FDNA


Developer of AI-driven phenotyping technologies and data services to support earlier detection and diagnostic prioritization of developmental, genetic, and rare diseases. The company combines image analysis, structured symptom assessment, clinical-note NLP and genomic data to produce decision-support outputs for clinicians, laboratories, and research partners, and maintains a de-identified phenotypic database used for model development and cohort analytics.

Industries

artificial-intelligence
genetics
health-care
mhealth
personal-health

Nr. of Employees

small (1-50)


Patents

Systems, methods, and computer-readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature

US-10722181-B2

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Systems, methods, and computer-readable media for patient image analysis to identify new diseases

US-10667689-B2

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Systems, methods, and computer-readable media for gene and genetic variant prioritization

US-10470659-B2

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Systems, methods, and computer-readable media for patient image analysis to identify new diseases

US-10327637-B2

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Systems, methods, and computer-readable media for determining a likely presence of a genetic disorder

US-10165983-B2

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Systems, methods, and computer-readable media for time lapse image comparison in genetic disorder analysis

US-10016167-B2

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Products

Clinician image-analysis application

Clinician-facing application that analyzes patient images and structured phenotypic inputs to prioritize syndromic diagnoses and suggest specialist referrals.

Laboratory phenotypic integration service

Laboratory-facing service that accepts structured phenotype data to assist variant interpretation and improve molecular diagnostic workflows.

Patient-facing family symptom-assessment app

Mobile/web application that guides caregivers through structured symptom assessments to flag potential developmental or genetic concerns and connect with providers.


Services

Cloud-hosted application that analyzes patient images and structured features to generate prioritized differential syndromes and referral suggestions.

Integrations and data services that provide structured phenotype information to molecular diagnostic laboratories and variant-interpretation pipelines to improve variant prioritization and diagnostic yield.

Cohort-building, de-identified data curation and analytics to support academic and industry research into rare diseases and phenotypic discovery.

Data exchange and interoperability services that connect patients, providers, labs and industry partners while managing consent and privacy controls.

Professional services and technical integrations to connect phenotypic analytics with cloud genomics platforms and variant-analysis pipelines for scalable storage, compute and molecular interpretation.

Expertise Areas

  • Next-generation phenotyping (deep phenotyping)
  • Clinical decision support for rare-disease diagnostics
  • Phenotype–genotype data integration and variant prioritization
  • Clinical NLP and ontology mapping (HPO)
  • Show More (4)

Key Technologies

  • Deep learning for facial image analysis
  • Natural language processing for clinical text
  • Multi-modal data fusion (image, text, video, voice)
  • Ontology mapping to Human Phenotype Ontology (HPO)
  • Show More (4)

News & Updates

Addition of a gene-search capability allowing clinicians to find genotype–phenotype correlations from phenotypic analysis outputs to assist interpretation of sequencing results.

Announcement of collaboration to integrate phenotyping technologies with commercial cloud genomics infrastructure and variant-analysis pipelines to support clinical genomics workloads.

Description of integration with a clinical genomics center to connect phenotypes and genotypes for seamless molecular interpretation and multi-site cohort generation.

Discussion of how next-generation phenotyping combined with sequencing can increase diagnostic performance and improve variant interpretation workflows.

Technology reported as used in more than 10,000 medical centers, clinics and hospitals worldwide and in 130+ countries.

More than 100 peer-reviewed publications and articles referencing the company's phenotyping technologies and methods.

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