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: FRONTIERS IN GENETICS. 2025;16:1580879
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;:1-10
- Article: EPILEPSIA. 2025
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2025;197(3):e63935
- Article: CLINICAL GENETICS. 2025;108(2):199-205
- Article: NEUROLOGY-GENETICS. 2025;11(1):e200238
- Article: SCIENTIFIC REPORTS. 2025;15(1):2912
- Journal article: GENETICS IN MEDICINE OPEN. 2025;3:102295
- Article: GENOME MEDICINE. 2024;16(1):146
- Article: ACTA OPHTHALMOLOGICA. 2024;103(3):327-338
- 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: JOURNAL OF INTERNAL MEDICINE. 2023;294(1):96-109
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2023;191(7):1929-1934
- Article: SCIENTIFIC REPORTS. 2023;13(1):6904
- Journal article: PATHOLOGY. 2023;55:s19-s20
- Journal article: PATHOLOGY. 2023;55:s17
- Article: FRONTIERS IN NEUROSCIENCE. 2023;17:1205653
- Article: FRONTIERS IN GENETICS. 2023;14:1174046
- Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005
- Article: PLOS ONE. 2023;18(7):e0289346
- 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: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022;65(1):104402
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2021;185(12):3593-3600
- Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2021;297(6):101355
- 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: HUMAN GENETICS. 2021;140(5):775-790
- Article: GENETICS IN MEDICINE. 2021;23(5):888-899
- Article: GENOME MEDICINE. 2021;13(1):63
- Article: GENOME MEDICINE. 2021;13(1):40
- Article: FRONTIERS IN GENETICS. 2021;12:708348
- Article: FRONTIERS IN GENETICS. 2021;12:803683
- 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: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020;182(5):1143-1151
- Article: BMC MEDICAL GENETICS. 2020;21(1):87
- 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: GENOME MEDICINE. 2019;11(1):68
- Article: SCIENCE ADVANCES. 2019;5(9):eaax2166
- Article: CLINICAL GENETICS. 2019;96(2):118-125
- 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: FRONTIERS IN GENETICS. 2019;10:896
- Article: FRONTIERS IN GENETICS. 2019;10:608
- Article: PLOS GENETICS. 2018;14(11):e1007780
- Article: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2018;812:1-4
- Article: HUMAN MUTATION. 2018;39(10):1456-1467
- Article: HUMAN MUTATION. 2018;39(9):1161-1172
- Article: HUMAN MUTATION. 2018;39(7):939-946
- Article: HUMAN MUTATION. 2018;39(4):495-505
- Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:380
- 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: NATURE NEUROSCIENCE. 2017;20(8):1043-1051
- Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(8):3029-3039
- Journal article: F1000 PRIME REPORTS. 2017;6:664
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(5):1396-1399
- Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(4):776-783
- Article: NATURE GENETICS. 2017;49(4):515-526
- Article: HUMAN MUTATION. 2017;38(2):180-192
- 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: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(3):507-513
- Article: JOURNAL OF MEDICAL GENETICS. 2015;52(2):111-122
- Article: PLOS ONE. 2015;10(7):e0131883
- 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: JOURNAL OF MEDICAL GENETICS. 2010;47(5):299-311
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010;152A(5):1233-1243
- Article: CLINICAL GENETICS. 2010;77(2):145-154
- Visa fler
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- 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, ̽»¨¾«Ñ¡, 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, ̽»¨¾«Ñ¡, 2016
- Medicine Doktorsexamen, Institutionen för molekylär medicin och kirurgi, ̽»¨¾«Ñ¡, 2010
- Läkarexamen, ̽»¨¾«Ñ¡, 1999
Handledning
- Elin Stavrén Eriksson, 2023
- Esmee ten Berk de Boer, 2023
- Olivia Henry, 2022
- Marlene Ek, 2021
- Kristine Bilgrav Saether, 2021
- Ida Nordgren, 2021
- Hillevi Lindelöf, 2020
- Emma Ehn, 2019
- Emelie Ponten, 2017
- Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases
- Jesper Eisfeldt, Characterization of structural chromosomal variants by massive parallel sequencing
- Jakob Schuy, Studies of structural chromosome rearrangments to identify genes involved in congenital brain disorders
- Maria Pettersson, STRUCTURAL GENOMIC VARIATION IN HUMAN DISEASE,
- Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS
- Anders Kämpe, Genetic causes and underlying disease mechanisms in early-onset osteoporosis,
- Karin Salehi, Molecular and clinical studies of intestinal malrotation,
- Samara Arkani, Molecular and epidemiological studies of bladder exstrophy and epispadias complex,
- Dominyka Batkovskyte, Genetic studies of rare skeletal disorders : to solve the unsolved,
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