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.

The basics — such as blood tests,
the right medicine dose and scans
— can all help to prolong the
life of those living with PBC.

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 just by asking your GP about PBC.

The post Primary biliary cholangitis symptoms, support and campaign for better care appeared first on Health Awareness.

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 (NF1).

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.

With 95% of rare diseases still lacking
approved treatments, the need for
innovation has never been greater.

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.

The post AI-powered drug discovery company in phase 2 clinical trial for NF1 treatment appeared first on Health Awareness.

This content is password protected. To view it please enter your password below:

Password:

The post Protected: Joining the dots for patients living with rare primary immunodeficiencies appeared first on Health Awareness.

Zhizhi Fiske

Director, Clinical Strategy, Medscape 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.

A global 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.”

The scarcity of specific treatment
options and guidelines for rare cancers
often leads to suboptimal outcomes.

Tackling the unmet educational needs in rare cancers

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 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.”

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.

The post Shining a light on rare cancers: the role of continuing medical education appeared first on Health Awareness.

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 under-diagnosed, 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. 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.

Everyone with NF1 deserves to be
seen by a healthcare professional
(HCP) who understands the condition.

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.

[1] Orphanet. 2014. Neurofibromatosis type 1.

The post Children’s charity campaigns for awareness and education of NF1 appeared first on Health Awareness.

Incorporating patient voice into rare disease drug development can drive more meaningful progress, explains Cecilia Jimenez-Moreno, Associate Director at Kielo Research.

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 decision-making in contexts where objective evidence is required.

It is increasingly common for industry
partners to collaborate with patient experts
and advocates to ensure there is a
patient-centric approach throughout.

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 patient-centric 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.

The post Integrating patient insights into rare disease research drives meaningful change appeared first on Health Awareness.

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. 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.

At the heart of the event lies its
commitment to fostering connections.

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.

The post Gain insights from the largest orphan drug and rare disease event globally appeared first on Health Awareness.

David Montgomery

Senior Medical Director, Ipsen U.K. & Ireland

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

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

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

“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.”

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.

Meeting other people with
PBC through my support
group gave me comfort.

Finding support for a rare disease

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:

“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.

[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.

The post The rare disease community — why it’s more than you can imagine appeared first on Health Awareness.

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.

The 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.

I am so happy to see progress
being made so that children
don’t get left out in any way.

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.

[1] Cancer Research UK. 2022. Children’s cancers mortality statistics.
[2] European Journal of Cancer. 2019. Timing of first-in-child trials of FDA-approved oncology drugs.

The post A brighter future for children with cancer appeared first on Health Awareness.

Alexandra Heumber Perry

CEO, Rare Diseases International

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.

Persons Living with a Rare Disease (PLWRD) worldwide continue to face significant challenges. Clinical experts on rare diseases are few and geographically dispersed. PLWRD and their families face high out-of-pocket 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 on Rare Diseases (GAPRD), which 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. 

Now is the time to shift the paradigm on
rare diseases by adopting long-term,
coordinated and sustainable solutions.

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.

[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

The post Rare diseases and health equity: shifting the paradigm through global action appeared first on Health Awareness.