Ann Nordgren

Ann Nordgren

Adjunct Professor
Visiting address: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
Part of:

About me

  • Ann Nordgren is Professor and Senior Physician of Clinical Genetics. She received her medical degree in 1991, licence to practice medicine 1993 and PhD degree 2001 at Karolinska Institute, Sweden, and became board certified  specialist in Clinical Genetics in 2002. She became Adjunct Professor in Clinical genetics at Karolinska Institutet 2015 and Professor of Clinical Genetics in 2022 at the Department of Biomedicine, Gothenburg University. She has previously been the head of the Clinical Genetics Department at Norrlands Universitetssjukhus 2002-2004, head of Clinical Genetics  outpatient clinic 2004-2012, Vice Head of the Department of Clinical genetics 2012-2018, and Project leader of the Center for Rare Diseases at Karolinska University Hospital 2012-2018. Ann Nordgren is, together with Anna Lindstrand group leader for the research group Rare Diseases at Karolinska since 2015. Her clinical work is mainly focused on syndrome and leukemia diagnostics, using detailed phenotyping and modern omics technologies.  In 2012 Ann Nordgren started a clinical and research multidisciplinary expert team for syndrome diagnostics and this team is now part of the iUndiagnosed Diseases Network International (UDNI) Undiagnosed Diseases Program (UDP). Ann Nordgren is the Swedish coordinator of the European Reference Network (ERN) for Congenital malformations and Intellectual Disability (ERN ITHACA) and co-chair of the UDNI diagnostic working group.

    Ann Nordgren initiated and has led the National Genomic Medicine Sweden Childhood Cancer Predisposition project since 2021 that has resulted in changed clinical routines in 2024 where germline genome sequencing was introduced in clinical practice for all children with cancer in Sweden.  She is also initiator and coordinator of the GMS Undiagnosed Diseases Network (UDN Sweden) project, where children with intellectual disabilities and congenital malformation syndromes without an etiological diagnosis are offered multi-omics technologies combined with careful phenotyping.

Research

  • Ann Nordgren studies Rare Diseases from a holistic perspective through several different approaches, a. Multiomics, b. Register-based studies,   c. Careful phenotyping of diagnosed rare diseases and d. Psychosocial studies. e. Collaboration with patients and families.

    Ann Nordgren has supervised 20 PhD students as well as seven postdocs, and her research has resulted in more than 200 peer-reviewed papers.

    Ann Nordgren is PI for the following projects:

    ChiCaP: The Childhood Cancer Predisposition, ChiCaP project: This project aims to investigate congenital genetic causes of cancer in

    children by analyzing both normal and cancer cells using modern omics-based methods. The goal is to identify new syndromes with hereditary predisposition to childhood cancer, discover new therapeutic targets, and generate knowledge that can lead to improved diagnostics, treatment, follow-up, and prevention. By increasing our understanding of the underlying mechanisms of childhood leukemia, we strive to reduce mortality, morbidity, and long-term complications in affected children. Specific objectives: To identify novel ChiCaP syndromes using modern omics technologies; To map breakpoints in somatic structural chromosomal aberrations and look for disease mechanisms and treatment targets and to search for these aberrations in neonatal screening samples (PKU samples) and To evaluate whether broader genetic testing with long-read whole genome sequencing (WGS), RNA sequencing, and deep exome sequencing can replace current in silico gene panel analyses of WGS data, with the aim of improving diagnostic accuracy for ChiCaP syndromes.

    GMS UDN Sweden: GMS Undiagnosed Diseases Network Sweden. The study provides diagnostic support to children with unexplained intellectual disabilities and congenital malformations using multi-omics approaches. We perform longread and shortread DNA and RNA sequencing, deep exome sequencing and Episignature analyses to find diagnoses in individuals with rare ID syndromes and congenilal malformation syndromes. All findings are returned to the patient and the referring physicians.

    UNIKA: This project aims to conduct a comprehensive phenotypic characterization of individuals with known genetic etiologies of rare syndromes, emphasizing behavior, brain abnormalities, and biological markers. By investigating individuals with established genetic diagnoses, we seek to understand how specific genetic variants influence brain development, behavior, and overall functioning. The project utilizes clinical assessments, advanced eye-tracking technology, experimental psychological methods, cognitive profiling, and state-of-the-art imaging techniques, including functional and structural MRI, to explore key neurodevelopmental aspects. Blood biomarkers are also analyzed to identify potential links between hormonal or metabolic imbalances and behavioral patterns. Functional studies in induced pluripotent stem cells (iPSC) are being conducted, with a current focus on Williams syndrome. This integrative approach aims to identify syndrome-specific phenotypes and underlying mechanisms contributing to intellectual and neuropsychiatric challenges in rare diseases. In addition, we are developing  games for cognitive and motor skill testing.

    PSYCHOSOCIAL STUDIES: Alongside our biomedical research, we also investigate the social, cultural, and emotional dimensions of living with a rare disease or undergoing the diagnostic process. Using both qualitative and quantitative methods—including questionnaires, in-depth interviews, and focus groups—we work closely with patients, families, and healthcare providers. These studies explore experiences of primary and specialist care, perceptions of genetic testing, and how individuals interpret and respond to genetic information. We also examine how cultural and societal factors shape these experiences. The insights gained help improve communication, support services, and clinical practices, ensuring they are more responsive to the needs and realities of those affected.

    RAreDIseases and CAncer (RADICA): Ann Nordgren is register owner of a large population-based register where genetic data from Region Stockholm has been linked to ICD codes to study comorbidities and cancer risk in rare diseases and how the rare disease affect the families.

    SYMPTOMICS: The project aims to develop a scalable and sustainable infrastructure for managing health data related to rare diseases (RDs). At its core is the creation of a regional, structured data layer-a Healthcare Data Warehouse based in Region Stockholm at Karolinska University Hospital. The data-layer, named SYMPTOMICS will be designed to support diagnostics, phenotype–genotype integration and clinical decision-making. The data-layer will serve as a regional hub for the storage, analysis, and secure sharing of diverse health data. The data includes structured phenotypic information, clinical laboratory results, multi-omics data, observational health data (including electronic health records from multiple healthcare providers), patient-reported outcomes, and published Real-World Evidence. It will enable automated entry of health data into National health and quality registers. SYMPTOMICS will be designed with global applicability in mind - including semantics, regulations, data logistics, and user needs.

Teaching

  • She has served as the responsible subject representative for Clinical Genetics and has, since 2022, been actively involved in the implementation of the new medical program in Gothenburg.

Selected publications

Articles

All other publications

Selected grants

  • Swedish Research Council
    1 December 2025 - 30 November 2029
    The aim of our research is to reduce mortality and severe late effects of childhood cancer by studying childhood cancer predisposition. The goal is to identify genetic alterations that predispose individuals to childhood cancer and to improve care for these patients through precision diagnostics, prevention, targeted treatments, and genetic counseling.We use modern omics-based approaches to study both germline and cancer cells, combined with questionnaires, detailed phenotyping and registry-based studies where we have ethical approval to add omics data to the dataset. We will perform long-read sequencing to look for virus sequences close to oncogenes and, in collaboration with Janne Lehtiö, look for neoantigens in tumor cells, as potential biomarkers and targets for vaccine development. We have created a unique dataset in which genetic data from hospital laboratories have been linked to population-based registry data (16.1M Swedes). We will now add genomics data to the dataset and perform both traditional epidemiological methods and machine learning to look for novel childhood cancer genes and find novel associations to disease and late side effects. Our research has the potential to find novel cancer predisposition syndromes, treatment targets and to improve diagnostic methods that can be quickly integrated into clinical practice.
  • Brain Foundation
    1 July 2025 - 1 July 2027
    i) Frågeställning: Vilka långsiktiga effekter har olika genetiskt orsakade syndrom med IF på individers fysiska och psykiska hälsa ur ett hela livet perspektiv? Kan vi ha nytta av artificiell intelligens (AI) för att förbättra diagnostiken och hitta nya sjukdomsassociationer? ii) Metoder: Vi kommer att samla in DNA och utföra helgenomsekvensering på äldre individer med odiagnosticerade IF-syndrom. Vi vill även utveckla ett billigt och bra sätt att testa tusentals vuxna med IF på DNA från filterpapper och sedan koppla genetiska resultat till hälsodata och demografiska data. Medicinska undersökningar och neuropsykologiska tester kommer att utföras. Vissa kognitiva och motoriska tester genomförs i en spelmiljö på surfplatta med ett spel som vi har utvecklat i forskargruppen.. VI har ett forskningsregister där vi länkat samman genetiska resultat med Nationella hälsodata och demografiska data. Totalt sträcker sig datauttaget fram till 2019 och innehåller hela Sveriges levande och historiska population som länkats till Socialstyrelsens olika register. Det finns totalt 56 000 personer registrerade med IF i vårt uttag. Erfarna AI forskare i gruppen skall använda Transformers som är en avancerad AI-arkitektur som används inom naturlig språkbehandling och generativ AI för att analysera stora mängder data. Vi skall studera registerdata i kombination med genomikdata för att förbättra diagnostiken och hitta nya mönster. Även traditionella epidemiologiska metoder kommer att användas iii) Förväntade resultat/vetenskaplig betydelse: Genom att diagnosticera och undersöka äldre individer med genetiskt betingad IF hoppas vi kunna accelerera kunskapsutvecklingen och fylla viktiga kunskapsluckor, särskilt kring risker och associerade sjukdomar hos vuxna. Problemet med många sällsynta diagnoser är att de diagnosticerats hos barn med genteknik som infördes för 10-15 år sedan och att vuxna aldrig erbjudits dessa analyser. Genom att koppla genetiska fynd till populationsbaserade register kan vi utföra studier som tidigare inte kunnat utföras på grund av att ICD koder saknas för flertalet sällsynta diagnoser. Vi kommer att få en ökad kunskap om olika symtom och risker som kan uppkomma under livet vid olika sällsynta diagnoser, exempelvis psykiska sjukdomar, stroke, demens eller cancer. Förhoppningsvis kommer vår forskning att leda till en förbättrad diagnostik och mer skräddarsydd vård för individer med IF vilket i sin tur att kan leda till en förbättrad livskvalitet.
  • Molecular and Epidemiological studies of Childhood Cancer predisposition
    Cancerföreningen i Stockholm
    1 April 2025 - 31 December 2027
    Mål: Vi vill förstå varför barn får cancer och hitta sätt att bota fler och förbättra livskvaliten för överlevare med barncancer. Frågeställningar: Kan vi med modern genteknik och registerstudier identifiera nya och tidigare kända tillstånd med barncancerpredisposition? Hur påverkar medfödda genetiska tillstånd prognos, behandlingssvar och risken för sena effekter? Kan vi hitta nya behandlingsmål? Kan vi genom att kombinera registerdata med genomdata och AI/Maskininlärning hitta nya cancerassociationer och få en ökad kunskap om etiologi, överlevnad och senkomplikationer? Bakgrund: Medfödda genetiska förändringar kan påverka prognosen negativt genom att påverka behandlingssvar och öka risken för terapirelaterade svåra biverkningar. Sökanden är koordinator för en nationell studie GMS – Barncancerpredisposition som under året har lett fram till att alla barn med cancer i Sverige nu utreds avseende cancerpredisposition inom klinisk rutin. Metoder: a.Genetiska analyser: Helgenom trio short-read sekvensering RNA sekvensering, och metyleringsarrayer. Barn med medfödda strukturella rearrangemang skall undersökas med long-read sekvensering.. b.Registerstudier med klassiska epidemiologiska metoder och maskininlärning: Sökanden är registerhållare för ”RADICA” – ett datauttag som innehåller 19 000 barncancerfall, >14 000 individer med molekylärt verifierade diagnoser samt 16.1 M kontroller med information inhämtad från Svenska barncancerregistret, Socialstyrelsens hälsodataregister, Karolinska Universitetslaboratoriet och Statistiska centralbyråns populationsregister. Betydelse: Projektet kommer att leda till att fler barn får en korrekt diagnos och kan erbjudas riktad behandling och uppföljning. Om vi kan kombinera genomikdata med populationsbaserade register och svenska barncancerregistret kan vi få en ökad förståelse för olika biomarkörers, terapiers och genetiska förändringars betydelse för överlevnad och sena komplikationer vid barncancer.
  • Barncancerfonden
    1 January 2025 - 31 December 2025
  • Swedish Cancer Society
    1 January 2025 - 31 December 2027
    Today, around 85% of all children with cancer cases are cured, but approximately 70% suffer from late side effects.We aim to investigate childhood cancer predisposition through different approaches: 1. Comprehensive multi-omics analyses of WGS trios, and WGS longread, RNA seq, and methylation array data. 2. By screening children with WGS gene panel. 3. By traditional registry studies using classical epidemiological methods and/or machine learning. 4. By machine learning, where genomic data from 800 children with cancer is combined with Swedish population and health registers and the Swedish Childhood Cancer Registry. Our goals are : • To identify new syndromes that cause childhood cancer predisposition. • To find predictive markers that enables precision medicine so that more children are diagnosed and cured with tailored treatments and the risk of serious late side effects is reduced. • To determine if childhood cancer predisposition is overrepresented among children who have died from cancer or experienced second cancers. • To find novel cancer associations and risks • To demonstrate the enormous potential for future precision medicine in combining genomic data with healthcare data, data from quality registers, and Swedish health and population data. We aim to gain a better understanding of why cancer occurs and the significance of different biomarkers, therapies, and genetic changes, for survival and late complications.
  • 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
  • Swedish Research Council
    1 December 2021 - 31 December 2025
  • 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.
  • Barncancerfonden
    1 January 2019 - 31 December 2019

Grants

  • Miniscrew assisted space closure in patients with agenesis of an upper lateral incisor - clinical in vivo and experimental in vitro studies
    Karolinska Institutet
    2 March 2026 - 29 February 2032
    Congenital agenesis of the maxillary lateral incisors presents significant functional and aesthetic challenges, and there is limited evidence regarding the most effective and sustainable treatment strategy. This research project aims to evaluate orthodontic space closure using skeletal anchorage from two temporary palatal implants (the Mesialslider) and to compare this approach with space opening followed by prosthetic replacement. The project investigates treatment efficiency, changes in facial profile, health‑economic outcomes, and the mechanical properties of the palatal implants used for anchorage. The project is designed as a randomized controlled trial in which patients with agenesis of the maxillary lateral incisors receive either active or passive Mesialslider treatment over a six‑month period. Treatment outcomes are assessed using intraoral scanning, 3D facial photography, and patient‑reported measures at multiple time points. Dental and soft‑tissue changes are analyzed through digital superimposition. A comparative health‑economic analysis will evaluate cost‑effectiveness between Mesialslider‑mediated space closure and traditional space opening with subsequent prosthetic rehabilitation. An additional in vitro study will examine the mechanical strength and fracture patterns of the palatal implants by measuring insertion torque and assessing fracture surfaces via electron microscopy. This project addresses a clinically relevant knowledge gap and requires interdisciplinary expertise in orthodontics, oral radiology, clinical genetics, biomechanics, and health economics. The results are expected to strengthen evidence‑based treatment planning, improve cost‑effectiveness, and enhance patient care. The project will also contribute to postgraduate training and teaching within the dental, dental hygiene, and advanced orthodontic programmes by expanding knowledge in craniofacial genetics, evidence‑based management of anterior agenesis, patient‑reported outcome measures, intraoral scanning, 3D imaging, biomechanics, and health‑economic evaluation.
  • Optimized Care for Adults with Genetically Caused Syndromes in Primary Care
    Region Stockholm
    1 January 2025 - 31 December 2026
  • Barncancerfonden
    1 January 2024 - 31 December 2024
  • 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.
  • Molecular and Epidemiological studies of Childhood Cancer predisposition
    Cancerföreningen i Stockholm
    1 January 2022 - 31 December 2024
  • Swedish Research Council
    1 January 2021 - 31 December 2023
  • Donation Bertil Hållsten
    Bertil Hållsten forskningsstiftelse
    20 July 2020 - 20 July 2023
  • 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.
  • 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.
  • Swedish Research Council
    1 January 2016 - 31 December 2018
  • 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 2012 - 31 December 2014

Employments

  • Director Center for Rare Diseases, Karolinska University hospital, Director Center for Rare Diseases, Karolinska, Department of Clinical genetics and Genomics, Karolinska University Hospital, 2026-
  • Professor in Clinical genetics, Sahlgrenska Academy, Gothenburg University, Clinical genetics, Laboratory Medicine, University of Gothenburg, 2022-
  • Senior Consultant in Clinical genetics Sahlgrenska University hospital, Clinical genetics and genomics, Klinisk genetik och genomik, Sahlgrenska University Hospital, 2022-
  • Adjunct Professor, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2019-2027
  • Adjunct Professor in Clinical genetics, Karolinska Institute, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2015-2027
  • Specialist Consultant in Clinical genetics, Clinical genetics, Klinisk genetik, Norrlands Universitetssjukhus, 2002-2004
  • Postdoc, Postdoc Gösta Holmgren Research group, Norrlands Universitet, 2002-2004

Degrees and Education

  • Specialist in Clinical genetics, Medical genetics, Klinisk genetik, Karolinska Universitetssjukhuset, 2022
  • Docent/ Associate professor in Medical genetics, Medical genetics, Karolinska Institutet, 2010
  • PhD, Childhood cancer, Characterization of Chromosomal Aberrations in Childhood Leukemia, Molecular Medicine and Surgery, Karolinska Institutet, 2001
  • Licensed Physician (Sweden), Karolinska Institutet, 1993
  • Master of Science in Medicine (equivalent to MD), Gothenburg University, 1991

Leadership and responsibility assignments

  • Responsible for a section, Director Karolinska Center for Rare Diseases, Region Stockholm-Gotland, Clinical genetics and genomics, Karolinska University Hospital, 2026-
  • Director of studies, Course director for clinical genetics in the medical program, Laboratory medicine, University of Gothenburg, Sahlgrenska Academy, 2022-
  • Research team leader, Research group leader, Laboratory Medicine, University of Gothenburg, https://www.gu.se/om-universitetet/hitta-person/annnordgren, 2022-
  • Research team leader, Research group leader, Molecular Medicine and Surgery, Karolinska Institutet, https://ki.se/en/research/research-areas-centres-and-networks/research-groups/rare-diseases-ann-nordgren-och-anna-lindstrands-research-group, 2015-
  • Responsible for a section, Project leader Centrum för Sällsynta diagnoser, , Karolinska, Clinical genetics, Karolinska University Hospital, 2012-2018
  • Vice president, Vice Head of Department of Clinical genetics, Clinical genetics, Karolinska University Hospital, 2012-2018
  • Responsible for a section, Head Outpatient clinic, De of Clinical genetics, Clinical genetics, Karolinska University Hospital, 2004-2012
  • Head of department, Head Dep of Clinical genetics, Norrland University hospital, Klinisk Genetik, Klinisk genetik, 2002-2004

Supervision

  • Supervision to doctoral degree

    • Sofia Wachtmeister, Precisionsdiagnostik och symtomkartläggning vid neuropsykiatrisk funktionsnedsättning, 2026-
    • Hillevi Lindelöf, Syndromes with skeletal abnormalities: aspects of natural course and molecular genetics, 2026
    • Carolina Maya Gonzalez, Novel genetic causes of childhood cancer predisposition, 2025
    • 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
    • Sandra Wessman, Precision medicine of ovarian cancer for adults and children : molecular, hereditary and clinical aspects, 2023
    • Sintia Kolbjer, Central nervous system malformations and epilepsy in children : genetic, imaging, and clinical aspects, 2023
    • Benedicte Bang, STUDIES OF CONGENITAL GENETIC ABERRATIONS BEHIND CHILDHOOD LEUKEMIA, 2023
    • Alexandra Wachtmeister, Congenital Malformations and Childhood Cancer Predisposition, 2022-
    • Annika Danielsson, Rare pediatric movement disorders : clinical aspects of genotype, phenotype, and assessment, 2022
    • Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases, 2022
    • 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
    • Emeli Pontén, Epidemiological and genetic studies of childhood cancer etiology, 2018-
    • Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS, 2018
    • Martin Paucar, Genotype-phenotype characterization of familial hyperkinetic movement disorders : emphasis on ataxia and brain calcifications., 2015
    • Vasilios Zachariadis, Molecular studies of prognostic and etiological factors in childhood leukemia, 2015
    • Tobias Laurell, Genetic studies of congenital upper limb anomalies, 2014
    • Christina Evmorphia Kampitsi
    • Fredrika Gauffin
    • Jesper Ottosson
    • Sinan Dahreb, Miniscrew-Assisted Orthodontic Space Closure in Missing Maxillary Anterior Teeth
    • Katja Ekholm
    • Sara Sjögren, Epidemiological and clinical studies of constitutional mismatch repair deficiency syndromes (CMMRD).

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