FDNA Company Profile

Background

Overview

FDNA, founded in 2011 by Moti Shniberg and Professor Lior Wolf, leverages artificial intelligence (AI) to expedite the diagnosis of rare diseases. The company developed the Face2Gene suite, which utilizes AI-powered image analysis to assist clinicians in identifying genetic disorders. Erik Feingold joined as Co-Founder and CEO, leading FDNA's mission to harness AI for advanced genetic health risk assessments and to connect patients with innovative therapies earlier.

Mission and Vision

FDNA's mission is to provide affordable access to care for individuals with developmental issues and rare diseases. The company aims to build a community that supports patients, families, healthcare professionals, researchers, pharmaceutical companies, and contract research organizations (CROs). By leveraging AI, FDNA seeks to improve the diagnosis process and promote access to affordable care.

Primary Area of Focus

FDNA focuses on AI-powered image analysis to aid in diagnosing developmental and genetic disorders, including rare diseases. The company's technologies capture, structure, and analyze complex human physiological data to produce actionable genomic insights.

Industry Significance

FDNA has established itself as a leader in AI-driven diagnostics for rare diseases, with its technologies used by 70% of the world's geneticists across over 10,000 clinical sites in more than 130 countries. The company's innovations have been recognized in peer-reviewed publications, including a study in Nature Medicine demonstrating the efficacy of its facial analysis technology in identifying genetic disorders.

Key Strategic Focus

Core Objectives

• Early Detection: Empower parents, school nurses, and pediatric specialists to identify potential developmental, neurological, and genetic conditions early.

• Clinical Support: Provide healthcare providers with decision support tools for diagnosis and care management tools for therapy.

• Data Interoperability: Offer a data clearinghouse that facilitates streamlined interoperability between healthcare providers, patients, and the pharmaceutical industry, including therapy services and CROs.

Specific Areas of Specialization

• Facial Analysis: Utilize AI to analyze facial features for identifying genetic syndromes.

• Next-Generation Phenotyping (NGP): Capture, structure, and analyze complex human physiological data to produce actionable genomic insights.

Key Technologies Utilized

• DeepGestalt®: An algorithm that maps images to potential syndromes.

• Gestalt Matcher™: An algorithm to discover new or rare syndromes and for patient matching.

• Feature Extraction Algorithm: Searches for facial characteristics using images and maps these characteristics to Human Phenotype Ontology (HPO) terms.

• Heat Maps: Provides clinicians with intuitive, visual references for why the DeepGestalt algorithm matched certain results.

• Focus Assessment: Guides the user through a post-image analysis assessment when the AI produces two or more high-confidence results.

Primary Markets or Conditions Targeted

• Rare Diseases: Focus on diagnosing rare genetic disorders.

• Developmental Delays: Assist in early detection of developmental issues.

• Neurological Conditions: Aid in identifying genetic components of neurological disorders.

Financials and Funding

Specific details regarding FDNA's total funds raised, recent funding rounds, and notable investors are not publicly disclosed. The company has established significant partnerships with leading genetic testing laboratories, such as GeneDx and Blueprint Genetics, to integrate its technologies into their diagnostic workflows. Additionally, FDNA has collaborated with Genome Medical to improve access to diagnostic services for children in medically underserved areas.

Pipeline Development

FDNA's primary product, Face2Gene, is continually updated to enhance its diagnostic capabilities. The company has integrated its technologies into the genetic testing workflows of various labs, including GeneDx and Blueprint Genetics, to improve the speed and accuracy of rare disease diagnoses. Additionally, FDNA has collaborated with Genome Medical to provide telehealth genetic counseling services, aiming to shorten the diagnostic journey for children with suspected developmental, neurological, and genetic conditions.

Technological Platform and Innovation

Proprietary Technologies

• DeepGestalt®: An AI algorithm that analyzes facial features to identify potential genetic syndromes.

• Gestalt Matcher™: An algorithm designed to discover new or rare syndromes and assist in patient matching.

• Feature Extraction Algorithm: Utilizes image analysis to search for facial characteristics and maps these features to HPO terms.

Significant Scientific Methods

• Deep Learning: Applied to facial analysis for identifying genetic disorders.

• Next-Generation Phenotyping (NGP): Captures, structures, and analyzes complex human physiological data to produce actionable genomic insights.

Leadership Team

• Erik A. Feingold: CEO & Co-founder.

• Moti Shniberg: Chairman.

• Karen Gripp: Chief Medical Officer.

• Aviram Bar Haim: Research & AI Executive.

• Francisco Tassi: General Counsel.

• Pierluigi Failla: Head of AI.

• Stefanie Eichner: Head of Business Operations.

• Moshe Gabay: Chief Product and Technology Officer.

Leadership Changes

Specific details regarding recent significant changes or appointments within FDNA's leadership are not publicly disclosed.

Competitor Profile

Market Insights and Dynamics

The market for AI-driven diagnostics in rare diseases is growing, with increasing adoption of AI technologies to enhance diagnostic accuracy and speed. The integration of AI into genetic testing workflows is becoming a standard in the industry.

Competitor Analysis

• GeneDx: A leader in genomics with expertise in rare and ultra-rare genetic disorders, offering a broad range of sequencing services.

• Blueprint Genetics: Provides comprehensive genetic testing services through innovative technologies, including DNA sequencing and clinical interpretation in human rare diseases.

• Ambry Genetics: Specializes in genetic testing and research, offering a wide array of services for various conditions.

• Variantyx: Focuses on genomic diagnostics, providing comprehensive testing solutions for rare diseases.

• Fulgent Genetics: Offers a broad spectrum of genetic testing services, including next-generation sequencing and microarray testing.

Strategic Collaborations and Partnerships

• PerkinElmer: Collaborated to offer enhanced genetic testing augmented by AI and facial analysis through Face2Gene LABS.

• GeneDx and Blueprint Genetics: Launched Face2Gene LABS to integrate FDNA's analysis into genetic testing workflows, enabling real-time sharing of phenotypic data.

• Genome Medical: Partnered to improve access to diagnostic services for children in medically underserved areas, combining AI technology with telehealth genetic counseling services.

Operational Insights

FDNA's strategic collaborations with leading genetic testing laboratories and telehealth services enhance its market position by integrating AI-driven diagnostics into established workflows, thereby improving diagnostic accuracy and speed for rare diseases.

Strategic Opportunities and Future Directions

FDNA is well-positioned to expand its AI capabilities to support various input modalities, including video, audio, and imaging systems. The company's focus on establishing partnerships with healthcare professionals aims to build a better healthcare ecosystem, promoting early detection and access to affordable care. By leveraging its technological platforms and strategic collaborations, FDNA seeks to continue advancing the diagnosis and management of rare diseases.