Rare Diseases - Q1 2026

Rare Diseases

Q1 2026 | A promotional supplement distributed on behalf of Mediaplanet, which takes sole responsibility for its content

“Of the almost 7,000 rare diseases, 70% appear during childhood, and only 5% have a recognised treatment.”

Pablo Ramirez Uribe, Member, Rare Diseases International Youth Leadership Programme Page 02

“Young people are using their voices, and it’s our responsibility to listen.”

Rhiannon Walls, Global Rare Disease Day Lead, EURORDIS-Rare Diseases Europe Page 04

Youth driving global rare disease change

Of the almost 7,000 rare diseases, 70% appear during childhood, and only 5% have a recognised treatment.1

Reality of rare diseases for young people

As young people living with congenital rare conditions, we understand its challenges: the fear of an early death, lack of medical knowledge, questioning from physicians and financial strains on our families. Still, we’ve been fortunate to have access to the treatments we needed to survive. Millions of people living with rare diseases struggle to access diagnosis, treatment and care. We want to use our voices, perspectives and strengths to reduce these inequities and improve the lives of people living with a rare disease globally.

Mobilising global action

The rare diseases landscape is at a critical moment: last May, the World Health Assembly (WHA) passed a landmark resolution recognising rare diseases as a global health priority and calling for the development of a 10-year Global Action Plan for Rare Diseases (GAPRD) to be

Asfaha | All images supplied by Getty Images, unless otherwise specified

developed over the next two years.

As participants in Rare Diseases International’s Youth Leadership Programme, we travelled to Geneva to witness this historic event alongside 11 other youth advocates from around the world.

Now we stand ready to participate in the next steps for ensuring that the Resolution has a real impact in areas where people living with a rare disease need it most.

Youth voices are critical. As the GAPRD will impact the rare disease landscape over the next decades, it must respond to our concerns and needs, and we must actively participate in shaping it.

As young rare disease advocates, we know that the youth can change the world if given the platform. We’re ready to seize every platform — whether by sharing our stories on social media or speaking at regional and global events — to raise our voices alongside more established leaders. When young leaders are given space to be heard, we can drive meaningful, global change to shape our future.

Rare Disease Day is a reminder that behind every statistic is a person: a child, parent or family, waiting for hope.

More than you can imagine: the unseen work that gets rare disease medicines to patients

When we think of innovation in healthcare, the image that often comes to mind is a scientist in a laboratory, discovering a breakthrough molecule that could change lives.

WRITTEN BY Janneke van der Kamp CEO, Norgine

And while that moment is extraordinary, it’s only the beginning of a much longer and more complex journey, one rarely seen yet critical in ensuring patients receive the medicines they need.

The journey becomes even more complex in the field of rare diseases. Across Europe, the healthcare landscape is fragmented, with complex regulatory frameworks, health technology assessment (HTA) requirements and diverse healthcare systems. Navigating these pathways is as challenging as the science itself.

Norgine is uniquely positioned to address these challenges. With extensive and flexible in-house development, manufacturing and commercial capabilities across Europe, Australia and New Zealand (ANZ), we believe that every scientific breakthrough deserves to reach the patients who need it.

Beyond the laboratory: the invisible infrastructure of innovation

Delivering innovative medicines to patients requires much more than scientific discovery. It demands a robust, often unseen infrastructure that can adapt to the intricacies of multiple healthcare systems and regulatory environments.

Our approach is to leverage deep regional expertise together with strategic partnerships that bridge the gap between laboratory breakthroughs and real-world patient access. By identifying promising therapies from companies without a local presence in Europe and ANZ, and forming partnerships in which we bring their medicines to patients in these regions, we apply our know-how to accelerate and broaden their availability. This commitment to operational excellence and creative problem-solving ensures that innovation translates into meaningful outcomes for patients, wherever they are.

With decades of on-the-ground experience, we navigate regulatory, HTA and reimbursement hurdles across diverse, complex healthcare systems. This capability underpins our focused in-licensing and acquisition strategy, enabling us to pursue assets in areas of high unmet need and bring life-changing medicines to patients faster, year after year.

Challenge of fragmentation

Europe’s diversity is its strength, but in healthcare, it can also be a barrier. Each country has its own

processes, timelines and pricing structures. A medicine approved in one market may face months (or even years) of delay before reaching patients elsewhere. For families living with rare diseases, these delays are not just frustrating; they’re lifealtering.

In recognition of these challenges, much has and is being done at a European institutional level to streamline processes and bring medicines faster. Recent initiatives like the Biotech Act, reform of the European Medicines Agency, EU Joint Clinical Assessment and new General Pharmaceutical Package are well-intentioned but have the potential to create additional layers of policy requiring careful navigation at an EU and member state level.

Collaboration as catalyst

No organisation can solve these challenges alone. Partnerships are essential, whether with biotech innovators who bring promising therapies or with patient groups who amplify the voice of communities, which consistently prove critical in accelerating the journey from bench to bedside.

At Norgine, we seek collaborations with stakeholders that accelerate access, combining scientific innovation with operational excellence to deliver medicines where they’re needed most. This collaborative spirit extends to manufacturing and supply. Reliable delivery is often taken for granted, but it requires rigorous planning and contingency measures. For rare disease medicines, where volumes are low and production is specialised, ensuring continuity of supply is a constant priority.

Rare Disease Day is a reminder that behind every statistic is a person: a child, parent or family, waiting for hope. For them, innovation isn’t an abstract concept; it’s a lifeline. And that lifeline depends not only on what happens in the laboratory, but on the unseen work that follows: data generation, negotiations, logistics and the relentless commitment to overcome barriers.

At Norgine, we’re proud to play our part in this journey. We’re European specialists with a global outlook, driven by a simple belief: that innovation shouldn’t end at invention. It should end where it truly matters, in the hands of the patients whose lives it can transform.

This article was developed and funded by Norgine to support enhanced access to rare disease medicines in Europe and beyond.

through innovative development, strategic partnerships, and a robust in-licensing and acquisition strategy.

Find out more at Norgine.com.

Supporting

those who carry

the weight of rare disease

“This is our one chance. We have to make it count.” These words have crossed all our minds, defining a sense of pressure, a focus point and a pivotal moment.

Whether said during a vital work meeting, exam or even a sporting event, these words represent a time when we take the weight of expectation on our shoulders and feel we must perform.

Rare disease – high stakes

Now imagine having that feeling when funding for the first-ever treatment for a rare disease is on the line, when an NHS service may be commissioned or when a family needs to secure benefits. These are real pressures facing rare disease patient organisation leaders daily. Rare patient organisations support people affected by a specific rare condition by connecting families, driving research and supporting decision-makers. Their impact and importance cannot be understated, but the challenges faced by those leading them feel overlooked.

From parent to leader

Most leaders are carers of children living with a rare condition. Parents who decide they won’t accept the status quo; they must change their family’s future. In founding a charity, they begin a journey where they assume a position of leadership for a community otherwise bereft of hope. They carry the expectations of all those affected. They become representatives for a diverse community with different experiences of their condition. The pressure of representing them and delivering change is huge. Almost all will face a pivotal moment on their journey, where they perceive their actions and decisions will change the fate of their community. Some may have to choose between research that’s right for the community or their own family.

Support and recognition

None of us knows how we would face such moments, but we can at least perceive the mental burden. Rare leaders need support. At Beacon, we provide coaching, mentoring and community connections, all designed to lessen the burden of rare leadership. I hope, this year, we can see these challenges more widely recognised, and organisations working with rare leaders provide the support and resources they need to support themselves, one another and their communities.

Meet Mollie

Mollie has Rett syndrome, a rare and severe neurological disorder. Although there is currently no cure, clinical trials have begun, offering renewed hope to families.

As a baby, Mollie developed normally until around her first birthday. By 15 months, her parents, Mark and Claire, became deeply concerned when she stopped meeting milestones and began losing abilities, such as sitting and playing with toys, and using her hands.

Three months later, genetic testing revealed the devastating news that Mollie has Rett syndrome.

Rett syndrome is caused by changes in the MECP2 gene. Girls like Mollie seem to develop normally at first, but symptoms slowly appear, making movement and communication harder. Some have seizures, and many need constant care.

Mark shares, “I’ve never heard Mollie say daddy, never seen her walk. We’re blessed that she has a younger sister, but it’s heartbreaking to watch one child live the life the other should have too.”

Hope in research

The family has found hope in news about gene therapy. Through funding pioneering work that offered initial proof that gene therapy could treat, or possibly cure, Rett syndrome, children’s charity Action Medical Research has helped pave the way to exciting progress now being made. Clinical trials are underway, and the possibility of transformative treatment feels closer than ever.

Cycling for change

This vital research to help children like Mollie is only possible with support. Through their programme of bike rides, Action Medical Research have built a community of active givers, including biotech professionals. By partnering with EBD Group, the charity benefits from key life-science events, such as BIO-Europe, where initiatives like BiotechBikers help power research through connections. These partnerships enable Action Medical Research to continue fighting rare diseases to change the lives of children like Mollie.

Mark says, “If Mollie could regain basic skills, it would be tremendous. We’re so close, but time is passing. This condition has already taken so much from her. Many families have waited longer than us — and sadly, some children have been lost along the way. Change is now within reach.”

WRITTEN BY Dr Rick Thompson, CEO, Beacon for rare diseases

The future is now: how young people are shaping the future of rare disease advocacy

The next generation is here, and they want you to take them seriously.

Every year, Rare Disease Day unites communities worldwide in fighting for equity for the 300 million people living with rare diseases.

New initiative: Raising Youth Voices

Raising Youth Voices was born out of a collaboration between EURORDIS-Rare Diseases Europe, Rare Diseases International (RDI) and the National Organization for Rare Disorders (NORD), realised with the support of Fondation Ipsen.

Designed to ensure that young people worldwide are included in shaping the future of rare disease policy, research, care and community support, the initiative culminated in a roundtable in early February. Youth representatives from each of the six UN geoscheme regions presented the Rare Disease Day projects they’re leading in their communities and broke down issues impacting young advocates.

Many of the challenges discussed by regional representatives will be familiar to others in the rare disease community, including limited treatment and specialised care access, funding gaps and social stigma and isolation. At the same time, young people are navigating the uncharted waters of a volatile global landscape and a rapidly shifting digital frontier.

Upsides and downsides of social media

Social media’s impact featured prominently in the roundtable discussion, with representatives reflecting on its power to foster solidarity, while raising questions around the vulnerabilities of maintaining an online presence.

Discussions around balance, burnout and self-belief — including experiences of imposter syndrome and age-based dismissal — highlighted the resilience required to break into the space and the need for young people to be treated as sustainable, equal partners.

“The decisions taken now are going to have an effect years down the line. If we, the young people, do not take ownership over this, no one is going to come in and save us. It is us. It’s up to us.” - Pablo Ramirez Uribe, Regional Representative for South America

Across vastly different regional contexts, these young advocates have found common ground in shared struggles, leveraging the collective power of their experiences to build a better world for the rare disease community. Young people are using their voices, and it’s our responsibility to listen.

How collaboration and innovation are advancing rare disease care

Pharma companies can address unmet needs among people with rare diseases by taking a long-term, holistic and collaborative approach to this often-overlooked area of medicine.

Working in the rare disease space is uniquely challenging, admits Faye Dack, UK Country Manager at Spanish pharmaceutical company Ferrer. Patient cohorts are small, clinical trials can be difficult and drug approvals can be slow. However, when breakthroughs do occur, it’s also incredibly rewarding.

“When we see how even incremental medical advances can profoundly affect a person’s life, it’s very fulfilling and hugely motivating,” says Dack. “Health is a human right… And yet people living with rare diseases still face high unmet needs. Equitability to medicine is a problem. We want to address this social injustice by focusing our efforts in places where we can have the greatest positive impact.”

The company’s main therapeutic areas of focus are pulmonary vascular and interstitial lung diseases and rare neurological diseases. “These conditions are severe, but are low-prevalence, so they’re often overlooked,” says Dack. “We have experience in these diseases, so we felt they were areas where we could make meaningful contributions. There’s lots of scientific activity happening, and while it’s too early to conclude therapeutic outcomes, the direction of research is very encouraging.”

DWorking together is critical in rare diseases

For optimum results, Dack notes that it’s important for pharma companies to take a long-term and ‘holistic approach’ to rare diseases. “Holistic means looking beyond medicine or a single intervention and understanding the whole patient experience across the entire healthcare system,” says Dack. “It’s then possible to identify where their journey can be improved, from diagnosis all the way through to daily living.”

This can’t be done in a vacuum, so it involves working closely with everyone from patient groups and clinicians to caregivers, specialist centres, academics, regulators, politicians and other pharma companies. “Collaboration is critical,” she insists. “No one organisation can address rare disease challenges alone.”

Going forward, Dack stresses the importance of ongoing research efforts for UK patients with Huntington’s disease, amyotrophic lateral sclerosis (ALS) and progressive supranuclear palsy (PSP). “These are devastating neurodegenerative illnesses for patients and their families,” she says. “We need further scientific investigation that supports the independence of people with these conditions, along with therapeutics that stop or modify the underlying causes of their diseases. And, crucially, when these advances do come through, we must ensure there’s equitable access so all patients can benefit from them.”

Why mRNA medicines could be a rare disease breakthrough

Breakthroughs in mRNA medicines could be transformative for patients living with rare diseases such as cystic fibrosis and ornithine transcarbamylase deficiency.

uring the Covid-19 pandemic, advances in messenger ribonucleic acid (mRNA) technology accelerated vaccine development. Now this same technology may offer new hope to patients with rare diseases, like those with cystic fibrosis (CF). CF is a chronic, progressive, life-shortening, currently incurable genetic disease that primarily damages the lungs and digestive system.

Then there is ornithine transcarbamylase (OTC) deficiency — also currently incurable and estimated to affect more than 10,000 people worldwide1 — a metabolic condition that causes a build-up of ammonia in the blood and is highly toxic to the brain and nervous system of newborns, children and adults.

Our bodies need millions of essential proteins to operate and survive. CF and OTC deficiency are a result of gene mutations which cause the body to produce a faulty protein (CF) or a non-functional protein (OTC).

However, Arcturus Therapeutics, an mRNA medicines company, currently has therapies in development that could prove life-changing for patients. Rather than managing symptoms, mRNA medicines aim to address the underlying genetic cause of disease by providing a healthy version of missing or defective proteins.

Improving the quality and longevity of patients’ lives

Traditional medicines can often struggle to reach or replace complex proteins inside cells. The big

advantage of mRNA medicines is that when they enter the cell, they provide ‘instructions’ to produce the proteins needed to prevent or treat a disease.

“We believe mRNA medicines are truly transformative for rare diseases,” explains Alan Cohen, MD, Chief Medical Officer at Arcturus Therapeutics. “Practically speaking, they help us make our own protein therapies.” Dr Cohen notes that the company has also developed its own specialised delivery system designed to send mRNA medicines to targeted organs and cell types.

In conditions like CF, different patients can have different genetic mutations. Yet mRNA medicines can potentially treat cystic fibrosis patients regardless of their specific mutation, so offering a unique ‘blueprint’ solution. They can do this safely, too, because unlike gene therapy, mRNA is temporary. Once its instructions (or ‘messages’) have been delivered, the body naturally breaks them down.

“It’s an exciting time,” says Dr Cohen. “Advances mean we now have the possibility of being able to better identify rare conditions and bring something to the forefront that could improve the quality and longevity of patients’ lives.”

References: 1. Arcturus Therapeutics. (2024). Arcturus Therapeutics Provides Updates for Ornithine Transcarbamylase (OTC) Deficiency and Cystic Fibrosis (CF) Programs.

How we’re using artificial intelligence to advance

rare disease research

Artificial intelligence (AI) holds great potential to advance rare disease research. Here’s how scientists and physicians are using AI to improve outcomes for people living with rare diseases.

How is AI used in rare disease research?

Dr Kaminski: AI encompasses a broad set of applications. Scientists and physicians are using sophisticated computer vision or wearable sensors to collect large amounts of data from patients, then applying machine learning techniques to identify unexpected patterns.

I think among the most exciting potential applications for rare disease research is to develop computer modelling of the natural history of a patient. We can then use those models as a digital arm in a clinical trial, which could substitute for a placebo arm. This is critical to develop in rare disease research because only a few patients are available for study.

How can AI improve outcomes for patients and families?

Dr Kaminski: A significant problem in rare diseases is that there are few experts. General paediatricians, internists or even specialists are not going to necessarily recognise rare diseases. This diagnostic delay can be one, two or multiple years, decades even, for some patients. However, these individuals are definitely coming in to seek medical advice.

Now it’s possible to interrogate the electronic health record systematically to identify patterns for these rare diseases, and potentially then alert the physician to the diagnosis.

What excites you about the future of research with AI?

Dr Kaminski: So many things — from identifying biological mechanisms, speeding diagnosis, improving clinical trial performance and then ultimately translating these advances to patient care. All these things are possible because of the ability of AI to see patterns and identify commonalities that could not be done by a single human.

Reshaping access to rare disease medicines to ensure no one is left behind

By building tailored partnerships with innovators and drawing on deep local expertise, a new European model is unlocking the potential of rare disease medicines and reaching patients across all 32 countries.

Across Europe, patients with rare diseases are being let down,” admits Adam Plich, and it isn’t due to a lack of pharma innovation. The reason rare disease drugs don’t always reach the people who need them is because of structural flaws in access and commercialisation models.

“Traditionally, pharma companies can either set up their own infrastructure, but that’s costly because Europe is a daunting maze of countries with different jurisdictions, currencies, languages and regulatory requirements,” he explains. “Or they licence their drugs to bigger players, which means giving up control of their own product. No wonder some think: ‘Maybe we’ll focus on launching in places where it’s simpler, more predictable and more welcoming.’”

As the CEO & Co-Founder of Avanzanite Bioscience, a commercial-stage pharma company, Plich has built a continent-wide infrastructure and the team with deep local market expertise, which is the basis of Avanzanite’s capabilities in distributing and commercialising rare disease products across all countries in Europe

High-level knowledge of each country’s healthcare system

A former competitive chess player, he approached this challenge like a chess match. “If Europe is a chess board, it’s about understanding every single square,” he says. “You always have to think four steps ahead and know how a move in one direction will impact something else.” To play the game successfully – and make sure innovative medicines actually reach patients – it’s vital to have knowledge of each country’s healthcare system and the skills to negotiate funding pathways with every government.

“Plus, it’s about asking pharma companies from the outset: ‘What requirements do you have that would enable you to bring your product to Europe?’” says Plich. “Understanding that allows flexibility.” Ultimately, he insists the focus must never waver from the people at the centre of this process: those living with rare diseases. “It’s just not acceptable for pharma companies to avoid certain countries because they’re ‘too difficult’ to operate in or to enter,” insists Plich. “So, if we bridge the gap between the product and the patient, we can ensure that no one is left behind.”

WRITTEN BY Henry Kaminski, MD Jeffrey Lieberman Professor of Neuroscience, George Washington University, Principal Investigator, Myasthenia Gravis Rare Disease Network (MGNet)

Rare disease and the undeniable force of patient advocacy

Something remarkable is happening in rare disease research. It’s not coming from big pharmaceutical companies or research universities — it’s being led by families fighting to save their children’s lives.

What started as a handful of desperate parents pooling their savings and organising fundraisers has grown into a powerful movement changing how treatments get developed.

Rare disease patient advocates are stepping up

When pharmaceutical companies decide a disease affects too few to be worth their investment, families step up — hiring scientists, organising research studies and even starting companies to develop treatments.

Terry Pirovolakis started a biotech company to complete the development of a gene therapy for SPG50, the rare disease his son has. Amber Freed worked with Nationwide Children’s to develop a gene therapy for SLC6A1 for her son and has started a biotech company to expand to other SLC6A1 patients.

My own journey began when my daughter was diagnosed with STXBP1, and we’ve built a diversified therapy pipeline with our research network.

Parents shouldn’t need to become scientific experts or navigate complex drug development processes. But they do it anyway because waiting isn’t an option. The drive is deeply personal — especially for parents who’ve looked their children in the eye and promised to find help.

A highly connected and organised patient community

Patient groups now build tools that researchers and companies need: tracking how diseases progress over time, helping design studies for small patient populations and creating platforms for sharing data and knowledge. They’ve expanded from support and education to also providing resources and funding that move research forward.

New possibilities are emerging as gene therapies show real promise for treating genetic conditions, and as genetic testing helps identify more previously undiagnosed patients. Scientists are also learning to develop treatments to help groups of related conditions rather than each disease separately, making collaboration between patient communities more powerful than ever.

WRITTEN BY Tony Greenway

This movement is growing stronger every day, and it’s bringing together patients, families, researchers, doctors and companies in new ways. Together, we’re proving that even the smallest patient communities deserve hope — and that hope is leading to real progress.

IRare but costly: the importance of defining the true cost of rare

diseases in the UK

The socioeconomic burden of a rare disease in the UK is ~£70,000 per patient per year;1 it’s critical to acknowledge this cost to recognise the full value of new treatments

n 2025, we reviewed published evidence for ten rare conditions and estimated that the socioeconomic burden of a rare condition in the UK is ~£70,000 per patient per year – eight times higher than for common diseases.1 With 3.5 million people in the UK living with a rare condition,2 this equates to ~£200 billion annually. While direct costs, including medical care and healthrelated services, generally accounted for two-thirds, indirect costs (e.g. lost work, caregiver time, impacts on mental health and social participation) were substantial, and underreported.

Our current framework for evaluating new treatments

Evidence shows that access to rare disease medicines in the UK lags behind other medicines and European countries.3 In the UK, the National Institute for Health and Care Excellence (NICE) decides whether new medicines should be funded by the NHS, aiming for effective care and value for money. Yet NICE’s evaluations predominantly focus on direct costs to the NHS and social care services, and impacts on quality of life, while indirect costs are often overlooked. Indirect costs largely fall on individuals with rare diseases and their families, exacerbating negative impacts on daily life, financial strain and caregiver burden. By not formally considering these costs, the full value of new treatments may not be fully recognised. There’s a need for a broader scope in NICE’s decision-making framework to ensure

Changing the future of healthcare through genomics

The Generation Study is providing earlier diagnoses and faster, life-changing treatment for babies around the country.

Ethat the socioeconomic benefits of innovative rare disease medicines, such as improved work participation and reduced caregiver time, are routinely considered.

An opportune time to drive change

There are several ongoing UK initiatives to improve access to new treatments, offering opportunities to ensure the socioeconomic burden of rare diseases is appropriately considered in policy decisions and treatment evaluations, and to drive real change in access to rare disease medicines. Despite 3.5 million people in the UK having a rare condition, treatment options remain scarce, with only 5% of rare diseases having a licensed therapy.2,4 Expanding evaluation frameworks to formally consider direct and indirect costs may accelerate access to innovative rare disease medicines, delivering substantial benefits to patients, families, and society by reducing the overall impact of these conditions.

References:

1. Klein, E. (2026). The hidden socioeconomic impacts of rare diseases in the UK. BIA.

2. DHSC (2025). England Rare Diseases Action Plan 2025. GOV.UK.

3. Newton, M. et al. (2025). EFPIA Patients W.A.I.T. Indicator 2024 Survey. IQVIA.

4. Kaufmann, P. (2018). Orphanet J Rare Dis. 2018 Nov 6;13(1):196.

Disclaimer

This article has been commissioned by Costello Medical. The referenced literature review was funded by the UK BioIndustry Association (BIA).

very year, thousands of babies are born in the UK with rare genetic conditions, and early intervention can enhance the health and quality of life of many babies.

The Generation Study is an innovative research study looking to improve how we screen for these conditions. It’s using whole genome sequencing to screen for over 200 rare conditions in 100,000 newborns, providing earlier diagnoses and access to critical treatment.

Life-changing impact

After his parents chose to participate in the study, Freddie Underhay was diagnosed with hereditary retinoblastoma — a rare form of eye cancer — four weeks after being born and having his genome sequenced. Early detection is crucial for preserving vision, but when there’s no family history or signs of a vision problem — like in Freddie’s case — diagnosis often comes later.

After having his genetic code analysed, Freddie was able to start treatment at a specialist centre treating retinoblastoma within

weeks, giving doctors the best chance to minimise the impact on his vision.

Freddie is one of more than 35,000 babies currently signed up to the study and one of over 90 results we’ve returned to the NHS where a condition is suspected. NHS specialists carry out important confirmatory tests; as with any screening programme, there’s a small chance of incorrect or uncertain results.

Every rare condition we’re looking for has an intervention available that could make a considerable difference in how that child grows up.

Generating important evidence

The UK Government has outlined its ambition for newborn genomic sequencing in its 10 Year Health Plan for England. The insights and evidence from the Generation Study will guide this, including the ‘whether’ and ‘how.’

Rare Disease Day is a powerful reminder of the need to improve the lives of people living with a rare condition. Genomics can play an important role in that and help get ahead of serious illness. And when completed, the Generation Study will generate first-of-its-kind evidence that could help to change the future of genetic health.

Advancing breakthrough science into life-changing medicines for rare disease

A bold scientific initiative is advancing promising rare disease discoveries, aiming to turn breakthrough research into future treatments for patients.

WRITTEN BY Matthew Wood, MD, PhD Director & Chief Scientific Officer, Oxford-Harrington Rare Disease Centre

Two years ago, the Oxford-Harrington Rare Disease Centre (OHC) made a commitment to advance 40 rare disease drugs into clinical trials by 2034. The partnership already has over 50 drugs in development — reflecting the urgency of unmet need and the strength of its model.

Central to this effort is its Rare Disease Scholar Award programme. Each year, ten academic investigators from the US, UK and Canada are selected to receive funding and translational support on projects ranging from neurodevelopmental, neuromuscular and metabolic disorders to rare cancers. Uniquely, Scholars also receive strategic guidance on all aspects of drug development, with the goal of accelerating projects towards clinical trials and de-risking them for further development and investment.

Providing hope for families

One of the newest Scholar projects focuses on CASK, a rare genetic disease that affects normal brain development, leading to severe physical and intellectual impairment and other debilitating symptoms. For families, the impact is devastating.

When Cindy Schulz’s daughter Noelle (‘Noni’) was a toddler, developmental delays became impossible to ignore. Despite multiple appointments, the cause of Noni’s condition could not be identified, and Cindy was told that there was no treatment plan beyond supportive care.

Noni faced significant intellectual and physical challenges and, although she learned to walk and talk, many everyday skills remained out of reach. So, Cindy focused on building a joyful, fulfilling life for her daughter. Now 42, Noni lives happily with her parents and has enjoyed working at a local grocery store for nearly 20 years.

Noni was 30 when genetic testing finally identified the cause: a rare mutation in the CASK gene. At the time, only around 50 individuals had been diagnosed. Today, CASK is estimated to affect about 2,000 individuals, and that number is growing as awareness and testing improve.

For many families, the hardest part of a rare disease diagnosis is the absence of a clear treatment path while promising academic discoveries often stall before becoming therapies, because of a lack of commercial incentives.

Transforming scientific discovery into treatments

A first-of-its-kind partnership between the University of Oxford and Harrington Discovery Institute at University Hospitals in Cleveland, the OHC connects world-class academic science with drug development and industry expertise to help transform promising discoveries into therapies and cures.

Enter Dr Mingshan Xue, a neuroscientist at

(“Noni”)Schulz|PhotocourtesyofCindySchulz

Baylor College of Medicine. Dr Xue has long studied the genetic pathways that shape brain development, and his interest in CASK began when he met a patient during his postdoctoral training. Confronted by its severity and the lack of effective treatments, he committed to finding a therapy. Through connections with families and advocacy groups, such as Project CASK, he understood the urgency.

As a supported Scholar, Dr Xue’s research focuses on developing a gene therapy to replace the dysfunctional gene with a functional copy, thereby addressing the root cause of the disease rather than just managing symptoms.

“What attracted me to this unique programme was access to deep drug development expertise,” Dr Xue explains. “Gene therapy requires coordinated scientific, regulatory and manufacturing planning. That integrated support is essential to move this toward patients.”

For many families, the hardest part of a rare disease diagnosis is the absence of a clear treatment path.

Advancing gene therapy for CASK

If successful, a disease-modifying therapy for CASK could significantly improve the development, health and quality of life of affected individuals.

“When Noni was young, effective therapy wasn’t even part of the conversation,” Cindy reflects. “Now, researchers are working to change the course of CASK, raising hopes for a cure that families have been praying for. It’s extraordinary.”

Progress in finding new treatments and cures for CASK and for many other rare diseases that collectively affect nearly 500 million people worldwide 1 will take time, and not every programme will succeed. But the convergence of determined families, focused science and translational partnerships like the OHC is reshaping what is possible.

References: 1. Harrington Discovery Institute. (2025). Oxford-Harrington Rare Disease Centre Announces 2025 Scholars Advancing Promising Treatments.