The importance of assigning a diagnosis to your cases
Face2Gene is an AI-driven tool that uses a set of proprietary algorithms engineered to learn from diagnosed patient photos to…
FDNA collaborated with the American Brain Foundation, sponsored by Fabric Genomics, to promote awareness of Lissencephalies and other brain malformations throughout the month of August as part of FDNA’s Year Of Discovery.
Baraitser-Winter Syndrome is an incredibly rare disease with less than 50 cases reported in medical literature. The development of several areas of the body is impaired in individuals affected by this genetic disease. Some of the more substantial characteristics of this condition are facial malformations as well as abnormalities in the growth and structure of the brain. Some features of this syndrome include:
Below is a brief video of Baraitser-Winter Syndrome highlighting a few of the key features.
Information on this syndrome is staggeringly limited, though much can be found in summaries or fact sheets written by foundations or advocacy groups. Although the number of published resources is relatively small, a handful of medical articles and research can be located on PubMed for a brief overview of the syndrome.
The engagement and contributions of clinicians and researchers have enabled Face2Gene to learn valuable information on the clinical presentation of many rare diseases such as Baraitser-Winter syndrome. For example, thanks to the collection of many facial images of patients diagnosed with this syndrome, we have been able to create and validate a model for the facial patterns that are common among these individuals.
Due to the contributions from the Face2Gene community, the volume of de-identified data (photos, phenotypes, and other patient information) uploaded to Face2Gene enabled the successful facial recognition and identification of many rare genetic conditions, including the following selection of Lissencephalies and brain malformations.
The above, along with myriad other syndromes, are available for patient evaluations via Face2Gene CLINIC.
Face2Gene is an AI-driven tool that uses a set of proprietary algorithms engineered to learn from diagnosed patient photos to…
Face2Gene is a suit of technologies that aims to help clinicians to fasten the time of diagnosis of rare and…
Face2Gene es una plataforma digital con varias tecnologías que tiene como objetivo ayudar a los médicos a acortar el tiempo…