Ongoing Projects

Bone2Gene_logo
Bone2Gene

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

Card image cap
Photorealistic Synthetic Portraits

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

Card image cap
Alagille Syndrome Project

Alagille syndrome is a rare genetic disorder that can affect multiple organs, including the liver, heart, and... 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 10 active research projects approved since 2022 until today.


Federated GestaltMatcher

-

Principal Investigator: Dr. Mete Akgün

Institution: University of Tübingen

The primary focus is developing privacy-preserving machine learning techniques for handling medical data. One of our key areas of interest is rare disease analysis, which requires access to a substantial number of genomes for successful research. However, obtaining access to numerous genomes presents significant privacy challenges, particularly in compliance with regulations like GDPR. We...

Read more

Investigating Facial Anthropometric Patterns in Rare Disorders

-

Principal Investigator: Prof. Ariane Machado-Lima

Institution: University of Sao Paulo

My research team aims to investigate facial anthropometric patterns in some disorders to assist in diagnosis. While our primary interest is in Autism Spectrum Disorder, we are also interested in exploring other syndromes to evaluate our models. We would greatly appreciate the opportunity to analyse GMDB data.

Read more

AI based diagnosis of Genetic Syndromes using Facial Gestalt Analysis

-

Principal Investigator: Prof. Sowmya Kamath

Institution: National Institute of Technology Karnataka, Surathkal, India

We are currently working on developing advanced AI models for the diagnosis of Genetic Syndromes (GS) through facial gestalt analysis. Facial gestalt, which focuses on recognizing specific dysmorphic features in the face, is a valuable diagnostic tool for identifying various GS. However, current methodologies that rely on geometric data, facial landmarks, and handcrafted features are limited by...

Read more