Professor Anna Lindstrand is a specialist in Clinical Genetics, Director of the Clinical Genetics diagnostic laboratory at Karolinska University Hospital, and Group Leader of the Rare Diseases research group at Karolinska Institutet and SciLifeLab. She is a key leader in Genomic Medicine Sweden (GMS) Rare Diseases and the Genomic Medicine Center Karolinska Rare Diseases (GMCK-RD). Her research advances rare disease diagnostics, focusing on structural variation and computational methods for comprehensive variant discovery, including de novo assemblies and graph genomes. She leads two national long-read genome sequencing initiatives, one in rare disease diagnostics and one population-based, creating national infrastructure to fast-track long-read sequencing in healthcare.