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 Science for Life Laboratory. She is active in Genomic Medicine Sweden (GMS) as co-chair of GMS Rare Diseases and a member of the GMS management group. She is also one of the initiators and key drivers of the Genomic Medicine Center Karolinska Rare Diseases (GMCK-RD), contributing to the implementation of genomic medicine within clinical healthcare for more than 30,000 individuals. Anna’s research focuses on rare genetic diseases, combining clinical and molecular approaches to improve genetic diagnostics, refine genotype–phenotype correlations, and advance understanding of disease biology. A central interest is structural genomic variation, how it forms and how it causes human disease. Her group characterizes chromosomal rearrangements using a range of short and long-read sequenicng methodologies, with functional follow-up in induced pluripotent stem cells. More recently, she has spearheaded efforts to introduce long-read genome sequencing and transcriptome analysis in clinical diagnostics to improve diagnostic yield. She is also driving computational development toward more comprehensive variant discovery, including improved calling across variant classes as well as approaches based on de novo assemblies and graph genomes.