Rate My Professor Anna Lindstrand

Anna Lindstrand is Adjunct Professor of Clinical Genetics in the Department of Molecular Medicine and Surgery at Karolinska Institutet, where she also serves as group leader for the Rare Diseases research group alongside Ann Nordgren. She earned her University Medical Degree from Karolinska Institutet in 1999, a PhD from the Department of Molecular Medicine and Surgery in 2010, and attained Docent status at Karolinska Institutet in 2016. Her clinical career at Karolinska University Hospital began with residency in Clinical Genetics and Genomics from 2002 to 2012, followed by roles as specialist physician from 2012 to 2019, Director of the Clinical Genetics Laboratory since 2018, and Consultant in Clinical Genetics and Genomics since 2019. She completed a postdoctoral position at Duke University from 2010 to 2012, focusing on ciliopathies, copy number variant screening, and zebrafish modeling. Lindstrand has received numerous awards, including the Jeanssons Foundation personal award for outstanding young researchers in 2015, a three-year fellowship from Riksbankens Jubileumsfond (2015-2017), funding from Svenska Sällskapet för Medicinsk Forskning (2015-2018), support from Marianne och Marcus Wallenbergs Stiftelse for clinical scientists (2015-2017), and four-year funding as Research Associate at Karolinska Institutet (2016-2019).

Her research centers on structural human genomic variation, including inversions, translocations, deletions, and duplications, and its biological consequences in rare diseases, neurodevelopmental disorders, malformation syndromes, and cancer. Utilizing next-generation sequencing, whole genome sequencing, and functional studies in primary cells, iPS cells, and zebrafish models, her work bridges clinical diagnostics and research, contributing to the national Undiagnosed Diseases Program and international networks. Key publications include 'The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation' (2026, Genome Medicine), 'Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy' (2026, Nature Genetics), 'Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing' (2026, Genome Research), 'Complex genomic rearrangements: an underestimated cause of rare disease' (2022, Trends in Genetics), and 'Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH' (2010, Clinical Genetics). With over 6,400 citations, her contributions advance precision diagnostics for rare diseases.