GestaltMatcher

gestaltmatcher.org

GestaltMatcher is a research tool that uses artificial intelligence (AI) to study medical photographs. It looks for facial features that can be linked to specific rare genetic conditions, which may help doctors reach a diagnosis sooner.

• How to Enroll

  Email Dr. Annabelle Arlt (annaarlt@uni-bonn.de) or Dr. Peter Krawitz (pkrawitz@uni-bonn.de) at the University of Bonn. The research team will explain how to send the clinical information and photographs they need.

• Overview

  The GestaltMatcher Database is a collection of carefully reviewed case reports of people with rare conditions. Each entry includes medical photographs, a description of the person's features using standard medical terms, and their genetic diagnosis where known. The software compares these to help researchers and doctors recognize patterns that point to particular conditions.

  For ReNU2, families who take part help researchers describe the features linked to the condition. Over time, this may help the tool recognize ReNU2 in people who have not yet been diagnosed.

• Location

  Families can take part from anywhere, with no travel needed. GestaltMatcher runs on secure servers in Germany. The database is maintained by a German nonprofit, the Arbeitsgemeinschaft für Gen-Diagnostik e.V. (AGD).

• Why Participate

  By taking part, families may help researchers:

  • Describe the facial features and wider traits linked to ReNU2

  • Train and improve AI tools that recognize rare genetic conditions

  • Help doctors tell ReNU2 apart from conditions that look similar

  • Interpret genetic test results more accurately, alongside clinical information

  • Help other undiagnosed people reach a diagnosis more quickly

  For a condition as newly described as ReNU2, each participant adds a lot. Including people of different ages, backgrounds and variants helps show the full range of how ReNU2 can look.

• Who Can Participate

  People with a confirmed ReNU2 diagnosis (dominant or recessive). Taking part means sharing medical photographs and related clinical information with the research team.

• Contact Information

  • Dr. Annabelle Arlt: annaarlt@uni-bonn.de

  • Dr. Peter Krawitz: pkrawitz@uni-bonn.de