Screening for Alagille Syndrome by facial image analysis with artificial intelligence

Facilitate the early diagnosis of Alagille syndrome by facial image analysis

Why?

Alagille syndrome is a rare genetic disorder that can affect multiple organs, including the liver, heart, and kidneys. It is caused by mutations in the JAG1 or NOTCH2 genes. The syndrome is characterized by a distinctive facial appearance, which can be subtle and difficult to recognize. However, Early diagnosis is important for timely medical intervention and management of the disease. In general, the treatment outcomes are better when the disease is diagnosed early. Therefore, this project aims to improve the diagnosis of Alagille syndrome by using artificial intelligence to analyze facial images.

How?

Many patients with Alagille syndrome have distinctive facial dysmorphic features, and artificial intelligence (AI), such as GestaltMatcher (Hsieh et al. Nature Genetics, 2022), has proven the ability to recognize the rare disorder by facial image analysis. Over the last few years, we published GestaltMatcher to recognize 1,115 rare disorders and GestaltMatcher-Arc (Hustinx et al. WACV, 2023) to further improve the performance by 100%, considered state-of-the-art. Moreover, we built GestaltMatcher Database (GMDB) consisting of more than 10,000 facial images with 792 disorders that can be used for model training.

This project will be built upon our GestaltMatcher approach and database. We first collect facial photos of Alagille Syndrome patients to train the AI tool to help physicians diagnose accurately and efficiently.

How to participate in this project?

If you're interested in this project and want to contribute to it, please feel free to contact us or schedule up a meeting with us.

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