Facing Rare Diseases Head On

Genomic insights through artificial intelligence

  • Yael
    Diagnosed at 24 months
    HNRNPH2 gene mutation

We use facial analysis, deep learning and artificial intelligence to transform big data into actionable genomic intelligence to improve diagnostics and therapeutics. With the world’s largest network of clinicians, labs and researchers creating one of the fastest growing and most comprehensive genomic databases, FDNA is changing the game for rare disease patients.

The Problem

The Unseen Dilemma
Individually, rare diseases have a low prevalence, but in aggregate, more than 8,000 chronically-debilitating and life-threatening rare diseases impact 1 in 10 people.

The Diagnostic Odyssey
The lack of awareness and limited ability of physicians to diagnose these rare diseases leads to an average diagnostic journey of over 7 years, during which patients see an average of 7 different specialists.

An Interpretation Challenge
Despite high-throughput molecular testing becoming more available and affordable, the odds of finding a diagnosis remains only 25% without adequate patient data to help identify which genetic variants are clinically relevant.

Limited Patient Access
While the science, business and regulatory ecosystem supports drug development and commercialization for rare diseases, the scarcity of patients, and the limited access to them, hinders advancements in patient outcomes.

The Solution

FDNA is analyzing the world’s most comprehensive database of clinically relevant genomic and phenotypic information, crowdsourced from clinicians, labs and researchers. This real world data, along with FDNA’s technology, is giving the rare disease community access to tools that are solving the biggest problems in rare disease.

  • Clinicians and labs can now recognize syndrome-related phenotypes and disease-causing genes through facial analysis and artificial intelligence.
  • Researchers can now discover new clinical features and genes that can be used as disease-predicting biomarkers.
  • Drug developers can now access the data needed to develop, test and market treatments to rare disease patients globally.

Our Data

FDNA’s database includes an unprecedented depth of phenotypic and genotypic information associated with over 8,000 rare diseases and genetic disorders.

All of our data is crowdsourced from real-world patient cases through our broad network of clinical, lab and research users. The de-identified data from thousands of cases each month is collected using our smart phenotyping applications (Face2Gene Suite), stored in our HIPAA-compliant, cloud-based clinical warehouse platform, and integrated to LIMS, EMR and variant interpretation systems through a set of open APIs.

Our Network

Our platform brings together a global network of clinical geneticists, the world’s top molecular labs, and an integrated network of researchers and academia, specializing in rare diseases.

With users at more than 2,000 clinical sites globally, more than 65% of the clinical genetics market uses our platform as part of their routine workflow.

Our Technology

Deep learning technology analyzes photos, clinical features and genes using computer vision and artificial intelligence algorithms.

This analysis highlights syndromes and disease-causing genetic variants for healthcare providers to consider during patient evaluations. The comprehensive nature of the data collected supports using it to make rare disease discoveries, as well as using it to augment the interpretation of molecular test results by a full order of magnitude.

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