Give a Face to a Syndrome

We, the Bohring-Opitz Syndrome Support Group, are supporting the FDNA (Facial Dysmorphology Novel Analysis) project ‘Face2Gene’.

Bohring-Opitz Syndrome (BOS), which has with less than 60 children recognized in medical history, is a very rare genetic disorder and knowledge of BOS is still in its early stages. By supporting the groundbreaking Face2Gene project we want to be at the forefront of medical technology and help ensure early and accurate diagnosis.

Many genetic syndromes are associated with the patient’s appearance or gradual development of distinctive physical characteristics.  We as parents, along with scientists, agree that children with BOS greatly resemble each other with their distinctive facial features. These characteristics make Bohring-Opitz Syndrome ideal to include in the Face2Gene project.

Face2Gene, when used in conjunction with a clinical diagnosis, could be a useful addition to molecular studies, such as whole exome sequencing and could be an important contribution to the further phenotypic delineation of Bohring-Opitz Syndrome.

WHAT IS the purpose of FACE2GENE?

Image caption: FDNA’s technology automatically extracts de-identified binary information from the photographs uploaded to perform the analysis. (Image courtesy of FDNA)

Face2Gene is a genetic search and reference tool powered by FDNA® (Facial Dysmorphology Novel Analysis) technology.

FDNA has developed a technology that analyses facial photos to identify facial morphology associated with rare diseases. This technology converts facial photos into a de-identified mathematical algorithm that describes the characteristics of each facial feature. The software using the FDNA technology is called Face2Gene and is a free tool used by hundreds of geneticists worldwide. FDNA is collecting data from images of patients with confirmed diagnosis of many different genetic diseases to improve this technology further. The aim is to be able to distinguish patients with Bohring-Opitz Syndrome (BOS) from normal patients and from patients with other non-BOS syndromes.  To be able to do this FDNA, needs to collect data from as many facial images as possible from children with BOS at different ages for the Face2Gene project.

As more data is collected, the technology learns and becomes more accurate for the benefit of the entire genetic expert community and their patients.

What Do I Have To Do To Help?

You are invited to upload facial photos of patients with confirmed diagnosis of Bohring-Opitz Syndrome to this secure and private portal dedicated to help training the technology. Serial photos of the same patient at different ages are particularly useful for showing changes over time, so you are encouraged to provide current and past photos. For each photo, please write the estimated age at the time the photo was taken, gender and ethnicity as well as the exact confirmed diagnosis (name of syndrome, specific test results, if available).

What Are The Possible Benefits From Helping This Project?

The results of this project may improve the scientific understanding of the facial characteristics of multiple cranio-facial syndromes and how these change over time. Results may assist in developing better tools for early diagnostics of multiple genetic syndromes and promote research for drug discovery and effectiveness.

If I Take Part In This Project, How Will My Privacy Be Protected?

No identifying information about patients will be retained by FDNA in this project. All facial photos are converted into de-identified mathematical information. The only information linked is about the syndrome, ethnicity, sex and age of the patient in the respective photo. FDNA applies the highest standards of security (HIPAA) to this online portal to ensure the most stringent privacy compliance.

Get started

Face2Gene has created a portal through which families can upload photos if they want to help Face2Gene recognize BOS better and earlier. In addition FDNA will schedule webinars to explain Face2Gene and to answer questions. If you want to participate in this project or if you require help uploading to the secure portal, please contact us at sheri@bohring-opitz.org to get the access code and further information regarding a webinar.







Please also feel free to visit the websites of FDNA and Face2Gene project for more information.

Thank you to all those who have already contributed to this important project.


(Source: http://epostersonline.com/acmg2017/node/2598 Date March 17th 2018)