From June 17 to 18, 2023, Professor Aimé Lumaka, Director of the Reference Center for Rare and Undiagnosed Diseases (CRMRND) at the University of Kinshasa, actively participated in the first Hackathon for Undiagnosed Diseases. This hackathon took place at Karolinska University Hospital (Stockholm, Sweden) and was co-organized by the Wilhelm Foundation, Phenotips, and the UDP program of Karolinska University Hospital.
The event focused on approximately 14 patients who, despite the best efforts of their physicians and genetic specialists, remained undiagnosed. The patients were nominated by members of the Undiagnosed Diseases Network International (UDN-I) and came from several countries, including the Democratic Republic of Congo, the USA, India, Sweden, Turkey, and Pakistan.

Genome sequencing can provide answers for many families, but approximately 60% of % patients remain undiagnosed. The first Undiagnosed Disease Hackathon brought together approximately 100 global experts in genetics and bioinformatics to address complex unsolved cases in new ways while raising awareness of undiagnosed diseases.

Prior to the event, patients received a comprehensive clinical evaluation and genome and transcriptome sequencing.

The patient from Congo was the first to be diagnosed. This is the first confirmed case of Costello syndrome in sub-Saharan Africa.
The CRMRND is developing a multidisciplinary care plan at the University Clinics of Kinshasa for this young patient and her family. Congratulations to the entire CRMRND team at UNIKIN.