Ongoing Projects
Photorealistic Synthetic Portraits
Here we show photorealistic synthetic portraits of certain rare diseases based on the cohort ... Read more
Alagille Syndrome Project
Alagille syndrome is a rare genetic disorder that can affect multiple organs, including the liver, heart, and... Read more
Integrating GestaltMatcher Database with PubCaseFinder and BioHackathon in Japan
Jul. 12th 2024
Principal Investigator: Dr.Toyofumi Fujiwara
Institution: DBCLS
We would like to integrate the GestaltMatcher Database (GMDB) into our system, PubCaseFinder (Fujiwara et al. 2018) (https://pubcasefinder.dbcls.jp/). PubCaseFinder is a diagnostic support system for rare genetic diseases that has been in operation for eight years. It allows users to input patient symptoms using Human Phenotype Ontology (HPO) and obtain a ranked list of diseases based on...
Read moreImproving the support of next-generation phenotyping to Japanese patients
Nov. 9th 2023
Principal Investigator: Dr.Hiroyuki Mishima
Institution: Department of Human Genetics, Nagasaki University
The next-generation phenotyping technology, such as GestaltMatcher, has demonstrated the capability of diagnosing patients with rare disorders by analyzing patients' facial images. However, the majority of the training set in the GestaltMatcher Database is predominantly Caucasian. This ethnic bias in the training set may reduce performance when analyzing Asian patients. Therefore, this proposal...
Read moreFederated GestaltMatcher
Oct. 2nd 2023
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...
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