Artana Bio makes rare disease investible.

We turn fragmented biology into mechanism-defined patient cohorts that support drug development, basket trials, and capital allocation.

~600

Patients across our partner foundations

150+

Partner foundations across rare neurodevelopmental disease

2M+

Cross-species genotype-phenotype associations in the evidence layer

The Problem

The science exists. The economics don’t.

The biological insight to treat many rare diseases already exists. It is fragmented across literature, clinical data, and experimental systems. Each disease is treated as its own market. The math fails. Mechanism-based aggregation is what makes it work.

~200 patients with MED13 syndrome

Each ultra-rare diagnosis sits in its own silo. No investor, no payer, no pharma company will fund a $500M development program for a population that small.

$2.5M per-patient cost at that scale

Gene therapy development costs $500M–$2B. Divided across 200 ultra-rare patients, that is $2.5–7.5M each before manufacturing. The math does not work.

~$200K threshold where capital arrives

Platform approaches combined with mechanism-based clustering can reach the per-patient threshold where payers and investors engage. Only if the mechanistic groupings are scientifically rigorous.

The insight

Different diseases can share the same mechanism, and the same drug strategy.

Distinct genetic diseases converge on shared biological pathways, protein complexes, and cellular dysfunction. Group patients by mechanism instead of gene and populations aggregate, trials become feasible, and capital can be deployed.

Patient populations aggregate
From 200 patients alone to several thousand grouped by shared mechanism. The difference between uninvestible and investible.
Trial design becomes feasible
Umbrella and basket trials enroll across genes when the underlying mechanism is shared. The FDA Plausible Mechanism Framework now supports this.
Capital can be deployed
Mechanism-defined cohorts cross the per-patient threshold where payers and investors engage. PRVs ($150–205M) provide the exit.
Product · Artana Evidence

A reasoning layer that turns fragmented biology into investible, trial-ready cohorts.

Artana Evidence is a reasoning layer built on Mondo, Monarch, ClinVar, and AlphaFold. It connects these inputs with patient phenotypes and published literature into a single layer that packages mechanistic evidence into cohorts drug developers, foundations, and capital allocators can act on. This is not another knowledge graph. It is the layer that assembles existing resources into the holistic causal evidence that FDA basket trial submissions require.

Two cohort types

Target Cohorts
Shared druggable mechanism across diseases. One drug target. Many diseases.
Modality Cohorts
Patients across diseases addressable by the same therapeutic approach (gene therapy, gene editing, ASOs, small molecules) with shared clinical phenotype.

Each cohort includes

  • Defined patient population across diseases (size, criteria, phenotype mapping)
  • Ranked mechanistic hypothesis with supporting evidence
  • Linked evidence graph (literature, structural, clinical, registry data)
  • Therapeutic modality recommendations
  • Basket-trial design rationale aligned to FDA guidance
  • IND-supporting documentation + payer evidence framework (HRU, QoL, cohort sizing)
How it works

Five-step pipeline: Normalize → Connect → Infer → Validate → Package.

Expert variant analysis takes 20–40 hours. The platform is designed to reduce this by >90%, with a precision target of ≥85% against expert ground truth (Q2 2026 benchmarking underway).

01
Normalize
Standardize genes, variants, phenotypes, and clinical features across sources.
02
Connect
Link evidence into a unified graph, leveraging existing ontologies (Mondo, Monarch) rather than competing with them.
03
Infer
Identify shared mechanisms across diseases using cross-source reasoning.
04
Validate
Graduated oversight: every claim carries provenance and confidence scoring. Novel claims escalate to mandatory expert review.
05
Package
Deliver cohorts with full evidence provenance for downstream use.

Evidence sources integrated

ModalitySourceWhat it provides
Variant pathogenicityClinVar, AlphaMissenseWhich variants are damaging
Protein structureAlphaFold, cryo-EMHow variants disrupt binding
Cross-species phenotypesMonarch KG (100+ species)Mouse, fly, fish models that recapitulate human disease
Patient phenotypesPatient registries and natural history studiesClinical presentation across carriers
LiteraturePubMed (40M+ citations)Published mechanistic evidence
Preclinical validationFibroblasts, organoids, perturb-seq, mouseLab-tested confirmation of AI hypotheses
Calibration cohort

Three diseases, one protein complex, ~600 patients.

Our first foundation cohort comprises three separate diagnoses caused by mutations in different subunits of the same transcriptional kinase module. Fewer than 300 patients each. No investible path individually. Published research (iScience 2022) confirms convergent CCNC/mitochondrial pathology across patient-derived cell lines, supporting cross-gene grouping. Preclinical validation is underway across multiple lab partners covering fibroblasts and iPSC, brain organoids, perturb-seq screens, and mouse phenotyping.

But the investible cohort is larger. Biomarker-defined indications based on shared mechanism can expand the addressable population to 10,000+ patients in the US, because the therapeutic target is the biology, not the gene name.

From 200 patients alone to ~600 across three genes to 10,000+ defined by shared mechanism and drug response.
~600 is the proof of concept. Biomarker-defined expansion takes the cohort to investible scale.

Within-gene variation in drug response may exceed between-gene variation. The right indication boundary is biomarkers, not gene names.

The pipeline beyond our first cohort

Our first cohort is one of many. Two expansion axes: within-mechanism (biomarker-defined indication grows the addressable population from ~600 to 10,000+) and across-mechanisms (the founding kinase module has 26 core subunits; chromatin and transcription regulators are the next nodal cluster). The same mechanism-based grouping extends across monogenic rare disease.

Now
First foundation cohort
Foundation pediatric NDD diagnosed
~600
Preclinical underway
Next
Biomarker-defined indication
Drug-response markers within the first cohort
10,000+ US
In silico modeling with partner
Then
Full Mediator complex
26 core subunits
~5,000+ diagnosed
Perturb-seq screens validating
Then
Chromatin and transcription regulators
Nodal-biology cluster
~50,000+
Framework in place
Scale
All monogenic rare disease
Foundation distribution networks
300M+ affected
Long horizon
Why now

Biomarker-defined indications are FDA precedent today.

Keytruda’s 2017 tumor-agnostic approval established that a biomarker, not a tissue type, can define an indication. The same logic applies to rare disease: a shared mechanism, validated by a companion diagnostic, can define a cohort across gene boundaries. Recent FDA draft guidance and PRV reauthorization make the path stronger, not the foundation.

FDA precedent: biomarker defines indication
Keytruda’s 2017 tumor-agnostic approval (MSI-H/dMMR biomarker) established that a biomarker can define an indication across diseases. The same path applies to rare disease: shared mechanism plus companion diagnostic. This path exists today and does not depend on new guidance.
Plausible Mechanism Framework extends the path
FDA draft guidance (Feb 23 2026); comment period closed April 27 2026. Applies within a single gene; operationally extending across genes at IGI, CHOP, and Aurora Therapeutics.
Draft, not final. Additive to the established biomarker path.
Priority Review Vouchers reauthorized
Extended through Sep 2029. Verified secondary market: Jazz $200M, Fortress/Cyprium $205M, Abeona $155M, Ipsen $158M. Downstream financial incentive for any drug developed from our cohorts.
Business model

Evidence assets now. Platform at scale.

Near-term, we sell evidence assets: mechanistic variant reports, cohort analyses, and diligence packages. Each engagement generates data that trains the platform. By 2028, when the evidence base is large enough, R&D teams subscribe to run their own analyses. The services prove the platform works. The platform captures the margin. Every engagement makes the next one more precise. That is the compounding asset that distinguishes us from a consulting firm.

Today · Evidence assets (2026–2027)
Mechanistic variant reports, cohort analyses, and mechanistic diligence for foundations, biotechs, and rare disease funds. Engagement-based pricing.
2028+ · Platform at scale
Platform SaaS for R&D teams running their own analyses across the cohort library.
Team

Built by the team that has already assembled the data, patients, and infrastructure.

Three of us built rare disease knowledge systems together at CZI. Stanford clinical data infrastructure expertise. Patient-founder lived experience. Scientific Advisory Board across organoids, nodal biology, structural biology, and clinical genetics. Specific advisor and partner names are shared in fundraising and consulting conversations. Get in touch.

Amy Krystosik, PhD MPH
CEO & Co-founder
Built rare disease research infrastructure at CZI (Rare as One, 94 patient organizations). Founder of MED13 Foundation. Epidemiologist. Parent to a child with MED13 syndrome.
Álvaro Álvarez
CTO & Co-founder
Built clinical data pipelines at Stanford Medicine (EHR → research systems, PHI-ready, clean ontologies). Architect of the Artana Evidence platform.
Ed Krystosik
CFO
Former JP Morgan Private Client. Designed multi-product GTM and pricing across all offerings. Led competitive analysis and financial modeling.
Gully Burns, D.Phil.
AI Research Engineer
Former CZI. Ontology engineering and knowledge extraction. Evidence graph architecture and partner integration framework.
Security & Privacy

Built for regulated, high-stakes science.

Enterprise security isn't a feature tier. It's a design requirement. Artana Bio is architected from the ground up for institutions where access control and data integrity are non-negotiable.

Private by default

Data is never shared, indexed, or exposed across tenants. Isolation is enforced at the architecture level. Not governed by policy alone.

Role-based access controls

Define granular permissions per team member, project, and data class. Access is least-privilege by default and auditable at every layer.

Audit logging

Every query, curation action, and permission change is logged with full user attribution and timestamps. Ready for institutional review.

Encrypted data at rest and in transit

AES-256 at rest. TLS 1.3 in transit. Encryption keys are managed per-customer with configurable residency controls.

Enterprise deployment options

Deploy to your own cloud environment, on-premises infrastructure, or a dedicated hosted tenant. Full data residency control included.

Security overview

Precision medicine becomes viable when cohorts become investible.

We are not a drug company. We are not a CRO. We are not a database. We are the infrastructure layer that makes mechanism-based medicine actionable.

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