The Rare Disease Patient Intelligence Partner
Identifying Rare Patients. Precisely. Earlier. Globally.
Proven at scale: We identify patients for gene-based rare diseases data-driven, not estimated — accelerating your development timeline from day one.
Facts about subrosa OmicsAI Team
Global Patient Recruitment, Identification & Biomarker Programs
Recruitment = trial enrolment · Identification = finding undiagnosed / misdiagnosed patients (incl. post-launch) · Biomarker & omics = molecular stratification
Illuminating the unseen — no rare disease patient should be left behind.
Rare genetic disorders, found years earlier
For a child with a rare disease, the most expensive number in medicine is not the price of a therapy. It is the diagnostic odyssey — on average five to ten years, dozens of specialists, irreversible damage that a timely diagnosis would have prevented.
Today subrosa OmicsAI steps out of stealth mode (www.subrosa.health). After nine years, a global ecosystem across 21 countries and 45 markets is now visible — built around one conviction: no patient should be left behind.
As CEO of subrosa OmicsAI, the part closest to my heart is early diagnosis. In rare disease, time is not a logistics problem. It is the difference between a treatable patient and an untreatable one. Most genetic conditions are progressive; every undiagnosed year closes a therapeutic window that does not reopen.
This is why we built our patient-identification programs on genetically confirmed, real-world data rather than estimates — to find the “unseen” years earlier than today’s standards, proven across more than 40 published programs. Earlier diagnosis is what makes orphan therapies reach the patients who can still benefit.
Welcome to subrosa. Illuminating the unseen.
subrosa OmicsAI turns genomic data into early diagnosis — before irreversible damage.
Identifying Rare Early Precisely Globally
With patients at the forefront of everything we do, subrosa OmicsAI’s scientists from 29 offices across the US, Europe, China, APAC, CIS, GCC and LATAM run clinical programs to identify new patient cohorts with genetic rare diseases years earlier than today’s standards — hitting a precisely calculated success rate. Proven in more than 40 global projects. Published.
We combine genetically confirmed clinical data from one of the world’s largest proprietary rare-disease patient databases with deep scientific knowledge — leveraging our global KOL network and sustained communication to physicians & patients across the full clinical journey, under one roof.
subrosa OmicsAI defines the real rare-disease prevalences, incidences and market sizes, speeds up clinical trials, develops biomarkers, increases patient populations, accelerates disease awareness, and ensures that identified patients are treated and stay adherent — across all markets, with or without product authorization.
This is patient access by subrosa OmicsAI: medical and commercial impact through real-patient evidence data. BE ACCELERATED.
Every rare disease patient deserves a diagnosis — before it is too late
subrosa OmicsAI replaces diagnostic guesswork with data-driven precision. Our global real-world evidence platform integrates genetically confirmed patients, deep multi-omics characterization, and advanced AI — identifying patients years earlier than today’s diagnostic standards allow.
We partner with pharma to de-risk patient finding, accelerate trials by 30–40%, and validate market potential — unlocking up to 5x more patients than historical estimates, ensuring treatment reaches those who need it most.
Identifying Rare Patients. Precisely. Earlier. Globally. The only data-proven advantage that changes patient outcomes.
A strategic partner for orphan drug success
subrosa OmicsAI is a strategic partner for all pharmaceutical companies with market approval or phase 3/4 clinical trial for any orphan drug with a genetic indication
We find, characterize, and sub-stratify your target patients using validated multi-omics technologies and AI-driven analytics to
- Eliminate patient finding uncertainty,
- Accelerate clinical timelines by 30–40%, and
- Strengthen regulatory and market access positioning.
In orphan drug development, every day of delay is a day without therapy for a patient. Our proven multi-omics pipeline delivers the precision intelligence your program needs — faster, earlier, and with data you can trust.
Global delivery, region by region
| 40 studies | 6 global regions | 41 countries | ||||
|---|---|---|---|---|---|---|
| OmicsAI — Service | US / Canada | Europe | Japan & APAC | Middle East | Russia & CIS | LATAM |
| Clinical Trial Management / Patient recruitment | ✓✓ | ✓✓✓✓ | ✓✓ | ✓ | ✓ | ✓ |
| Patient identification post Launch | ✓✓ | ✓✓✓ | ✓ | ✓ | ✓ | ✓ |
| Market size evaluation & validation | ✓✓ | ✓✓✓ | ✗ | ✓ | ✓ | ✓ |
| Biomarker-Development | ✓ | ✓✓✓ | ✓✓✓ | ✓ | ✓✓ | ✓✓ |
| Consulting study strategy | ✓✓ | ✓✓✓✓ | ✓✓✓ | ✓✓ | ✗ | ✓✓ |
subrosa OmicsAI´s Proprietary Patient Database Source Information
where it comes from and how it grows permanently.
* Observational, epidemiological, non-interventional (OENI) clinical programs – approved by Ethics Committees
As part of subrosa´s global eco-system we are able to add rare disease patient cases from various sources every day.
subrosa OmicsAI Services
Transforming the way rare genetic diseases are identified.
- Early Detection of Genetic Diseases
- Validating Target Populations with Real-World Prevalence Data
- OENI Study* Program
- Multi-Omics Gene Database Technologies
- Global Patient Recruitment Program
- Patient Registry & Support Program
- Clinical Trial Management
- Developing Predictive Algorithms for Early Diagnosis Tools
- Global Patient Identification Program
- Patient Registry & Support Program
- Reaching Undiagnosed Patient Populations
- Go-to-Market-Strategies/Commercialization
Identifying Rare Precisely Early Globally
* OENI = Observational Epidemiological Non-Interventional Study
The subrosa OmicsAI Advantage
The only partner that turns genetically confirmed real-world patient data into your competitive advantage — across trials, market access and valuation.
Identifying Rare Patients. Precisely. Earlier. Globally.
What sets us apart — Three layers of differentiation no CRO or data provider can replicate
Over 58,000 rare disease patients recruited across 48+ countries — genetically confirmed, clinically deep-characterized, longitudinally followed. Not modeled. Not estimated. Real.
▸ Proof: ROPAD study — 12,580 PD patients from 122 sites in 9 months
We go beyond diagnosis: genomics, transcriptomics, proteomics and metabolomics combined with AI models sub-stratify patients into clinically actionable groups — de-risking your trial design from day one.
▸ Proof: HAE study — 150× higher prevalence in targeted screening vs. general population
Our epidemiological programs have consistently shown patient pools 4–5× larger than pharma estimated — translating directly into higher market confidence and stronger regulatory submissions.
▸ Proof: Validated programs showed 4–5× implied value uplift for rare disease assets
Patient Adherence Programs in Cooperation with 42health
Our Strategy for Identification, Treatment and Adherence of Patients with Rare Diseases
Understanding the indication and therapeutic options
The progression of the disease, the complexity of the treatment, the costs of treatment, and alternative treatments are the basis for a tailor-made concept.
Analyzing the Omics AI Rare Disease patient database (genetically confirmed clinical data)
Specific early manifestation symptom clusters for early detection of gene based rare diseases & proportion (x out of 1,000) of patients with the specific rare disease
Identifying patients with a rare disease through a study
The symptom cluster identified in the analysis is an inclusion criterion for a study. Genome analysis of all study participants clearly identifies patients with a rare disease.
Referring patients to designated physicians for targeted treatment
Peer-2-Peer communication between the physician from the 42health team and the patient’s primary care physician ensures targeted therapy either at the primary care physician’s office or at a specialist’s office.
Supporting patients throughout the duration of therapy
Patients are given access to a patient support program via their family doctor or specialist to increase compliance, adherence, and persistence.
Identifying Rare Patients Precisely Earlier Globally
Partner with subrosa OmicsAI to de-risk patient finding and accelerate your orphan drug program.