Ongoing Projects

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Bone2Gene

Bone2Gene AI aims to identify the unique imaging patterns linked to various bone disorders and support clinicians in the... Read more

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Photorealistic Synthetic Portraits

Here we show photorealistic synthetic portraits of certain rare diseases based on the cohort ... Read more

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Face2HPO

Making Diagnoses Visible: Joint inference of disorders and facial features by AI. Read more

GMDB aims to improve the openness and accessibility of scientific findings and to enhance collaboration amongst researchers and clinicians. On this page, you can find all 21 active research projects approved since 2022 until today.


AI-Based Support for Early Diagnosis of Rare Genetic Disorders Using Facial Images

Oct. 2nd 2025

Principal Investigator: Mr. Akshit Chikara

Institution: National Institue Of Technology, Rourkela, India

We are conducting non-commercial academic research at the Department of Computer Science & Engineering, National Institute of Technology Rourkela, an Institute of National Importance in India. Our project develops and evaluates machine learning approaches to analyze facial images of rare genetic disorders to improve early diagnosis and support clinicians. We will also study explainability...

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