GestaltMatcher is a continuously updated collection of medical images of individuals with rare diseases and

open-source Open source is source code that is made freely available for possible modification and redistribution. Products include permission to use and view the source code, design documents, or content of the product. The open source model is a decentrali ...

AIs for the interpretation of such data. As of March 2023, GestaltMatcher DataBase (GMDB) contained approximately 10,000 case reports with a molecular diagnosis and clinical features annotated with HPO terminology. Medical images include, for example, facial photographs of patients with genetic syndromes manifesting with facial dysmorphic features, as well as radiographs from those with

skeletal dysplasias An osteochondrodysplasia,Etymology: . or skeletal dysplasia, is a disorder of the development of bone and cartilage. Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if t ...

. GestaltMatcher allows users to find and publish case reports, including medical images, if that option is chosen in the dynamic consent module. By that means, GMDB complements

medRxiv medRxiv (pronounced "med-archive") is an online disciplinary repository publishing preprints in all disciplines of the health sciences. It distributes papers in the areas of medicine and clinical research without charge to the reader. In Janua ...

and can also be used as a repository for re-identifiable images in preprints. In a prospective three year multi center study, GestaltMatcher showed clinical utility as an artificial expert opinion in a multidisciplinary team.

History

The GestaltMatcher project started in April 2021 during the revision of the manuscript from Hsieh, ''et al.''{{Cite journal , last1=Hsieh , first1=Tzung-Chien , last2=Bar-Haim , first2=Aviram , last3=Moosa , first3=Shahida , last4=Ehmke , first4=Nadja , last5=Gripp , first5=Karen W. , last6=Pantel , first6=Jean Tori , last7=Danyel , first7=Magdalena , last8=Mensah , first8=Martin Atta , last9=Horn , first9=Denise , last10=Rosnev , first10=Stanislav , last11=Fleischer , first11=Nicole , last12=Bonini , first12=Guilherme , last13=Hustinx , first13=Alexander , last14=Schmid , first14=Alexander , last15=Knaus , first15=Alexej , date=March 2022 , title=GestaltMatcher facilitates rare disease matching using facial phenotype descriptors , journal=Nature Genetics , language=en , volume=54 , issue=3 , pages=349–357 , doi=10.1038/s41588-021-01010-x , issn=1061-4036 , pmc=9272356 , pmid=35145301 with funding from

University of Bonn The University of Bonn, officially the Rhenish Friedrich Wilhelm University of Bonn (), is a public research university in Bonn, North Rhine-Westphalia, Germany. It was founded in its present form as the () on 18 October 1818 by Frederick Willi ...

and the

German Research Foundation The German Research Foundation ( ; DFG ) is a German research funding organization, which functions as a self-governing institution for the promotion of science and research in the Federal Republic of Germany. In 2019, the DFG had a funding bud ...

(DFG). The reviewers and editors of

Nature Genetics ''Nature Genetics'' is a peer-reviewed scientific journal published by Nature Portfolio. It was established in 1992. It covers research in genetics. The chief editor is Tiago Faial. The journal encompasses genetic and functional genomic studies ...

asked for

FAIR A fair (archaic: faire or fayre) is a gathering of people for a variety of entertainment or commercial activities. Fairs are typically temporary with scheduled times lasting from an afternoon to several weeks. Fairs showcase a wide range of go ...

data in order to reproduce the algorithmic results described in that work. Since then, the database (GMDB) has grown by contributions from its community. Since January 2022, GMDB can be used as repository for medical imaging data for preprints submitted to

. In February 2023, at the 14th ICHG meeting in

Cape Town Cape Town is the legislature, legislative capital city, capital of South Africa. It is the country's oldest city and the seat of the Parliament of South Africa. Cape Town is the country's List of municipalities in South Africa, second-largest ...

, Prof. Shahida Moosa (Stellenbosch University) reported the 10,000 case, which is a patient from

South Africa South Africa, officially the Republic of South Africa (RSA), is the Southern Africa, southernmost country in Africa. Its Provinces of South Africa, nine provinces are bounded to the south by of coastline that stretches along the Atlantic O ...

with Mabry syndrome. Prof. Peter Krawitz also announced at the conference that AGD e.V., a German non-profit organization, will oversee the GMDB from this point forward. In January 2024 the GestaltMatcher project received a donation from th
Eva Luise und Horst Köhler Stiftung
which is a charity of the former German president

Horst Köhler Horst Köhler (; 22 February 1943 – 1 February 2025) was a German politician who served as President of Germany from 2004 to 2010. As the candidate of the two Christian Democratic sister parties, the Christian Democratic Union of Germany, CDU ...

and his wife,

Eva Köhler Eva Luise Köhler (; Bohnet; born 2 January 1947) is the widow of former German president Horst Köhler and as such, was sometimes referred to by the media as the " First Lady" during her husband's presidency. Education and career She complete ...

, to improve the medica care for people with rare diseases.

References

External links

GestaltMatcher

GMDB

AGD e.V., operator of the service
Diagnosis codes Medical search engines Medical databases