Face2Gene RESEARCH App FAQ

RESEARCH App FAQs

For Common FAQs about Face2Gene, visit this page.

Starting a project is easy! Some things you will need to start:

  1. A Face2Gene account
  2. FDNA’s research committee’s approval. Costs may apply.
  3. A hypothesis
  4. Case data (photos and other relevant clinical information)
  5. An understanding of the research regulations at your institution

Please send an email to research@fdna.com with basic information about your study, the number of photos/ cases you estimate and the source of funding. Allow 5 days for process, and the research committee will contact you with a proposal. Once the proposal is signed, you will be able to commence your research.

Research with Face2Gene is governed by the research terms & conditions.

  1. Send information about your study to research@fdna.com and get the approval from FDNA’s research committee. Costs may apply.
  2. Obtain the photos and clinical information for your study cohorts.
  3. Upload each case with a photo and any relevant data into the CLINIC app (phenotype information, age, sex, race/ethnicity, etc.).
  4. Open the RESEARCH app and click the button to create “New Project” and give your project a name.
  5. In the “Cohorts” section, create and label any relevant cohorts. Select from your own Face2Gene cases to create each cohort.
  6. Click the “Run Experiment,” button, and wait several minutes for the app to analyze the data.

The Face2Gene RESEARCH app is available to any user approved by FDNA’s research committee. We ask that you mention in the methodology of your presentations or publications that the results were obtained using the Face2Gene RESEARCH application (FDNA Inc., USA)

The only photo that is analyzed is the most recently added frontal photo.

Yes, the Face2Gene team is happy to help you and your collaborator combine cases (in a de-identified manner) in order to perform collaborative research. This may allow you and your collaborators to combine your study cases or it may enable you to access appropriate control cases from your colleagues. Contact research@fdna.com for help with this.

Users of the RESEARCH app should anticipate and adjust for potential confounders by including age-, sex-, and ethnicity-matched control cohorts in their analysis.

Here are examples of publications that have studied this from different perspectives:

Yes! We are happy to help by providing example IRB language that can be used in your IRB submission. Please contact us at research@fdna.com.

You should determine the specific research consent requirements at your institution before performing your research project.

The Face2Gene RESEARCH app is designed to allow users to use FDNA’s unique facial analysis technology to compare patient cohorts. The results of the analysis include:

  • Binary comparisons
  • Multi-class comparison
  • Distribution of annotated clinical features
  • Composite images of cohorts

Control groups are often needed. You may wish to compare your study cohort(s) to unaffected individuals or individuals affected with various other genetic syndromes. Control cohorts should be matched to your study cohort(s) for ethnic, age, and sex breakdown to prevent confounding factors.

Yes, you can upload cases for your own control cohort the same way you would upload cases for your research cohort. You can then select these cases in the RESEARCH app and assign them to your control cohort.

If you are interested in a control cohort of unaffected subjects, FDNA might be able to provide these for your use. Please contact us at research@fdna.com regarding the sex, ethnic, and age distribution of your research cohort.

You may work with a colleague to access cases, which can be shared in a de-identified manner via the RESEARCH app.

To share data with a colleague for a research project, every investigator contributing data will need to create a separate project in Face2Gene RESEARCH and upload their cohorts. Once this is done, please inform us at research@fdna.com . We will connect these data sources together in a de-identified way to comply with HIPAA and GDPR requirements.

If you would like to test which syndromes are possible confounders prior to selecting your control cohorts and running your experiment, FDNA can provide you with a list of top-ranking syndromes from within the syndrome matches appearing in Face2Gene CLINIC for your test cohort.

Yes, you have full authorship rights. Research collaborations with Face2Gene are governed by the Research Terms & Conditions. We ask that you mention in the methodology of your publication or presentation that the results were obtained using the Face2Gene RESEARCH application (FDNA Inc., Boston, MA, USA.).

Yes, there are several such publications. Please click here to view an updated list.

Yes, you can capture screenshots of the graphs, tables, and figures from your analysis for use in presentations, posters, or publications.

Yes, we are sometimes able to help provide other useful graphics. If you are seeking other graphics, please contact us at research@fdna.com.

Yes! We are happy to help with manuscript review. Please contact us at research@fdna.com.

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