Want to learn how to perform and publish novel clinical research analyses using Face2Gene? Here’s some information to help you learn more and get started!


Why Face2Gene RESEARCH?

Using the Face2Gene RESEARCH app, you can leverage FDNA’s unique facial analysis technology to create collaborative research projects with your colleagues around the world. You can also use it to analyze your own clinical cohorts to:

  • Confirm the presence of distinct facial patterns in novel syndromes
  • Assess Face2Gene’s performance for your syndrome cohorts
  • Explore the variables that may impact facial phenotype, such as age, treatment status, or causative gene


How To Get Started

Enter your research cases in Face2Gene CLINIC (learn how) and use Face2Gene RESEARCH to create a new project.

Watch this brief demo | Check out our FAQs


The Results

For inspiration, check out past research conducted using Face2Gene:

  • Amudhavali et al. developed a facial model for Aymé‐Gripp syndrome and validated the use of the model to distinguish patient with Aymé‐Gripp from patient with Down syndrome
  • Liehr et al. evaluated the use of Face2Gene to distinguish between patients with Emanuel syndrome and those with Pallister-Killian syndrome have distinct facial patterns from one another and from other syndromes with small supernumerary marker chromosomes
  • Zarate et al. assessed performance of F2G for recognizing patients with SATB2-associated syndrome, and highlighted key facial patterns with the development of facial composite
  • Pantel et al. Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. J Inherit Metab Dis.
  • Monseny et al. From gestalt to gene: early predictive dysmorphic  features of PMM2-CDG. J Med Genet.
  • Vorravanpreecha et al. Studying Down syndrome recognition probabilities in Thai children with de‐identified computer‐aided facial analysis American Journal of Medical Genetics. Am J Med Genet Part A.

Face2Gene User Community Includes Users From:

  • Using Face2Gene to reference all my department’s cases, share information with my colleagues and quickly look up relevant information in the London Medical Databases Online saves me hours of work every week and allows me to focus on my patients.

    Dr. Ibrahim Akalin

    Assoc. Prof. Ibrahim Akalin, MD, Medical Geneticist from the Istanbul Medeniyet University, Istanbul, Turkey

  • FDNA’s game-changing technology introduces an objective computer-aided dimension to the “art of dysmorphology”, transforming the analysis into an evidence-based science.

    Dr. Michael R. Hayden

    Chairman of FDNA’s Scientific Advisory Board & Steering Committee and Editor in Chief of Clinical Genetics

  • FDNA is developing technology that has the potential to help so many physicians and families by bringing them closer to a diagnosis- there are literally millions of individuals with unusual features around the world that lack a diagnosis and therefore lack information on natural history, recurrence risk and prevention of known complications.

    Dr. Judith G. Hall

    Professor Emerita of Pediatrics & Medical Genetics UBC & Children's and Women's Health Centre of BC

  • FDNA has been “right on the money”, providing me with relevant, accurate and insightful information for differential diagnoses.

    Dr. Cynthia J.R. Curry

    Professor of Pediatrics UCSF, Adjunct Professor of Pediatrics Stanford

  • I am excited to be a part of the FDNA community, promoting broad information sharing with my peers to amplify the scientific and clinical value of our community’s accumulated knowledge for the purpose of efficiently diagnosing individuals with rare genetic disorders.

    Dr. Karen W. Gripp

    Chief, Division of Medical Genetics A.I. duPont Hospital for Children

  • FDNA's idea of incorporating several dysmorphology resources (OMIM, GeneReviews), supported by their visual analytic technology, will be able to improve researching of genetic syndromes - all within a single mobile app.

    Dr. Chad Haldeman-Englert

    Assistant Professor Pediatrics at Mission Fullerton Genetics

  • Given the advancement of visual analytical technology, it’s about time Dysmorphology is supported with computational capabilities and moving this to mobile support, is simply the next logical step.

    Dr. Chanika Phornphutkul

    Associate Professor of Pediatrics Director, Division of Human Genetics Department of Pediatrics Warren Alpert Medical School of Brown University

  • Having an archive of cases easily accessible from my mobile device anytime and anywhere is a long-time unmet need.

    Dr. Lynne Bird

    Rady Children's Specialists of San Diego

  • FDNA's solution is a huge leap forward for dysmorphology. It saves me significant time when I’m evaluating patients in my clinic and provides me with insightful tools that help me generate a differential diagnosis.

    Dr. David A. Chitayat

    Head of the Prenatal Diagnosis and Medical Genetics Program at Mount Sinai Hospital, Toronto

  • Shortly after learning about Face2Gene, I’ve started to incorporate this amazing tool into my workflow. Soon enough, Face2Gene’s analysis flushed out references that I would not have considered for several of my patients, which turned out to be their correct diagnosis

    Dr. Zvi U. Borochowitz

    Chairman (Retired) of The Simon Winter Institute for Human Genetics at Bnai-Zion Medical Center, Technion-Rappaport Faculty of Medicine

  • The Unknown Forum from Face2Gene is a great community platform for exchanging opinions regarding undiagnosed cases. It is straightforward to use and safe for exchange of medical data, thanks to the efforts of its developers and to the involvement of geneticists worldwide.

    Dr. Oana Moldovan

    Clinical Geneticist at the Hospital Santa Maria, CHLN, Lisbon, Portugal