Ann Nordgren

Ann Nordgren

Adjungerad Professor
E-postadress: ann.nordgren@ki.se
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


  • Adjungerad professor i klinisk genetik
    Forskargruppsledare för gruppen Sällsynta diagnoser, Institutionen för
    molekylär medicin och kirurgi [1]
    [1] https://ki.se/mmk/sallsynta-diagnoser

    Professor i klinisk genetik, Sahlgrenska Akademin/Sahlgrenska Unic´versitetssjukhuset

Forskningsbeskrivning

  • Sällsynta diagnoser

    Barncancerpredisposition

    Intellektuell funktionsnedsättning

    Missbildningar

    Syndromutredning

    Fenotypning

    Cytogenetik

    Genomik

    Epigenetik

Undervisning

  • Ämnesföreträdare - Klinisk genetik på läkarprogrammet i Göteborg

    Föreläser på grundutbildningen för läkare om Sällsynta diagnoser och Syndromutredning

    Utformat ST-kurs Sällsynta diagnoser som ges med jämna mellanrum.

    Föreläser regelbundet för ST-läkare och specialister inom pediatrik om syndromdiagnostik och barncancer predisposition samt om specifika genetiska syndrom

    Föreläser regelbundet på familjevistelser och patientträffar.

    Skrivit kapitel om syndromdiagnostik i läroboken "Genetiska sjukdomar" samt kapitel om specifika diagnoser i Socialstyrelsens databas för Sällsynta Hälsotillstånd

Utvalda publikationer

Artiklar

Alla övriga publikationer

Forskningsbidrag

  • Swedish Research Council
    1 January 2024 - 31 December 2026
    Pediatric Acute Lymphoblastic Leukemia (ALL) arises from lymphocyte progenitors and is known to present a hierarchy of cell differentiation, making it a suitable model disease for studying differentiation state instability and cancer stem cells. We will analyze ALL samples during treatment and at relapsed from the same patient using a novel method that allows RNA sequencing and genomic sequencing in jointly in the same single cells. Using this method, we will characterize the clonal structure of the leukemia and analyze clonal leukemic cell types in the primary sample of patients which later relapse. Since we obtain data on both the genotype (genomic sequencing) and gene expression profile (RNA-seq) of each cell, we can trace clonal expansions that are mainly driven by epigenetic factors as well as those driven by genetic alterations. Based on this map of treatment escape, we will 1) Determine molecular targets for therapy using a gene editing screen and 2) Test the added value of single-cell genomics for diagnostic tests (in collaboration with clinical genetics). The ultimate goal of the project is to gain a deep understanding of the cancer stem cell population in pediatric ALL tumors in a way that will have a direct impact on the treatment and prevention of ALL recurrence. To ensure that potential discoveries will have clinical diagnostic adaptation, we have partnered with experienced clinicians in genetics and hematopathology.
  • Barncancerfonden
    1 January 2024 - 31 December 2024
  • Barncancerfonden
    1 January 2024 - 31 December 2024
  • Swedish Cancer Society
    1 January 2023
    Research has in recent years shown that between 10-15% of all children with cancer have a congenital genetic change. This applies above all to children with adult tumors, various forms of cancer, close relatives affected by childhood cancer, children who have reacted with severe side effects of cancer treatment and children with malformations, overgrowth syndrome or other rare diseases. Congenital genetic changes can negatively affect prognosis by affecting treatment response and increasing the risk of therapy-related severe side effects. Such complications may in turn be possible to avoid if the congenital diagnosis is detected in time. All different forms of childhood cancer are studied using genetic analyzes with whole genome sequencing and epidemiological studies where we also use AI and machine learning. The project is about improving genetic diagnostics and introducing whole genome sequencing regarding congenital genetic changes in clinical routine. The project affects both diagnostics, treatment and prevention and will lead to more children being offered precision medicine with targeted treatments and that treatment complications can be avoided and new treatment targets can be identified. In addition, preventive screening programs can be offered to relatives at risk of cancer. We want to understand why children get cancer and understand the mechanisms of its occurrence and find ways to improve survival and quality of life for survivors of childhood cancer and their relatives. We want to try to answer the following questions. Is the incidence of childhood cancer higher in specific genetic syndromes? Is cancer more common in families with a child with cancer and how big is the risk for relatives? Are congenital genetic abnormalities detected in cancer cells at diagnosis correlated to prognosis, treatment outcome, infectious diseases, seasons and geographic locations? Can we find new disease and cancer associations?
  • Barncancerfonden
    1 January 2022 - 31 December 2022
  • Molecular and Epidemiological studies of Childhood Cancer predisposition
    Cancerföreningen i Stockholm
    1 January 2022 - 31 December 2024
  • Swedish Research Council
    1 December 2021 - 31 December 2025
    Our overall ambition is to study childhood cancer etiology through genetic, epidemiological and machine learning studies based on a novel machine learning algorithm in order to discover novel genes, pathways and molecular mechanisms as well as environmental factors critical in the development of childhood cancer. Our aim is to discover novel targets for therapy and situations where treatment should be modified to avoid toxicity or therapy resistance and when genetic counselling should be offered the family. We also want to identify risk factors for cancer development and contribute to the development of surveillance protocols, increase awareness of genetic predisposition and investigate the benefits of integrating germline sequencing into clinical practice in pediatric oncology. The long-term objective is to identify risk factors and to translate rare phenotypes into gene discoveries and to improve diagnostics and precision medicine in order to reduce morbidity and mortality of cancer in children.
  • Swedish Research Council
    1 January 2021 - 31 December 2023
  • Swedish Cancer Society
    1 January 2020
    In recent years, research has shown that more than 10% of all children affected by cancer have congenital genetic changes as a contributing cause of their disease. This is especially true for children with rare tumors that normally only occur in adults, children who suffer from several different cancers, children with several close relatives who suffered from cancer at an early age, children who suffer from abnormally severe side effects of cancer treatment and children with cancer and malformations, overgrowth syndrome, epilepsy, intellectual disability, autism, or other rare disease. It is important to find these patients as it can save lives. We want to introduce diagnostics into clinical routine to look for known and new congenital genetic abnormalities and then compare them with genetic abnormalities in cancer cells in people with cancer, children whose cancer type or side effect profile gives strong suspicion of congenital genetic causes and people who included in families where more than one child has been affected by cancer. We want to use new DNA and RNA based methods that are based on sequencing of the entire human genome. In cases where we find new suspected cancer-associated genes, we will proceed with various functional studies in animal models and cells from patients. I want to identify patients who need a tailored treatment and understand the mechanisms of emergence and find new disease genes behind the syndrome and cancer. Increased knowledge about familial cancer and why certain syndromes are associated with cancer risk and increased sensitivity to cytotoxic drugs and radiation is important and will lead to improved care, tailored therapies and opportunities to implement preventive measures in the affected individual and his family. . The research also leads to increased knowledge about childhood cancer in general, which can lead to improved diagnostics and treatment and improved survival.
  • Constitutional genetic aberrations behind childhood cancer predisposition
    Swedish Cancer Society
    1 January 2019
    In recent years, research has shown that more than 10% of all children affected by cancer have congenital genetic changes as a contributing cause of their disease. This is especially true for children with rare tumors that normally only occur in adults, children who suffer from several different cancers, children with several close relatives who suffered from cancer at an early age, children who suffer from abnormally severe side effects of cancer treatment and children with cancer and malformations, overgrowth syndrome, epilepsy, intellectual disability, autism, or other rare disease. It is important to find these patients as it can save lives. We want to introduce diagnostics into clinical routine to look for known and new congenital genetic abnormalities and then compare them with genetic abnormalities in cancer cells in people with cancer, children whose cancer type or side effect profile gives strong suspicion of congenital genetic causes and people who included in families where more than one child has been affected by cancer. We want to use new DNA and RNA based methods that are based on sequencing of the entire human genome. In cases where we find new suspected cancer-associated genes, we will proceed with various functional studies in animal models and cells from patients. I want to identify patients who need a tailored treatment and understand the mechanisms of emergence and find new disease genes behind the syndrome and cancer. Increased knowledge about familial cancer and why certain syndromes are associated with cancer risk and increased sensitivity to cytotoxic drugs and radiation is important and will lead to improved care, tailored therapies and opportunities to implement preventive measures in the affected individual and his family. . The research also leads to increased knowledge about childhood cancer in general, which can lead to improved diagnostics and treatment and improved survival.
  • Barncancerfonden
    1 January 2019 - 31 December 2019
  • Swedish Research Council
    1 January 2019 - 31 December 2021
  • Swedish Research Council
    1 January 2019 - 31 December 2021
  • The importance of innate genetic factors for childhood cancer
    Swedish Cancer Society
    1 January 2018
    Little is known about the importance of congenital changes in childhood cancer. Previously, it has been said that congenital syndrome and cancer are two completely different things. In recent years, research has shown that there are often the same genes and signal pathways that are involved in the different conditions. Most cases occur sporadically and it is very rare for several children within the same family to suffer. However, there are rare families where several close relatives suffered from childhood cancer. These families are very interesting from a research point of view because they allow the identification of cancer-associated genes. There are also congenital syndromes that increase the risk of cancer. The purpose is to understand emergence mechanisms and find new disease genes behind syndrome and childhood cancer. We want to use modern technology with sequencing of all human genes to characterize innate genetic abnormalities and compare with genetic abnormalities in cancer cells in people with syndrome and in families where more than one child affected by childhood cancer. We have also collected 380,000 people with various rare genetic diagnoses in a unique registry study to investigate cancer incidence and risk in specific rare diagnoses. Identification of new disease genes and mechanisms behind syndrome and cancer development and familial cancer will give increased knowledge of childhood cancer as a whole and that this can eventually lead to opportunities for preventive measures and new therapies. If cancer cells can be detected already in PKU samples, this can lead to a new understanding of the growth of cancer cells. The registry study is the first of its kind and will lead to new insights on cancer risk in relatives and other associated symptoms in various congenital rare diseases and childhood cancer.
  • Swedish Research Council
    1 January 2018 - 31 December 2020
  • The importance of innate genetic factors for childhood cancer
    Swedish Cancer Society
    1 January 2017
    Little is known about the importance of congenital changes in childhood cancer. Previously, it has been said that congenital syndrome and cancer are two completely different things. In recent years, research has shown that there are often the same genes and signal pathways that are involved in the different conditions. Most cases occur sporadically and it is very rare for several children within the same family to suffer. However, there are rare families where several close relatives suffered from childhood cancer. These families are very interesting from a research point of view because they allow the identification of cancer-associated genes. There are also congenital syndromes that increase the risk of cancer. The purpose is to understand emergence mechanisms and find new disease genes behind syndrome and childhood cancer. We want to use modern technology with sequencing of all human genes to characterize innate genetic abnormalities and compare with genetic abnormalities in cancer cells in people with syndrome and in families where more than one child affected by childhood cancer. We have also collected 380,000 people with various rare genetic diagnoses in a unique registry study to investigate cancer incidence and risk in specific rare diagnoses. Identification of new disease genes and mechanisms behind syndrome and cancer development and familial cancer will give increased knowledge of childhood cancer as a whole and that this can eventually lead to opportunities for preventive measures and new therapies. If cancer cells can be detected already in PKU samples, this can lead to a new understanding of the growth of cancer cells. The registry study is the first of its kind and will lead to new insights on cancer risk in relatives and other associated symptoms in various congenital rare diseases and childhood cancer.
  • The importance of innate genetic factors for childhood cancer
    Swedish Cancer Society
    1 January 2016
    Little is known about the importance of congenital changes in childhood cancer. Previously, it has been said that congenital syndrome and cancer are two completely different things. In recent years, research has shown that there are often the same genes and signal pathways that are involved in the different conditions. Most cases occur sporadically and it is very rare for several children within the same family to suffer. However, there are rare families where several close relatives suffered from childhood cancer. These families are very interesting from a research point of view because they allow the identification of cancer-associated genes. There are also congenital syndromes that increase the risk of cancer. The purpose is to understand emergence mechanisms and find new disease genes behind syndrome and childhood cancer. We want to use modern technology with sequencing of all human genes to characterize innate genetic abnormalities and compare with genetic abnormalities in cancer cells in people with syndrome and in families where more than one child affected by childhood cancer. We have also collected 380,000 people with various rare genetic diagnoses in a unique registry study to investigate cancer incidence and risk in specific rare diagnoses. Identification of new disease genes and mechanisms behind syndrome and cancer development and familial cancer will give increased knowledge of childhood cancer as a whole and that this can eventually lead to opportunities for preventive measures and new therapies. If cancer cells can be detected already in PKU samples, this can lead to a new understanding of the growth of cancer cells. The registry study is the first of its kind and will lead to new insights on cancer risk in relatives and other associated symptoms in various congenital rare diseases and childhood cancer.
  • Swedish Research Council
    1 January 2016 - 31 December 2018
  • Swedish Research Council
    1 January 2012 - 31 December 2014

Anställningar

  • Adjungerad Professor, Molekylär medicin och kirurgi, Karolinska Institutet, 2019-2027

Examina och utbildning

  • Docent, Medicinsk genetik, Karolinska Institutet, 2010
  • MEDICINE DOKTORSEXAMEN, Institutionen för molekylär medicin och kirurgi, Karolinska Institutet, 2001

Nyheter från KI

Kalenderhändelser från KI