Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

Cure Sanfilippo Foundation is collaborating with Face2Gene, a suite of digital resources for physicians from FDNA, to populate its Clinic app that uses facial recognition technology to assist in accurately and timely diagnoses of Sanfilippo Syndrome.

One way to determine if different genetic syndromes have distinctly recognizable facial features is by using sophisticated facial recognition software. This distinction could, in time, lead to an earlier diagnosis by medical professionals.

Cure Sanfilippo asked the network of Sanfilippo families that elect to operate under its umbrella to provide facial photos of their children to help create a definition of the facial features for Sanfilippo Syndrome (MPS III) and study the facial features over different ages, genders and ethnicities.

Once sufficient numbers of photos have been submitted, FDNA will run an analysis on the different groups of photos to determine whether there are distinct gestalts and how these gestalts change over time.

Updates

2019

• February – In 2019, the Face2Gene project was selected for a platform presentation at WORLDSymposium 2019.

2018

• August – An August 30 article in The Boston Globe featured clinical geneticist Dr. Olaf Bodamer at Boston Children’s Hospital using the Face2Gene software to help diagnose a patient with features of a rare genetic disorder. Read the full article (subscription required): https://www.bostonglobe.com/business/2018/08/30/facial/8I6mem2eDyImGN1AntxB3K/story.html
• April – Cure Sanfilippo Foundation participated in a meeting with folks at GGC Greenwood Genetic Center and FDNA about a pilot project to improve access to genetic care and testing within general pediatric offices using the Face2Gene tool.
• April – Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, attended the 2018 American College of Medical Genetics and Genomics (ACMG) Conference and presented a poster on Face2Gene.

• February – In 2018, the information uploaded to Face2Gene was used to create a Natural History of Facial Features Observed in Sanfilippo Syndrome, Type B. The following poster presentations were displayed at the WORLDSymposium 2018. Click either of the posters to see a full-screen version. 

• January – Cure Sanfilippo Foundation Scientific Director Cara Parsons O’Neill, MD, spoke at the SC Catch Meeting in Charleston, SC, to spread awareness about Sanfilippo Syndrome and the pilot project collaboration with Face2Gene & Greenwood Genetic Center, to incorporate facial imaging into primary care pediatrics to improve access to genetic care, and hopefully an earlier diagnosis.

2017

• January – Cure Sanfilippo Foundation Scientific Director, Dr. Cara O’Neill, was invited to speak in a panel discussion at the 2017 American Society of Human Genetics (ASHG) Conference about the collaboration project with Face2Gene.