Review of the 39th EFI Conference in Edinburgh – From Genes to Grafts: Where Innovation meets Medicine

In addition to an engaging exchange with partners at our booth, DKMS Life Science Lab contributed to the scientific program with several posters highlighting key advances in HLA research. These included the full-length characterization of more than 120 novel HLA-DRB3/4/5 alleles [view here], the development of a genome sequencing–based approach for determining sex-linked markers in donor registries [view here], and work showcasing the potential of cryopreserved adult donor stem cell units (ADCUs) as an additional allogeneic cell source [view here].

A particular highlight was the selection of our abstract for the best abstract session, a recognition of the quality and relevance of our research. Our colleague Stefanie Tietze presented "Rare but Recurring: Defining the Landscape of HLA Copy Number Variation Through Large-Scale NGS Genotyping", demonstrating how the unique scale of the DKMS donor registry enables us to detect and characterize rare structural variants that would remain invisible in smaller datasets. By screening 1,700,000 donors through high-resolution NGS-based HLA typing, we identified 27 cases of HLA copy number variation, corresponding to a prevalence of approximately 1 in 63,000, providing the first large-scale population estimate for this phenomenon. Our findings reveal that while HLA CNVs are rare, they are not isolated incidents and arise on diverse haplotype backgrounds without a unifying recurrent pattern, with important implications for HLA typing accuracy and donor-recipient matching.

We look forward to seeing the impact of these findings in the field and to continuing this work at future EFI conferences.