Why should I upload a case to GMDB? What are the benefits?

Uploading a case to GestaltMatcher Database (GMDB) contributes to rare disease diagnosis, research, and the development of clinically relevant AI tools. There are several reasons to consider adding your cases:

Support the rare disease and clinical genetics community:
By uploading a case, especially one with a confirmed diagnosis, you help expand the knowledge base available to other clinicians. If someone is analyzing a similar-looking patient or browsing the database, your case might offer a helpful point of comparison, potentially guiding differential diagnosis or encouraging professional exchange.
Help improve AI-assisted diagnostics:
Confirmed cases are used to train and improve GestaltMatcher AI. Contributing data helps the algorithm to recognize diverse facial phenotypes, especially in rare and ultra-rare syndromes and underrepresented populations. Since the GestaltMatcher algorithm compares individuals rather than only known syndromes, even a single case can make a meaningful difference.
Enable the discovery of ultra-rare and undiagnosed conditions:
You can also upload patients without a diagnosis. These cases are not used for the training of the AI but may contribute to identifying clusters of similar patients, facilitating gene discovery and early characterization of novel conditions.
Become the author of a micro-publication:
Clinicians who upload well-documented cases can request a micro-publication, which is a citable, DOI-linked case report. This offers a way to share case reports within an access-controlled environment. Unlike journal articles, micro-publications remain within GMDB and can be deleted if consent is revoked.

All cases in GMDB are only accessible to verified clinicians and researchers. The visibility of the case depends on the type of consent obtained, meaning whether the case is marked as private or FAIR (Findable, Accessible, Interoperable, Reusable).