Face2Gene GestaltMatcher Inside

GestaltMatcher. Inside Face2Gene.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
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What is GestaltMatcher?

GestaltMatcher is a deep learning technology that matches rare disease patients’ photos with other patients’ photos around the world instantaneously, thus, potentially helping to accelerate the clinical diagnosis by medical professionals of patients with ultra-rare disorders as well as enable the definition of new syndromes. The proprietary technology strengthens next-generation phenotyping (NGP) — the capture, structuring, and analysis of complex human physiological data — by allowing medical professionals to identify hundreds of additional disorders just with facial analysis.

 

How does Face2Gene GestaltMatcher algorithm works with ultra-rare cases?

FDNA’s breakthrough study findings were published in the esteemed peer-reviewed journal Nature Genetics, in a paper titled “GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.” In collaboration with a team of influential scientists and researchers, the study on the use of facial analysis as a tool to help detect rare genetic disorders found that FDNA’s technology could accelerate the clinical diagnosis by medical professionals of patients with ultra-rare disorders and facial dysmorphism, as well as enable the definition of new syndromes.

As an example, the picture bellow shows a patient’s ultra-rare disease caused by mutations in LEMD2 that was matched with another patient with the same ultra-rare disorder, leading to the diagnosis.

(source: Nature Genetics).

Key findings from the study include:

  • GestaltMatcher is an AI technology that is used to identify the facial representations of more than 1,000 rare genetic diseases and distills facial features into a multi -dimensional space, which helps medical professionals to accelerate the matching and diagnosing of ultra-rare disorders.
  • Adds significant value to phenotypic evaluations in clinical genetics, research and genetic testing (NGS).
  • GestaltMatcher achieves a comparable top-10-accuracy on all previously supported disorders and matches one third of cases with an ultra-rare or novel disorder. The study was conducted on 17,560 portrait photos from patients with 1,115 rare disorders.

Diagnosing a Patient with the Help of
Face2Gene GestaltMatcher

Dr. Himanshu Goel, a clinical geneticist in Newcastle, Australia, used the help of Face2Gene photo-based GestaltMatcher technology to diagnose a 26-year-old patient with the Chromosome 17q21.31 Duplication Syndrome –  the first ultra-rare syndrome case diagnosed with FDNA’s proprietary AI Technology. FDNA’s innovative photo-based AI was able to support Dr. Goel in making the diagnosis in quick time, although very few photos of diagnosed reference patients are available.

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Using GestaltMatcher in your research

Carolina Alves, FDNA Senior Ai Researcher, talks about how can you use GestaltMatcher technology in your research, presented as part of the webinar “A Novel Syndrome Associated With Prenatal Fentanyl Exposure” conducted on Dec 4, 2023.

GestaltMatcher technology in Face2Gene CLINIC

Watch part 2 of the webinar “Matching ultra-rare cases in the clinic”, that showcases the technology behind the GestaltMatcher algorithm in Face2Gene CLINIC that helps identify undiagnosed cases and match ultra-rare ones.

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