Anna Lindstrand
Om mig
Jag arbetar som kliniskt aktiv forskare på KI/KS och leder en forskargrupp som arbetar med translationell forskning i frontlinjen med fokus på underliggande cellulära mekanismer hos de patienter med sällsynta genetiska sjukdomar jag träffar i mitt arbete som specialistläkare i klinisk genetik. Mitt huvudområde är studier av strukturella varianter, hur de uppstår och hur de orsakara sällsynta sjukdomar och blodcancer. Med ny genteknik som exom- och helgenom- sekvensering kan vi snabbt kartlägga genetiken hos patienterna och identifiera misstänkta sjukdomsgener. För att stärka kopplingen mellan genetisk förändring och kliniska symtom utförs sedan funktionella studier i patientprov, cellinjer samt i inducerade stamceller. Våra fynd förs sedan tillbaka till vården i form av ny information om geners funktion och som genetisk rådgivning till den specifika familjen.
Forskargruppsledare för gruppen Sällsynta diagnoser, Institutionen för molekylär medicin och kirurgi
Forskningsbeskrivning
Se den engelska sidan för mer information
Artiklar
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2025;112(8):1769-1777
- Article: CLINICAL GENETICS. 2025;108(2):199-205
- Article: FRONTIERS IN GENETICS. 2025;16:1580879
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;:1-10
- Article: ACTA OPHTHALMOLOGICA. 2025;103(3):327-338
- Article: EPILEPSIA. 2025;66(8):2966-2979
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2025;197(3):e63935
- Article: NEUROLOGY-GENETICS. 2025;11(1):e200238
- Article: SCIENTIFIC REPORTS. 2025;15(1):2912
- Journal article: GENETICS IN MEDICINE OPEN. 2025;3:102295
- Journal article: METHODS IN MOLECULAR BIOLOGY. 2025;2968:151-159
- Article: GENOME MEDICINE. 2024;16(1):146
- Article: SCIENTIFIC REPORTS. 2024;14(1):30343
- Article: GENOME RESEARCH. 2024;34(11):1774-1784
- Article: GENOME RESEARCH. 2024;34(11):1785-1797
- Article: GENOME RESEARCH. 2024;34(11):1763-1773
- Article: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2024;103(8):1564-1569
- Article: CELL GENOMICS. 2024;4(7):100590
- Article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2024;63(5):658-663
- Article: SCIENTIFIC REPORTS. 2024;14(1):9000
- Article: OPHTHALMIC GENETICS. 2024;45(1):95-102
- Journal article: GENETICS IN MEDICINE OPEN. 2024;2:101863
- Article: GENETICS IN MEDICINE OPEN. 2024;2:101863
- Journal article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2023;62:159
- Article: BMC OPHTHALMOLOGY. 2023;23(1):394
- Article: PLOS ONE. 2023;18(7):e0289346
- Article: FRONTIERS IN NEUROSCIENCE. 2023;17:1205653
- Article: JOURNAL OF INTERNAL MEDICINE. 2023;294(1):96-109
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2023;191(7):1929-1934
- Article: FRONTIERS IN GENETICS. 2023;14:1174046
- Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005
- Article: SCIENTIFIC REPORTS. 2023;13(1):6904
- Journal article: PATHOLOGY. 2023;55:s17
- Journal article: PATHOLOGY. 2023;55:s19-s20
- Article: BIOMEDICINES. 2022;10(12):3171
- Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
- Article: HUMAN MUTATION. 2022;43(11):1567-1575
- Article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):487-493
- Article: BLOOD ADVANCES. 2022;6(17):5009-5023
- Article: SEMINARS IN CANCER BIOLOGY. 2022;84:242-254
- Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022;23(16):9392
- Article: HUMAN MUTATION. 2022;43(6):708-716
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
- Article: FRONTIERS IN GENETICS. 2022;13:839349
- Article: FRONTIERS IN GENETICS. 2022;12:803683
- Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022;65(1):104402
- Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2021;297(6):101355
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2021;185(12):3593-3600
- Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1359-1368
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1337-1347
- Article: FRONTIERS IN GENETICS. 2021;12:708348
- Article: GENETICS IN MEDICINE. 2021;23(5):888-899
- Article: HUMAN GENETICS. 2021;140(5):775-790
- Article: GENOME MEDICINE. 2021;13(1):63
- Article: GENOME MEDICINE. 2021;13(1):40
- Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(5):692-706
- Article: HUMAN MUTATION. 2020;41(11):1979-1998
- Article: NATURE COMMUNICATIONS. 2020;11(1):4932
- Article: BMC BIOINFORMATICS. 2020;21(1):273
- Article: BMC MEDICAL GENETICS. 2020;21(1):87
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020;182(5):1143-1151
- Article: PLOS ONE. 2020;15(2):e0228622
- Article: MOLECULAR BIOLOGY AND EVOLUTION. 2020;37(1):18-30
- Article: CLINICAL GENETICS. 2019;96(6):560-565
- Article: FRONTIERS IN GENETICS. 2019;10:896
- Article: SCIENCE ADVANCES. 2019;5(9):eaax2166
- Article: CLINICAL GENETICS. 2019;96(2):118-125
- Article: FRONTIERS IN GENETICS. 2019;10:608
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e666
- Article: NATURE MEDICINE. 2019;25(4):583-590
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):530-541
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549
- Article: BIOLOGICAL PSYCHIATRY. 2019;85(4):287-297
- Article: PLOS GENETICS. 2019;15(2):e1007858
- Article: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2018;812:1-4
- Article: PLOS GENETICS. 2018;14(11):e1007780
- Article: HUMAN MUTATION. 2018;39(10):1456-1467
- Article: HUMAN MUTATION. 2018;39(9):1161-1172
- Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:380
- Article: HUMAN MUTATION. 2018;39(7):939-946
- Article: HUMAN MUTATION. 2018;39(4):495-505
- Article: PLOS ONE. 2018;13(3):e0189710
- Article: PLOS ONE. 2018;13(3):e0193928
- Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(12):2394-2404
- Article: SCIENTIFIC REPORTS. 2017;7(1):15585
- Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(8):3029-3039
- Article: NATURE NEUROSCIENCE. 2017;20(8):1043-1051
- Journal article: F1000 PRIME REPORTS. 2017;6:664
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(5):1396-1399
- Article: NATURE GENETICS. 2017;49(4):515-526
- Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(4):776-783
- Article: HUMAN GENETICS. 2017;136(2):179-192
- Article: F1000RESEARCH. 2017;6:664
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(5):1005-1014
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(2):318-336
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(2):198-207
- Article: HUMAN MOLECULAR GENETICS. 2015;24(18):5069-5078
- Article: PLOS ONE. 2015;10(7):e0131883
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(3):507-513
- Article: JOURNAL OF MEDICAL GENETICS. 2015;52(2):111-122
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;94(5):745-754
- Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;93(2):357-367
- Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528
- Article: CELL. 2012;150(3):533-548
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012;158A(5):1111-1117
- Article: CLINICAL GENETICS. 2010;77(6):552-562
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010;152A(5):1233-1243
- Article: JOURNAL OF MEDICAL GENETICS. 2010;47(5):299-311
- Article: CLINICAL GENETICS. 2010;77(2):145-154
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Alla övriga publikationer
- Preprint: MEDRXIV. 2025;MEDRXIV
- Editorial comment: VACCINES. 2025;13(6):649
- Letter: NATURE MEDICINE. 2025;31(6):1730-1732
- Review: NATURE GENETICS. 2025;57(6):1334-1343
- Corrigendum: SCIENTIFIC REPORTS. 2025;15(1):10121
- Conference publication: GENETICS IN MEDICINE OPEN. 2025;3:101928
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1779-1780
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1572
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1610-1611
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1645
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1154
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1310-1311
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1461-1462
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:810
- Editorial comment: NATURE GENETICS. 2024;56(11):2287-2294
- Conference publication: EPILEPSIA. 2024;65:477-478
- Preprint: BIORXIV. 2024
- Conference publication: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2024;64 Suppl 1:289-290
- Preprint: MEDRXIV. 2024;MEDRXIV
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:606
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:603-604
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:629
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:472-473
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:539
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:689
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1779-1780
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1645
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1610-1611
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1154
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1461-1462
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1310-1311
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:643
- Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):397-412
- Other: JOURNAL OF PEDIATRIC UROLOGY. 2023;19(3):335-338
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:348-349
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:646
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:48
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:632
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:469
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:590-591
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:576-577
- Published conference paper: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:429Missense variant in PDK1 associated with severe developmental delay and epilepsy
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451
- Preprint: RESEARCH SQUARE. 2023
- Conference publication: PATHOLOGY. 2023;55:s19
- Review: CAMBRIDGE PRISMS: PRECISION MEDICINE. 2023;1:e15
- Review: TRENDS IN GENETICS. 2022;38(11):1134-1146
- Other: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):586
- Conference publication: ANNALS OF NEUROLOGY. 2022;92:S171-S172
- Letter: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):585-586
- Letter: NATURE MEDICINE. 2022;28(10):1980-1982
- Other: CLINICAL CASE REPORTS. 2022;10(6):e5989
- Conference publication: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2022;63(7)
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):41-42
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):236-237
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):440
- Preprint: AUTHOREA PREPRINTS. 2021
- Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1470-1471
- Other: LAKARTIDNINGEN. 2021;118:21015
- Other: XIIITH INTERNATIONAL SYMPOSIUM ON SPERMATOLOGY. 2021;:125
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):3-4
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):331-332
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):254
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):588
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):117-118
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):605-606
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):908-909
- Other: NATURE COMMUNICATIONS. 2020;11(1):5398
- Other: LAKARTIDNINGEN. 2020;117:19238
- Conference publication: FASEB JOURNAL. 2020;34:1
- Other: LAKARTIDNINGEN. 2020;117:FU7F
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666-1667
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1533
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1143
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1272
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1766
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1137-1138
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1659
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1070
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1830
- Conference publication: 2019
- Conference publication: MOLECULAR CYTOGENETICS. 2019;12
- Conference publication: MOLECULAR CYTOGENETICS. 2019;12
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:123-124
- Review: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2019;20(6):E1296-1296
- Other: BASIC AND CLINICAL ANDROLOGY. 2018;28:13
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:677
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:675
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:60
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:510-511
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:211
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:590-591
- Preprint: BIORXIV. 2018
- Conference publication: BONE ABSTRACTS. 2017
- Conference publication: MOLECULAR CYTOGENETICS. 2017;10
- Letter: CLINICAL GENETICS. 2015;87(5):496-498
- Doctoral thesis: 2009
- Conference publication: CHROMOSOME RESEARCH. 2009;17:92
- Conference publication: CHROMOSOME RESEARCH. 2009;17:92-93
- Conference publication: HORMONE RESEARCH IN PAEDIATRICS. 2009;72:241
- Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2008;146A(24):3217-3222
- Conference publication: CELLULAR ONCOLOGY. 2007;29(2):148
- Conference publication: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(4):454-455
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Forskningsbidrag
- Swedish Research Council1 January 2023 - 31 December 2026
- Swedish Cancer Society1 January 2022
- Swedish Research Council1 January 2020 - 31 December 2025
- Swedish Research Council1 January 2019 - 31 December 2021
- Congenital skeletal disorders: identification of molecular mechanisms and clinical characterisation.Swedish Research Council1 January 2019 - 31 December 2021
- Swedish Research Council1 January 2018 - 31 December 2021
- Zebrafish studies to develop new treatments for drug-resistant leukemiaSwedish Cancer Society1 January 2018
- Swedish Research Council1 January 2013 - 31 December 2015
- Swedish Research Council1 September 2012 - 31 August 2013
Anställningar
- Överläkare, Klinisk genetik och genomik, Karolinska University Hospital, 2019-
- Director Clinical Genetics Laboratory, Clinical Genetics and Genomics, Karolinska University Hospital, 2018-
- Adjungerad Professor, Molekylär medicin och kirurgi, Karolinska Institutet, 2020-2028
- Specialist physician, Clinical Genetics and Genomics, Karolinska University Hospital, 2012-2019
- Resident, Clinical genetics and Genomics, Karolinska University Hospital, 2002-2012
Examina och utbildning
- Docent, Klinisk genetik, Karolinska Institutet, 2016
- Medicine Doktorsexamen, Institutionen för molekylär medicin och kirurgi, Karolinska Institutet, 2010
- Läkarexamen, Karolinska Institutet, 1999
Handledning
- Esmee ten Berk de Boer, 2023-
- Elin Stavrén Eriksson, 2023-
- Olivia Henry, 2022-
- Kristine Bilgrav Saether, 2021-
- Ida Nordgren, 2021-
- Marlene Ek, 2021-
- Hillevi Lindelöf, 2020-
- Emma Ehn, 2019-
- Emelie Ponten, 2017-
- Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases, 2022
- Jesper Eisfeldt, Characterization of structural chromosomal variants by massive parallel sequencing, 2019
- Jakob Schuy, Studies of structural chromosome rearrangments to identify genes involved in congenital brain disorders, 2023
- Maria Pettersson, STRUCTURAL GENOMIC VARIATION IN HUMAN DISEASE, https://openarchive.ki.se/articles/thesis/Structural_genomic_variation_in_human_disease/26917915?file=48962779, 2019
- Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS, 2018
- Anders Kämpe, Genetic causes and underlying disease mechanisms in early-onset osteoporosis, https://openarchive.ki.se/articles/thesis/Genetic_causes_and_underlying_disease_mechanisms_in_early-onset_osteoporosis/26919550?file=48964903, 2020
- Karin Salehi, Molecular and clinical studies of intestinal malrotation, https://openarchive.ki.se/articles/thesis/Molecular_and_clinical_studies_of_intestinal_malrotation/26912176?file=48956170, 2022
- Samara Arkani, Molecular and epidemiological studies of bladder exstrophy and epispadias complex, https://dspace.kib.ki.se/xmlui/handle/10616/48566, 2023
- Dominyka Batkovskyte, Genetic studies of rare skeletal disorders : to solve the unsolved, https://openarchive.ki.se/articles/thesis/Genetic_studies_of_rare_skeletal_disorders_to_solve_the_unsolved/26903353?file=48945721, 2024
Gästforskning och resestipendier
- Visiting professor, Pacific Northwest Diabetes Research Institute, 1 month visiting professor, 2024-2024
- Postdoctoral Researcher, Duke University, 2 year VR funder postdoc, focus on ciliopathies, CNV screening and zebrafish modelling, 2010-2012