Buchet
12 sep 2026
September 2026 has brought several interesting developments in rare diseases and neonatal medicine.
Taken separately, they tell us about genomics, proteomics, premature babies, European networks and paediatric research.
Taken together, however, they tell a much bigger story.
Medicine is becoming increasingly sophisticated at identifying very small patient populations. Our healthcare systems now need to become equally sophisticated at reaching them.
From finding the gene to finding the patient
One of the most interesting recent developments came on 10 September 2026.
Researchers from Queen Mary University of London, the Berlin Institute of Health at Charité and Genomics England reported that combining blood proteomics with genomic information could provide additional diagnostic clues for patients with rare diseases who had remained undiagnosed after genome sequencing.
The researchers measured nearly 1,500 proteins in blood samples from patients involved in the 100,000 Genomes Project. Protein information helped clarify some uncertain genetic findings and provided evidence supporting diagnoses in some patients.
Central story — Blood protein analysis could help diagnose rare diseases missed by genome sequencing, 10 September 2026
This is scientifically fascinating.
Genome sequencing has already transformed rare-disease diagnosis. Adding functional biological information such as proteomics may help extract even more information from genomic data and potentially provide answers for patients who have spent years without a diagnosis. The researchers rightly stress that this is proof-of-principle rather than a universal diagnostic solution.
But from a healthcare-access perspective, it also raises another question.
What happens after we find the patient?
A diagnosis is an extraordinary milestone for a family that may have spent years searching for answers.
But diagnosis does not automatically mean access.
There still needs to be a specialist who understands the condition.
There needs to be an appropriate care pathway.
If a treatment exists, it needs to be available, financed and accessible.
And all those pieces need to connect.
Finding the patient is therefore not the end of the rare-disease journey. In many ways, it is where the next challenge begins.
Rare diseases: individually small, collectively enormous
The European numbers illustrate the paradox particularly well.
Between 27 and 36 million people in the European Union are living with a rare disease, spread across an estimated 6,000 to 8,000 different conditions.
https://health.ec.europa.eu/rare-diseases-and-european-reference-networks_en
That means rare diseases are simultaneously a major public-health issue and thousands of very small individual healthcare challenges.
And this changes almost everything about how care needs to be organised.
Expertise cannot exist everywhere.
Patient numbers may be too small for conventional clinical development models.
Commercial volumes may be tiny.
Evidence generation becomes difficult.
Manufacturing and distribution still have to remain sustainable.
And reimbursement systems designed for much larger patient populations may struggle with conditions affecting only a handful of people.
Small patient populations do not create small problems. They create different problems.
Neonatology makes the paradox even more visible
Perhaps nowhere is this more apparent than in neonatal medicine.
https://health.ec.europa.eu/medicinal-products/product-types/medicines-children_en
A premature newborn is not simply a smaller child. Physiology, pharmacokinetics, formulation requirements and dosing can all be profoundly different.
Yet the population eligible for a particular neonatal intervention may be extremely small.
A neonatal intensive care unit may encounter only a few eligible babies each year.
From a traditional pharmaceutical perspective, that can represent an almost negligible market.
From the perspective of those babies and their families, it is anything but negligible.
A particularly interesting example was published on 8 September 2026.
Researchers led by the University of Bristol analysed NHS maternity and neonatal data between 2014 and 2024 for babies born at 24–30 weeks’ gestation. They found that regional and socioeconomic inequalities in access to antenatal magnesium sulphate had narrowed substantially following implementation of England’s national PReCePT quality-improvement programme.
Premature babies and more equitable access — University of Bristol, 8 September 2026
The importance of this example goes far beyond one intervention.
It demonstrates something fundamental:
Having an effective medical intervention is not enough. Healthcare systems must organise themselves so that eligible patients actually receive it.
In other words, innovation and evidence are only two components of access.
Implementation matters.
The value of a medicine cannot always be measured by its volume
This leads to one of the most difficult questions in highly specialised medicine.
What happens when healthcare value and commercial volume diverge?
Consider a hypothetical treatment required by only five patients per year in a country.
The annual pharmaceutical market may be tiny.
But there are still regulatory obligations, pharmacovigilance, manufacturing requirements, quality systems, distribution costs, hospital procedures, medical information needs and sometimes highly specialised logistics.
The infrastructure does not become five times simpler because there are only five patients.
Sometimes the opposite happens.
The smaller and more geographically dispersed the population becomes, the more coordination is required.
That tension becomes even more visible in paediatric medicine.
On 2 September, the European Parliament’s Committee on Public Health discussed the continuing lack of treatments developed specifically for paediatric cancers. Researchers and patient representatives highlighted how very small populations can weaken conventional commercial incentives for developing new treatments.
European debate on treatments for very small paediatric populations — 4 September 2026
Approximately 35,000 children are diagnosed with cancer in Europe each year, according to figures presented during that discussion, while individual paediatric tumour types can represent dramatically smaller populations.
This is not simply a pharmaceutical-industry question.
It is a societal one:
How do we create sustainable models when medical need is high but patient numbers are extremely low?
Expertise should travel
Europe has already developed one important part of the answer.
The European Reference Networks (ERNs) bring together specialist hospital centres across borders for rare, low-prevalence and complex diseases requiring highly specialised healthcare.
And this subject is particularly current: on 7 September 2026, the European Commission announced that its new publication European Reference Networks: A success story for patients living with a rare disease had become available in 17 language versions.
European Commission — latest Rare Diseases and European Reference Networks updates
The philosophy behind these networks is particularly relevant to the future of rare-disease medicine.
Expertise should travel whenever possible rather than forcing every patient to travel to expertise.
That principle becomes increasingly powerful as diagnostic technologies identify ever smaller and more precisely characterised patient populations.
It is unrealistic to expect every hospital to develop expertise in thousands of rare conditions.
It is much more realistic to connect clinicians, centres, laboratories and expertise.
The Benelux is an interesting laboratory
This question is particularly relevant in the Benelux.
Belgium, the Netherlands and Luxembourg form a relatively compact geographical area with excellent hospitals, universities and specialist expertise.
Patients, specialists and centres of excellence may be separated by surprisingly short physical distances.
Yet they remain separated by different reimbursement mechanisms, pricing systems, procurement processes and healthcare structures.
Disease biology does not change at the border. Healthcare systems do.
For companies and organisations working with very small patient populations, understanding those differences is not merely a commercial or administrative exercise.
It becomes part of patient access.
And as treatments become increasingly personalised and patient populations increasingly fragmented, closer collaboration between expert centres, healthcare systems and countries will become even more important.
Access is a chain
We sometimes speak about bringing a medicine “to market” as though market authorisation were the finish line.
For specialised medicine, it rarely is.
The real pathway looks more like this:
Diagnosis → Specialist expertise → Regulatory approval → Pricing → Reimbursement → Procurement → Hospital → Physician → Patient
Every arrow matters.
A break anywhere in that chain can mean that an innovation exists scientifically but does not exist practically for the patient.
This is why the concept of the last mile deserves much more attention in rare diseases and neonatal medicine.
Developing an innovative therapy may require years of extraordinary science.
But the final kilometres between availability and the individual patient remain essential.
Think in patients, not boxes
There is consequently another way of looking at specialised pharmaceutical markets.
Instead of starting with:
How many units can we sell?
start with:
How many patients are there?
Where are they?
Who treats them?
Where is the expertise?
How are they diagnosed?
What prevents them from accessing appropriate care?
What would remove those barriers?
And what needs to happen to ensure that the system remains sustainable even if the answer is only five, ten or fifty patients per year?
That changes the conversation.
It moves us from volume to value, from distribution to access, and ultimately from products to patients.
From scientific innovation to healthcare reality
The developments of the past few days illustrate how rapidly specialised medicine is evolving.
Proteomics may help extract additional diagnostic information when genomics alone leaves questions unanswered.
National implementation programmes can reduce inequalities in access to neonatal interventions.
European policymakers are debating how to stimulate development where paediatric populations are too small to fit conventional economic models.
And European Reference Networks continue to build cross-border connections between the expertise required by patients with rare and complex diseases.
These may look like separate developments.
I believe they are pieces of the same puzzle.
-SCIENCE identifies the patient.
-EXPERTISE understands the patient.
-HEALTHCARE SYSTEMS create the pathway.
-ACCESS connects everything to the patient.
And ultimately, that final connection is what matters.
Small populations. Individual lives.
Healthcare value cannot always be measured by volume.
A population of five patients is statistically small.
For those five patients and their families, it is everything.
A neonatal intervention used in only a handful of premature babies may never represent a significant pharmaceutical market.
But for the baby who needs it today, annual national sales are irrelevant.
That is why rare diseases and neonatal medicine require a different mindset — one combining science, specialised medical expertise, market access, hospital understanding, logistics and collaboration across institutions and borders.
The ultimate question is remarkably simple:
Can the right patient access the right care, at the right time, in the right place?
When patient populations become very small, every individual patient becomes visible.
And every patient counts.