Dansk Selskab for Medicinsk Genetik, Kolding, Denmark

I had the opportunity to attend the DSMG Seminar, which began with an exceptionally engaging presentation by Prof. Martin Jakob Larsen — setting the stage for a truly inspiring event. Prof. Larsen discussed the pivotal role of nanopore sequencing in identifying the genetic causes of rare diseases and imprinting disorders, showcasing how this technology is reshaping clinical genomics. He shared several compelling case studies, including: A complex chromosomal translocation involving the SMAD4 gene, resulting in both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.A distinctive Silver-Russell-like phenotype, traced to imprinting abnormalities in the IGF2 gene. It’s remarkable to see how Oxford Nanopore Technologies’ long-read sequencing continues to push the boundaries of diagnosis and discovery for conditions once difficult to resolve using conventional methods.