Anna Lindstrand

Anna Lindstrand

Adjungerad Professor
E-postadress: anna.lindstrand@ki.se
Telefon: +46852482722
Besöksadress: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postadress: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
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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

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Artiklar

Alla övriga publikationer

Forskningsbidrag

  • Swedish Research Council
    1 January 2023 - 31 December 2026
    The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, inversions and translocations. A single event may affect many genes as well as regulatory regions and the specific phenotypic consequences will depend on the location, genetic content and type of SV.  Many times, the specific disease-causing mechanism is not known. Here, we plan to study the molecular genetic behavior of structural variants as well as the underlying mutational mechanisms involved.First, we will use genome sequencing to pinpoint the chromosomal breakpoints at the nucleotide level, characterize the genomic architecture at the breakpoints and study the relationship between structural variants and SNVs. Second, we will study how structural variants impact gene expression. Finally, we will functionally explore the disease mechanisms in vivo using zebrafish and in vitro using primary patient cells and induced pluripotent stem cells.Our studies will focus on the origin, structure and impact of structural variation on human disease. The results will directly lead to a higher mutation detection rate in genetic diagnostics. Through a better understanding of disease mechanisms our findings will also assist in the development of novel biomarkers and therapeutic strategies for patients with rare genetic disorders.
  • Swedish Cancer Society
    1 January 2022
    Acute myeloid leukemia (AML) annually affects more than 300,000 people worldwide, and in Sweden approximately 350 new cases are diagnosed each year. The prognosis is poor, many relapse several times in the disease and about 75% die within five years. The treatment is based on combining several different cytostatics, with cytarabine (ara-C) being the most effective. Many different genetic changes have been described in AML and some of these are used clinically as prognostic markers and to find relapses early. However, there are no genetic tests that can be used to tailor cancer treatment. Recently, it has been shown that SAMHD1 expression influences treatment effect in AML patients. Lower expression leads to better effect of ara-C. We have established a zebrafish model that will be used to (i) study in vivo how SAMHD1 affects ara-C effect, (ii) identify chemicals that lower SAMHD1 expression and function, and (iii) identify potential drugs that are not affected by SAMHD1. We plan here to study in a zebrafish model of AML how genetic factors affect the effect of chemotherapy and to use the same system to identify chemicals that have a similar effect. This is very relevant to the leukemia field, and can be used in different types of leukemia. An advantage of developing such an animal model is to be able to research specific mutations found in patients and how they affect the treatment in a rapid manner. Therefore, we can offer patients the best treatment and improve their survival.
  • Swedish Research Council
    1 January 2020 - 31 December 2025
    The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, inversions and translocations. A single event may affect many genes as well as regulatory regions and the specific phenotypic consequences will depend on the location, genetic content and type of SV.  Many times, the specific disease-causing mechanism is not known. Here, we plan to study the molecular genetic behavior of structural variants as well as the underlying mutational mechanisms involved.First, we will use genome sequencing to pinpoint the chromosomal breakpoints at the nucleotide level, characterize the genomic architecture at the breakpoints and study the relationship between structural variants and SNVs. Second, we will study how structural variants impact gene expression. Finally, we will functionally explore the disease mechanisms in vivo using zebrafish and in vitro using primary patient cells and induced pluripotent stem cells.Our studies will focus on the origin, structure and impact of structural variation on human disease. The results will directly lead to a higher mutation detection rate in genetic diagnostics. Through a better understanding of disease mechanisms our findings will also assist in the development of novel biomarkers and therapeutic strategies for patients with rare genetic disorders.
  • Swedish Research Council
    1 January 2019 - 31 December 2021
  • Swedish Research Council
    1 January 2019 - 31 December 2021
  • Zebrafish studies to develop new treatments for drug-resistant leukemia
    Swedish Cancer Society
    1 January 2018
    Acute myeloid leukemia (AML) annually affects more than 300,000 people in the world and in Sweden about 350 new cases are diagnosed each year. The prognosis is poor, many relapse several times in disease and about 75% die within five years. The treatment is based on combining several different chemotherapy drugs where cytarabine (ara-C) is most effective. Many different genetic changes are described at AML and some of these are used clinically as prognostic markers and to find relapses early. However, there are no genetic tests that can be used to tailor cancer treatment. Recently, it has been shown that AML patients with genetic variants in the SAMHD1 gene have a better effect of ara-C. We have established a zebrafish model that will be used to (i) study in vivo how SAMHD1 affects the ara-C effect, (ii) identify chemicals that function in the same way as SAMHD1 and (iii) study if / how SAMHD1 affects cancer development. The goal is to use the zebrafish model to identify chemicals that increase the cells' sensitivity to cytostatics. In the long term, the results can lead to new treatment strategies and better survival for people with AML. This is very relevant to the entire leukemia area. One prerequisite for being able to offer individual-based care and treatment to patients with leukemia is that we first understand how congenital variants affect cancer development and treatment effect.
  • Swedish Research Council
    1 January 2018 - 31 December 2021
  • Swedish Research Council
    1 January 2013 - 31 December 2015
  • Swedish Research Council
    1 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

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

Nyheter från KI

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