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Using photos of additional family members to increase prediction accuracy

Scientific Challenge: 
Is the clinically relevant information in a photo of an affected individual more effectively recognized if photos e.g. of the parents are also submitted to Face2Gene?

 Approach:

For each photo that is analyzed in Face2Gene a list of 30 syndrome-matches is generated that reflect the facial similarity to these disorders. For unaffected family members, the suggested differential diagnoses are clinically irrelevant, but they might still be used to improve the prediction results for the affected individual and improve signal/ noise ratio in Face2Gene. 

 

We have anecdotal evidence suggesting the usefulness of additional photos of family members, for each of the following three scenarios:

  • A dominant phenotypic feature with reduced penetrance, a high similarity score for the same disorder in one parent might be supporting evidence. (Such as craniofacial synostosis- syndromes)

  • A dominant feature that usually occurs de novo, any suggested diagnosis in the patient becomes more likely if it is not listed in any of the parents.
    (Such as many intellectual disability- syndromes)

  • A recessive feature, both parents must be carriers of pathogenic mutations and the occurrence of the same disorder in mother and father, even with low scores, might be supportive.

 How To & Requirements:

  1. Create a case in Face2Gene and annotate clinical features
  2. Create a different case for mother and a third case for father
  3. Assign diagnosis or differential.
  4. Send email to research@fdna.com with the 3 case numbers. (in development: to analyze all pertinent photos within one case)

Benefits:

  • Co-authorship in publication 

 

PI: Prof. Peter Krawitz, U K Bonn, Germany 

 

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