Discover how Institut Imagine and Tekkare® are working together to shorten the path from gene discovery to therapeutic target, with OIP Discovery® in the hands of researchers.
BY Ludivine Ludger Martin 7 September, 2026 5 min read
Ask most people what the hardest part of rare disease research is, and they will point to finding the gene related to the disease, and understanding the bimolecular pathways involved. In reality, sequencing has made gene identification faster every year. The bottleneck has moved downstream: turning a causative gene into a validated therapeutic target, and then carrying that target toward the clinic. That is where programmes stall, and it is the problem at the centre of the collaboration we are starting with the Institut Imagine.
Through a beta-test licence for OIP Discovery®, Imagine's teams are now using the platform on their own projects, with a direct feedback loop to Tekkare®. Here is what the partnership is trying to solve, and why we think a sourced, unified data layer belongs in rare disease research rather than alongside it.
The scale of the problem, in numbers
Rare diseases are not a niche. Orphanet lists more than 6,500 distinct conditions, roughly 72% of them from genetic origins, and affecting an estimated 300 million worldwide (EURORDIS). Individually rare, collectively they are everywhere.
The human cost sits in the diagnostic odyssey. EURORDIS's Rare Barometer survey, covering 6,507 patients living with 1,675 different rare diseases across 41 countries, found an average time to diagnosis of 4.7 years. One patient in four waited between 5 and 30 years, and 40% received at least one wrong diagnosis before the right one. These are not abstractions. They are years of a child's life spent between appointments.
Institut Imagine: a European hub for genetic diseases
Institut Imagine grew out of the Hôpital Necker-Enfants Malades in Paris, structured as a University Hospital Institute in 2011, on the conviction of clinicians and researchers, among them Alain Fischer, Arnold Munnich and Stanislas Lyonnet, that genetic disease could be understood and treated if research, care and teaching sat under one roof.
The scale is concrete. Around 1,000 researchers, engineers and technicians work across 24 research teams and 18 core facilities, connected to 31 centres for rare diseases. Since its founding, Imagine's scientists have identified more than 250 disease-causing genes and moved some 400 therapeutic and diagnostic solutions into preclinical or clinical development. This is not a place that needs help finding genes. It needs the step after that to move faster.
Where the time actually goes
Once a gene is implicated, a researcher has to assemble the surrounding evidence: which other groups have studied it, what is known about the protein and its druggability, whether any molecule has ever reached a trial for a related indication, what regulators have said, and how the associated disease is coded in Orphanet. Each of those answers lives in a different place. Clinical trial registries, PubMed and preprint servers, drug pipelines, FDA and EMA decisions, and genetic databases each hold one slice of the picture.
Reconciling them by hand is slow, and it is where errors creep in. A missed trial or an outdated approval status can send weeks of work in the wrong direction. This reconciliation is exactly the task Imagine wanted to compress, and it is the task OIP Discovery® was built for.
OIP Discovery®: a knowledge base tailored to rare diseases
OIP Discovery® brings those sources into a single, queryable layer. A researcher asks a question about a disease, a gene or a molecule in natural language, and receives the current state of knowledge with every answer dated and traceable to its source. In research, an unsourced result is close to useless, so traceability is not a feature, it is the point.
For rare diseases specifically, OIP Discovery® unifies PubMed publications, clinical trials, regulatory approvals and every scientific resource with its ORPHAcode, the standard Orphanet identifier. In practice that means a query on a rare condition returns not a keyword match but everything the platform can anchor to that disease's code, so a scattered evidence base becomes visible and navigable in one pass instead of a dozen. This builds on work that started well before this partnership and accelerated with RDK, our Rare Disease Knowledge app, and it continues through collaborations with institutions like Imagine.
Why do it in real conditions
We could have run a demonstration. We chose a beta-test licence instead, because a tool for rare disease research only earns its place when specialists use it on real projects and tell us where it saves time and where it still gets in the way. That feedback loop is what turns a software licence into a research collaboration, and it is the reason we work with a centre of Imagine's depth rather than testing in a vacuum.
The partnership also connects to a wider effort: Tekkare® is a task leader within ERDERA, the European Rare Diseases Research Alliance, contributing to research that improves diagnosis and care across the continent. Working with Imagine strengthens that contribution.
A shared conviction
The belief underneath this is simple. Used well, health data shortens the path from the laboratory to the patient, and in rare disease that path is measured in years of waiting. By combining Imagine's scientific depth with an infrastructure designed to make trusted knowledge reachable, we want to take time out of the step that has quietly become the hardest.
We will share more as the work progresses. For now, OIP Discovery® is in the hands of researchers working on some of the most complex diseases in medicine, doing real work, every day.
Sources: rare disease and diagnostic-delay figures from EURORDIS (Rare Barometer survey) and Orphanet; Institut Imagine figures from institutimagine.org.
