. Another key feature is Lisch nodules, which are small growths on the iris.
We’ve taken great care to develop the study with extensive consultation with the public, parents and families affected by rare conditions, as well as healthcare professionals, policymakers and scientists. Thousands of parents have joined so far, as they want to be able to act early if their child has one of the conditions and they want to help others by contributing to research efforts.
The question of whether genome sequencing should be offered to every baby is complex, and one of the main aims of the study is to generate valuable data and evidence that will help guide decisions about whether and how.
A preventative healthcare shift
There’s broad consensus across government and industry that the future of healthcare is more preventative. We believe genomics will be a key part of that across the lifetime, and its role in newborn screening has enormous potential. This comes with many challenges and a need for continued discussion, but we have every hope the Generation Study could support a significant healthcare shift for the benefit of families with rare conditions along with the wider public.
1.
Both help diagnose NF1, especially in early childhood, allowing for proper monitoring, support, access to educational resources and informed family planning due to the genetic risk. Lack of diagnosis and no standardised guidelines means care for those with NF1 remains a hit-and-miss.
NF1 needs lifelong support NF1 is a complex condition that needs life-long monitoring. Vanessa Martin, Founder and CEO of the Childhood Tumour Trust, discusses raising awareness. “When my daughter was diagnosed at three [years of age], we felt completely alone. There was little support and no clear guidance,” explains Martin. “This charity was founded to bridge
that gap.” Whilst there are two specialist centres in the UK, they can only see a limited number of cases, leaving many individuals without the knowledge or support they need.
Expert care required
Everyone with NF1 deserves to be seen by a healthcare professional (HCP) who understands the condition, no matter where they live or how NF1 affects them. Up to 60% of children with NF1 have learning difficulties. They often struggle with coordination, focus and social skills. Around 15% develop an optic pathway glioma, making early monitoring essential.
NF1 also increases the risk of certain cancers. Malignant peripheral nerve sheath tumour (MPNST) — a type of sarcoma — is linked to NF1, and women with the condition face up to a fivefold higher risk of breast cancer between 30 and 50. Many are unaware they qualify for potential life-saving screening from the age of 40.
Campaign for NF1 care
The Childhood Tumour Trust is championing change; their ‘One degree of separation’ campaign is set to remind HCPs of the importance of early diagnosis and coordinated care.
Reference: 1. Orphanet. 2014. Neurofibromatosis type 1.
Reference:
Genomics England, 2024
WRITTEN BY Amanda Pichini Clinical Director, Genomics England
WRITTEN BY
Vanessa Martin Founder, Childhood Tumour Trust
Image providedbyChildhoodTumourTrust
Rare diseases and health equity: paradigm through global action
Significant research and development investment in rare diseases has led to unprecedented breakthroughs in treatments and therapies. However, progress is inconsistent and unequal across the globe.
PDisease (PLWRD) worldwide continue to face significant challenges. Clinical experts on rare diseases are few and geographically dispersed. PLWRD and their families face high out-ofpocket expenses. The shortage of financial incentives to develop drugs for the small and dispersed populations of PLWRD means that more than 95% of rare diseases do not currently have an approved treatment. 1
Coalition calls for a WHA resolution on rare diseases
Global challenges need a global response. That is why Egypt and Spain are sponsoring a resolution entitled ‘Rare Diseases: A Priority for Global Health Equity and Inclusion’ at the World Health Assembly (WHA) in 2025, with co-sponsorship from Qatar, Malaysia, France, Panama, Chile, the Philippines, Kuwait, Palestine, Luxembourg, Brazil, Romania and Jordan. This resolution is supported by a broad coalition of rare disease organisations, including Rare Diseases International’s 116 member organisations located across 50 countries and over 120 allied civil society organisations.
The primary proposed aim of the WHA Resolution on Rare Diseases is to call upon the World Health Organization to develop a comprehensive Global Action Plan
would provide Member States with a tangible framework for action and a detailed roadmap. It would establish global targets and strategic goals, along with specific actions to achieve them. It would be a tool for raising funds and aligning existing financial resources, policies and efforts to ensure more efficient and equitable outcomes. Further, it would establish a robust process for accountability and monitoring to track implementation progress.
Crucial next step in rare disease advocacy
If successful, the WHA Resolution will build on important policy achievements, notably the 2021 UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease, to provide a strong framework for improving the lives of PLWRD globally.
Now is the time to shift the paradigm on rare diseases by adopting long-term, coordinated and sustainable solutions. The WHA Resolution and the development and implementation of the GAPRD represent a unique opportunity for all stakeholders in the rare disease ecosystem to join together to improve the lives of PLWRD worldwide.
Reference: 1. Navarrete-Opazo, Angela A. et al. Can you hear us now? The impact of health-care utilization by rare disease patients in the United States. Genetics in Medicine, Volume 23, Issue 11, 2194 - 2201
Clinical clues pointing to rare disease
A study, published in the Orphanet Journal of Rare Diseases has identified key clinical clues or ‘red flags’ that can help doctors suspect when a patient may have an underlying rare condition.1
Findings could help form a clinical tool for healthcare professionals, such as GPs, to help them detect when a patient has an underlying undiagnosed rare condition. The study came from a collaboration between Medics for Rare Disease and patient advocacy groups, lived experience leaders and clinicians, representing a broad spectrum of different rare diseases. Findings highlighted both common clinical and social challenges of living with a rare condition.
People with rare conditions can share painfully similar clinical journeys.
One discipline approach to rare disease
There are over 6,000 rare diseases, affecting approximately 6% of the population.2 Common features include having a genetic origin, starting in childhood, affecting multiple body systems. Additionally, people with rare conditions can share painfully similar clinical journeys; fraught with misdiagnoses and seeing multiple specialists, resulting in an average five-year delay from symptom onset to reaching a final diagnosis.
Medics for Rare Disease advocates for a ‘one discipline approach’ to rare disease education for healthcare professionals, drawing on these common aspects of rare disease highlighted in the study. Across the spectrum of rare disease, patients
express a desire to feel heard, believed and be involved in their care. A clinical acknowledgement of ‘rare disease’ greatly improves patient experience, leading to validation, trust and informed decisionmaking.
Clinical tool to support diagnosis
A ‘red flag’ is a clinical clue, sign or symptom from a patient’s history that raises the clinical possibility of a specific underlying disease. They are often used by GPs, as part of a clinical tool or guideline, to help rule in/rule out the presence of a condition. While there may be diagnostic criteria for individual rare diseases, there is currently limited guidance to help healthcare professionals to ‘think rare’ in the first instance.
Medics for Rare Disease is using the findings from the study in its training of medical professionals. Simply having ‘undiagnosed rare disease’ as a differential diagnosis would be a huge step forward, a milestone in clinical decision-making that has the power to place patients on a pathway to a final diagnosis and support.
References:
1. https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03143-8 2. https://www.nature.com/articles/s41431-019-0508-0.
Rare diseases don’t just affect individuals; they reshape the lives of parents, siblings and caregivers.
~Stanislav Ostapenko, Communications Director at
EURORDIS
Rare Diseases Europe
WRITTEN BY Dr Emma Huskinson
Communications Lead, Medics for Rare Disease
Gain insights from the largest orphan drug and rare disease event globally
Join over 2,000 attendees, gain insights from 250+ orphan drug and rare disease industry leaders and connect with over 130 exhibitors at this event.
The World Orphan Drug Congress Europe is the largest and most established event globally for orphan drugs and rare diseases.
Experts and industry access
The event brings together experts from across the globe and the entire orphan drug lifecycle through 10 conference tracks, discussing areas including cell and gene therapy, genetic testing, market access, real-world evidence, orphan drugs policy and more.
Attendees represent not only the most senior individuals across the industry but also individuals from across academia and research; pharma and biotech; government and regulatory; nonprofit; investors; international and public health agencies; manufacturers and suppliers; patient advocates; and more.
At the heart of the event lies its commitment to fostering connections.
At the heart of the event lies its commitment to fostering connections. With one-to-one networking spanning three days, attendees can engage directly with thousands of pharma experts. The congress aims to facilitate over 15,000 networking interactions, offering the perfect platform to share ideas, form partnerships and discover new opportunities.
Advancing the rare disease community
Beyond networking, the event provides a unique environment for innovation and growth. Entrepreneurs can meet investors, pitch their ideas or discover startups with novel and transformative solutions. Companies seeking to expand their reach will find invaluable connections to propel their businesses forward.
What makes this event like no other is its dedicated patient zone, offering a rare opportunity to collaborate with Patient Advocacy Groups (PAGs) and European Reference Networks (ERNs). These organisations play a critical role in advancing the rare disease community, ensuring patient voices remain at the forefront of every discussion.
Enhance your rare expertise
The World Orphan Drug Congress can also take your professional growth to the next level. As an accredited event by the Continuing Professional Development (CPD) Certification Service, up to 26 hours of CPD points could be earned while gaining cutting-edge insights into the rare disease field. It’s the perfect opportunity to enhance your expertise and make a real impact in your field and the rare disease community.
WRITTEN BY Abdu Kauroo Conference Manager, World Orphan Drug Congress Europe
Shining a light on rare cancers: the role of continuing medical education
A rare cancer is defined as one diagnosed in fewer than six out of 100,000 people annually — accounting for roughly 24% of all cancer diagnoses in Europe.1 Managing and diagnosing rare cancers presents unique challenges, often leading to delays in treatment.
Aglobal survey conducted by Medscape among 117 oncologists revealed that the biggest barrier to staying updated on rare cancers is time constraints; most oncologists prioritise learning about more common cancers. This educational gap directly contributes to delays in diagnosis and treatment.2
Rare cancer: educational and management challenges
Beyond time limitations, oncologists face additional hurdles when managing rare cancers, including limited research, scarce clinical guidelines, difficulty accessing specialised expertise and restricted availability of clinical trials.3 The same survey highlighted that oncologists struggle with inadequate evidence for treatment decisions and a lack of resources to help inform patients about their conditions.2
Dr Wei-Sen Lam, MBBS, Medical Oncologist and steering committee member of Medscape Education’s Rare Disease Learning Center explains: “The scarcity of specific treatment options and guidelines for rare cancers often leads to suboptimal outcomes.”
Tackling the unmet educational needs in rare cancers
Primary
diagnostic algorithms to maximise the impact of continuing medical education (CME).
Importance of improving awareness of rare cancers
Dr Lam says: “With the growing role of the internet in patient education, some patients are more informed about their conditions than their healthcare teams. This shift underscores the importance of clinicians being able to interpret and validate patient-found information. Educational initiatives, along with support from nurse navigators and oncology specialists, are more crucial than ever in delivering optimal care.”
The scarcity of specific treatment options and guidelines for rare cancers often leads to suboptimal outcomes.
Addressing this gap requires increased research and educational efforts. To help bridge this divide, Medscape has incorporated rare cancers into its Rare Disease Initiative, aiming to keep oncologists informed on the latest developments in rare cancer diagnosis and management. Surveyed oncologists emphasised the value of expert-led education on rare cancers and expressed the need for downloadable PDFs, concise recommendations and
References:
Patients with rare cancers often struggle to find and understand accurate information due to the rarity of their condition. Healthcare professionals should be educated and trained, so they can clearly communicate this information, empower patients and foster trust.4
The broader need for rare disease education is also recognised in the draft World Health Assembly’s Resolution on Rare Diseases, which calls for increased awareness and training among healthcare providers, policymakers and the public.
1. Gatta G, et al. Burden and centralised treatment in Europe of rare tumours: results of RARECAREnet-a population-based study. Lancet Oncol. 2017;18:1022-1039.
2. Medscape Survey on Rare Cancers, Feb 2025.
3. Christyani G, et al. An overview of advances in rare cancer diagnosis and treatment. Int J Mol Sci. 2024;25:1201.
4. Farrugia T, et al. Addressing cancer survivors’ information needs and satisfaction: a systematic review of potential intervention components for survivors with a rare cancer type. Orphanet J Rare Dis. 2024;19:387.
biliary cholangitis symptoms, support and campaign for better care
Learn about primary biliary cholangitis (PBC), a rare autoimmune liver disease. Discover where to find global support, be part of advocacy and join initiatives to improve care.
Primary biliary cholangitis is a rare autoimmune disease that affects the bile ducts within the liver. In simple terms, the body’s immune system mistakenly targets and attacks its own liver cells. Essentially, the immune system becomes confused and perceives healthy liver tissue as harmful, resulting in inflammation and damage.
Managing rare autoimmune disease PBC
When diagnosed and treated early, PBC can be managed effectively, allowing individuals to lead full, healthy lives with a normal life expectancy. However, if the disease is not detected in time or treatment is delayed, it can progress to liver failure. Symptoms often include chronic fatigue, which can be debilitating, and intense itching under the skin. These symptoms are just a few of the challenges that people with PBC may face. PBC primarily affects women, as the majority of those diagnosed are female.
Seeking PBC support and information
Early intervention is key to managing the disease and ensuring
a better outcome, so recognising symptoms and seeking help promptly can make all the difference. The PBC Foundation, based in the UK, supports over 18,000 patients from almost 90 countries around the world. It provides support, information, peer networks and advocacy in healthcare and policy, as well as facilitates and supports research.
International campaign for PBC care
In 2025, the PBC Foundation is leading the international campaign called Project 90/90. The foundation is using this campaign to ensure that 90% of PBC patients can access 90% of the care standards highlighted in international guidelines. The basics — such as blood tests, the right medicine dose and scans — can all help to prolong the life of those living with PBC.
The foundation is working hard to ensure as many patients as possible not only have these checks but are also assessed and supported in their symptom burden. If you are affected by PBC, come and register with us for free. You too, can be part of Project 90/90. Download the resources from our website and speak to your healthcare professional.
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Joining the dots for patients living with rare primary immunodeficiencies
Diagnosis of rare primary immunodeficiencies remains challenging, relying on genetic testing and recognition of complex symptoms.
Primary immunodeficiencies (PID) are a group of approximately 500 rare, genetic conditions in which a part of the body’s immune system is missing or does not function effectively. In the UK, approximately 4,000 people are living with a diagnosed PID.1
Varied symptoms and progression
Keith Sacco, Clinical Immunologist, Royal London Hospital, explains how conditions can manifest: “Depending on the specific disease, PIDs have an extremely diverse presentation, from acute, life-threatening severe combined immunodeficiencies to more chronic, unpredictable and progressive immunodeficiencies.”
Patients may experience recurrent symptoms such as infections, skin and gastrointestinal complaints and manifestations of immune dysregulation, such as swollen lymph glands. Additional complications can occur through lack of treatment, including permanent lung damage, autoimmune disorders and increased risk of cancers.
“Symptoms can vary significantly between individuals, making it difficult to foresee how these diseases might progress,” adds Sacco. “Having a genetic diagnosis may allow the use of specific treatments and environmental modifiers, ultimately reducing or possibly preventing disease progression.”
Burden of delayed diagnosis
Ongoing research and innovation are leading to the development of novel treatments for patients with some of these conditions. However, challenges still exist due to ongoing difficulties in reaching a specific diagnosis.
“On average, patients living with a rare disease experience
Integrating patient insights into rare disease research drives meaningful change
Incorporating patient voice into rare disease drug development can drive more meaningful progress, explains Cecilia Jimenez-Moreno, Associate Director at Kielo Research.
a five-year diagnostic delay,2 leading to unnecessary hospital visits, psychological distress and increased healthcare costs,” Sacco explains. “Patients may see multiple specialists before receiving a correct diagnosis, as the variety of possible symptoms makes it extremely difficult sometimes to connect the dots. Once you have a diagnosis, it may allow us to administer specific treatments, which improve people’s quality of life and reduce unnecessary healthcare costs.”
Harnessing technology to improve detection
Earlier identification of patients with specific genetic conditions is a key priority. The NHS Newborn Screening programme analyses electronic health records to track individual symptom patterns and flag high-risk individuals who may be living with an undiagnosed, chronic and progressive PID. “As genetic testing is becoming more easily available, and AI constantly develops, I expect to see a lot more patients with rare primary immunodeficiencies being picked up,” Sacco continues. “We are using algorithms to suggest patients who may benefit from genetic testing; there are patients who had seen many doctors — but the dots were just not joined.”
Though identifying patients with ultra-rare diseases illustrates these challenges more, such conditions also herald opportunities for delivering modern healthcare and new therapies more effectively.
References
1. CIPN-BSI. 2024.
2.
Can you provide an introduction to what your research is about?
Kielo Research is a boutique consultancy specialising in integrating patient voice into drug development. As a highly focused team, we apply unique methodologies to ensure patient insights shape research and decision-making. Our clients include pharmaceutical and biotech companies seeking to enhance clinical research with real-world patient experiences.
How do you capture the patient voice in drug development?
Incorporating patient voice in drug development is not a new concept, but it has evolved and improved over the years. We use a range of methodologies to collate feedback, from direct patient interviews to large-scale surveys
involving those actually living with the condition. We employ structured approaches, including focus groups and patient preference studies, to ensure that patient perspectives are collected in a scientifically meaningful way. These methods support decisionmaking in contexts where objective evidence is required.
Why is the patient voice crucial in rare disease research?
This is particularly important due to several factors: lack of available medications; limited awareness of the real impacts on those living with rare diseases; insufficient understanding of the diseases themselves; and sparse evidence regarding their natural history and progression. These elements contribute to high unmet needs that must be further explored
from the perspective of the individuals affected.
How is the industry engaging with rare disease patients in drug development?
The integration of the patient voice in drug development has evolved due to increased awareness of its importance in decision-making. The industry now frequently utilises patient perspectives to inform aspects of clinical trial design, endpoint selection, awareness and dissemination and reimbursement and regulatory submissions, using structured methods to enhance understanding of diseases and identify treatment preferences. It is increasingly common for industry partners to collaborate with patient experts and advocates to ensure there is a patientcentric approach throughout.
What advice do you have for the rare disease community?
With over a decade of experience working with rare diseases, I want to encourage patients, advocates and patient organisations to feel more confident in taking the initiative to push for studies that capture patient experiences and preferences regarding treatments. They can be the driving force that leads the industry to gather this information and include it in their drug development strategies. This creates a win-win situation; we can learn from each other and ultimately improve the lives of those with rare diseases.
Faye, F. et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet 32, 1116–1126 (2024).
INTERVIEW WITH Cecilia
Jimenez-Moreno
Associate Director, Kielo Research
WRITTEN BY Bethany Cooper
Paid for by Kielo Research
WRITTEN BY
Bethany Cooper
This article has been fully funded and paid for by Pharming UK. Pharming UK gave direction on the content
