Facial recognition software is quickly changing the speed at which patients with rare genetic conditions can be diagnosed. But the only way that software can function is if it has images – lots of images.
And those images are where advocacy groups can be of great value.
For example, the most recent rare disease to be included in the Face2Gene software is Mucopolysaccharidosis IIIB (MPSIIIB), also referred to as Sanfilippo syndrome type B. And the software can recognize those children long before symptoms appear thanks to 2 patient advocacy groups – Cure Sanfilippo Foundation and Jonah’s Just Begun Foundation – that provided the images. In total, 614 patient photos were submitted to help Face2Gene use their algorithms to recognize specific facial features in an undiagnosed Sanfilippo syndrome type B child.
Sanfilippo syndrome type B is a devastating disease that afflicts children. Deemed the ‘pediatric Alzheimer’s’ disease, children with this rare lysosomal disease begin life normal but by the toddler years they begin to show developmental and behavior symptoms. These early symptoms are often shrugged off as the child ‘going through a stage’ or ‘being hyperactive’ but as they age, the symptoms worsen, and they also begin to have problems with cognition, aggressive behaviour, and possibly seizures.
There is currently no treatment for the condition but there is hope. In a news release, Dr. Cara O’Neill, Scientific Director of the Cure Sanfilippo Foundation said, “Among the benefits of an early diagnosis for Sanfilippo patients is the ability to apply for ongoing clinical trials, community support, and resources for symptom management, rehab therapies and palliative care.”
And there are a lot of clinical trials for this rare condition, including studies sponsored by pharmaceutical giants Shire, Alexion, and BioMarin. As such, early recognition of the disease can put children in trials long before the disease leaves them permanently diminished.
To learn more about Face2Gene, visit www.FDNA.com.