Kristiina Tammimies

Kristiina Tammimies

Senior Lecturer | Docent
Visiting address: BioMedicum A4, Solnavägen 9, 17165 Solna
Postal address: K6 Kvinnors och barns hälsa, K6 Neuropsykiatri Tammimies, 171 77 Stockholm
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About me

  • Research group leader at KIND with a focus on decoding genetic and molecular pathways in neurodevelopmental disorders.
    Associate Professor (Docent) in Medical Genetics 2021

    Current positions/delegations

    2024– Director of Doctoral Education, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden

    2022– Principal Researcher, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
    2016–  Research Group Leader, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden 

    2015–  Deputy Director of the Center of Neurodevelopmental Disorders at Karolinska Institutet (KIND)

     Education and postdoctoral training

    2007 MSc, University of Oulu, Finland, Major subject: Genetics
    2011 PhD, Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden
    Thesis title: Molecular studies of dyslexia: regulation and function of DYX1C1
     
    2012–2015 VR International Postdoctoral Fellowship, Host department: Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden. 
    Placement 2012-2014: The Hospital for Sick Children, University of Toronto, Genomics and Genome Biology. Supervisor: Prof Stephen Scherer
    Placement 2015: Department of Women's and Children's Health, Center of Neurodevelopmental Disorders (KIND), Supervisor: Prof Sven Bölte
     
    Selected awards and grants
     
    2024 LifeWatch Foundation Award for Autism Research
    2023 The Swedish Research Council Consolidator Grant recipient
    2023 StratNeuro Bringing to Consolidator recipient
    2022 KI Research Incubator (KIRI) Fellow
    2020 Selected as Future Research Leaders program by the Swedish Foundation of Strategic Research
    2019 KI Faculty funding senior research position
    2018 Starting grant from The Swedish Research Council 
    2017 The Jeanssons Foundation personal award to particularly outstanding young researchers
    2016 Faculty-funded Assistant Professor Position
    2016 L'Oréal-UNESCO For Women in Science-prize in Sweden 
    2015 Ingvar Carlsson Award 6 from the Swedish Foundation of Strategic Research
     
    Commission of trust:
    2024- Department Management Group, Dept. Women's and Children's Health, KI
    2024- Director of Doctoral Education, Dept. Women's and Children's Health, KI
    2020-2024 Member of the Bioclinicum House Council –  Research Theme Women, Children, and Genetics 
    2019-2020 Elected vice-chair for KI Junior Faculty
    2019-2020 Adjunct member of the Committee for Research at Karolinska Institutet
    2019 Member of the Faculty Council at Karolinska Institutet
    2018 – 2022 COST action EnGagE Psychiatric Genetic testing work group leader
    2016- Member of the Doctoral Education Admission Board at the Department 
    2015- Deputy Director of the Center of Neurodevelopmental Disorders at Karolinska Institutet

Research

  • My research focuses on understanding the genetic and molecular architecture of neurodevelopmental and neuropsychiatric disorders, how genetic variations affect symptoms within these conditions, and the severity and intervention outcomes in affected individuals. We combine clinical, genetic, and molecular data with other data types using traditional methods and machine-learning algorithms. Additionally, my research group aims to identify molecular and cellular pathways affected by genetic and environmental risk factors of neurodevelopmental disorders using neuronal cells. 

Teaching

  • My expertise in teaching focuses on genetics, functional genomics, and neurodevelopmental disorders, emphasizing the clinical application of genetic and biological knowledge. During my teaching career, I have engaged in teaching and supervision across various academic levels, including specialized courses for healthcare professionals. I have developed and delivered diverse courses, combining theory lectures, practical training, group discussions, and one-on-one supervision for over 200 hours. My teaching portfolio includes subjects such as genome biology, genetics of complex disorders, brain development, and perinatology. I have also co-coordinated and co-organized Ph.D.-level courses, such as Medical Developmental Biology, Brain Development, and Neurodevelopmental Disorders.

    In addition to classroom teaching, I have supervised numerous thesis projects and served as an examiner for Master's programs, providing comprehensive evaluations and feedback to students. As described under my research independence and research group, I have or am supervising several Ph.D. students and undergraduate students. Additionally, I have supervised more than 15 master's and bachelor's students who have defended a thesis.

Articles

All other publications

Grants

  • Swedish Research Council
    1 January 2026 - 31 December 2029
    In eukaryotic cells, ~50% of the nucleus is filled with proteins and RNAs, many of which are closely associated with DNA. In exciting preliminary work, we discovered a new class of nuclear RNAs that form genome-wide, long-range contacts with DNA and mainly consist of intronic sequences. During neurodifferentiation, these trans-contacting intronic RNAs (TIRs) are produced from very long, neuronally expressed, protein-coding genes enriched in risk loci for neurodevelopmental disorders (NDDs). TIRs form an intricate localization pattern in the nucleus, which we hypothesize is critical for shaping the local and global 3D genome structure, as well as for coordinating gene expression in brain cells. Here, we tackle this hypothesis by first charting TIRs in neurons/glial cells differentiated from hESCs/iPSCs either from healthy donors or NDD subjects (Aim1). We then pioneer MARINDA for simultaneous all-way profiling of DNA and RNA contacts in single cells and apply it to reconstruct the 3D DNA-DNA, RNA-DNA, and RNA-RNA connectome in mouse brain cells (Aim2). Finally, we combine antisense oligonucleotide and genetic engineering techniques to silence selected TIRs or re-localize them within the nucleus and then measure the effects of these perturbations at the genetic, epigenetic, and phenotypic level in neurons (Aim 3). This project has the potential to establish a new fundamental role of nuclear RNAs in neurobiology and uncover new pathomechanisms for NDDs.
  • Swedish Research Council
    1 December 2025 - 31 December 2029
    Recent evidence shows that autistic people are at risk of severe and complex constellations of mental illness on a scale greater than previously known. Many develop at least two chronic psychiatric conditions by age 30. This psychiatric multimorbidity leads to high rates of psychotropic polypharmacy, increasing the risk of adverse health effects. However, evidence concerning psychiatric multimorbidity and polypharmacy in autistic people is scarce. We aim to investigate these outcomes in autistic people, mapping their risk factors, interplay with one another, and their association with subsequent health outcomes. Given the volume of diagnostic data required, registry data in Sweden offers the only feasible way to address these aims. Using synergistic methods, we will address three aims. First, we will triangulate novel genetically informative designs to identify genetic and non-genetic risk factors. Second, we will harness longitudinal data on mental health and prescriptions to explore the dynamic interplay of psychiatric multimorbidity and polypharmacy. Third, utilizing long-term follow-up in Swedish registers, we will explore their separate and combined impact on health outcomes, such as mortality. By providing methodologically rigorous new evidence on psychiatric multimorbidity and polypharmacy in autistic people, we will shift psychiatric research towards a more integrated approach to autistic people’s mental health, leading to improved care and outcomes.
  • Swedish Research Council for Health Working Life and Welfare
    1 January 2025 - 31 December 2025
  • Swedish Research Council
    1 January 2024 - 31 December 2026
    Preterm birth occurs in 6-12% of pregnancies globally. Intensive care of preterm infants has made major advance over the last decades resulting in dramatically increased survival rates for the most immature infants and a whole new generation of children entering school. While incidence of cerebral palsy decrease, the incidence of neurodevelopmental disorders including intellectual dysfunction, ADHD and autism spectrum disorder now increase and risks are related to immaturity at birth. In children born before 28 weeks´ gestation, two thirds eventually have neurodevelopmental impairments affecting their daily life and academic achievements. To improve outcomes, there is a need for identifying early signs of adverse brain development and to find effective early interventions.The overarching aim is to examine the relations between modifiable perinatal risks, family risk, brain development, neurodevelopment and neurodevelopmental outcomes in children born extremely preterm to improve early prediction and outcomes. In a randomized controlled study, we coach parents to support their preterm born infant´s development in the first year of life and then evaluate neurodevelopmental outcomes. Based on the study results and prediction models we plan to further individualize the intervention.
  • Swedish Research Council
    1 January 2024 - 31 December 2028
    Autism is a neurodevelopmental condition diagnosed in 1-2% of children. Hundreds of genes have been implicated in autism, but a relatively low percentage of autistic individuals have an identifiable single-gene cause for their condition. A combination of other genetic information, such as polygenic risk scores (PRS), is not used in clinical settings yet. Additional investigations are needed to improve the use of genetic information, such as using biological information to improve the genetics scores. Limited information on the effects of high PRS on molecular and cellular phenotypes in neural development. Here, we aim to estimate better how to use biological information such as gene ontology to calculate genetic risk scores from both common and rare variants in autism. We specifically hypothesize that these genetic scores calculated for genes encoding for RNA regulators are associated with co-occurring conditions and severity. Furthermore, we will obtain the multi-omic profiles of neural cells and cerebral organoids generated from induced pluripotent stem cells of carriers with high common RNA regulator PRS and compare these with already available single-gene cellular models. Lastly, we will use genomic and molecular data to identify putative drug targets for subgroups in ASD. Our project will hopefully lead to a better understanding of autism at the genetic and molecular level and improve the use of the data in clinical settings.
  • Swedish Research Council
    1 January 2024 - 31 December 2027
    Autism is a neurodevelopmental condition diagnosed in 1-2% of children. Hundreds of genes have been implicated in autism, but a relatively low percentage of autistic individuals have an identifiable single-gene cause for their condition. A combination of other genetic information, such as polygenic risk scores (PRS), is not used in clinical settings yet. Additional investigations are needed to improve the use of genetic information, such as using biological information to improve the genetics scores. Limited information on the effects of high PRS on molecular and cellular phenotypes in neural development. Here, we aim to estimate better how to use biological information such as gene ontology to calculate genetic risk scores from both common and rare variants in autism. We specifically hypothesize that these genetic scores calculated for genes encoding for RNA regulators are associated with co-occurring conditions and severity. Furthermore, we will obtain the multi-omic profiles of neural cells and cerebral organoids generated from induced pluripotent stem cells of carriers with high common RNA regulator PRS and compare these with already available single-gene cellular models. Lastly, we will use genomic and molecular data to identify putative drug targets for subgroups in ASD. Our project will hopefully lead to a better understanding of autism at the genetic and molecular level and improve the use of the data in clinical settings.
  • Swedish Research Council
    1 January 2024 - 31 December 2026
    ARID1B is the most frequently mutated single gene in neurodevelopmental disorders (NDDs) that are not inherited, with an approximated prevalence of one in 9,500 individuals. ARID1B-related disorder (ARID1B-RD) manifests in early childhood as moderate to severe developmental delay, and children and adults with the disorder have intellectual disability and are often diagnosed with autism alongside many other clinical signs. Despite ARID1B-RD’s high prevalence and extensive debilitating effects, the current understanding of how the disorder develops over time is strikingly limited. The proposed project will address this gap by employing a prospective longitudinal multi-method design. Specifically, we will monitor the development of 135 children and adolescents aged 2-18 with ARID1B-RD for 30 months. Monitoring will involve a) administration of standardized NDD assessments by clinicians complemented by caregivers’ reports
    b) evaluation of biological aspects of ARID1B-RD, and c) collection daily life data via caregivers’ reports, and auditory and activity data using microphones and smartwatches. The project team brings a diverse complementary skills and collaborates with leading patient advocacy organizations. The project will generate a comprehensive picture of the progression of ARID1B-RD. The generated data will allow identifying and validating measurable targets for interventions, thus facilitating the development of effective treatments for thousands of children worldwide.
  • Deutsche Forschungsgemeinschaft
    1 January 2024
    ARID1B is the most frequently mutated single gene among neurodevelopmental disorders (NDDs) that are not inherited, with an approximated prevalence of one in 9,500 individuals. ARID1B-related disorder (ARID1B-RD) manifests in early childhood as moderate to severe developmental delay, and children and adults with the disorder have intellectual disability (ID) and are often diagnosed with autism spectrum disorder along with many other clinical signs. Despite ARID1B-RD’s high prevalence and extensive debilitating effects, the current understanding of how the disorder develops over time is strikingly limited. The proposed project will address this gap by employing a prospective longitudinal multi-method design. Specifically, in six sites, we will monitor the development of 100 children and adolescents aged 2-18 with ARID1B-RD for three years. Monitoring will involve (a) administration of standardized NDD assessments complemented by ARID1B-RD-specific tools
    (b) evaluation of biological aspects of ARID1B-RD (for example, electric brain activity)
    and (c) collection of daily life data via caregivers’ reports, and audio and movement data using smartwatches and microphones. The project team brings a diverse set of complementary skills and collaborates with a leading patient advocacy organization. The project will generate a comprehensive picture of the progression of ARID1B-RD . The data will allow identifying and validating measurable targets for interventions, thus facilitating the development of effective treatments for thousands of children worldwide.
  • Swedish Research Council for Health Working Life and Welfare
    1 January 2022 - 31 December 2025
  • Swedish Research Council
    1 January 2020 - 31 December 2022
  • Swedish Research Council for Health Working Life and Welfare
    1 December 2019 - 30 November 2023
  • Swedish Research Council
    1 January 2018 - 31 December 2020
  • Swedish Research Council
    1 January 2018 - 31 December 2021
  • Swedish Research Council
    1 January 2017 - 31 December 2019
  • Towards Personalized Medicine in Neurodevelopmental Disorder
    Swedish Foundation for Strategic Research
    1 September 2015 - 30 August 2018
  • Swedish Research Council
    1 January 2014 - 31 December 2017
  • Swedish Research Council
    1 July 2012 - 30 June 2015

Employments

  • Senior Lecturer, Neurogenetics, Department of Women's and Children's Health, Karolinska Institutet, 2025-
  • Principal Researcher, Department of Women's and Children's Health, Karolinska Institutet, 2022-2025
  • Researcher, Department of Women's and Children's Health, Karolinska Institutet, 2021-2021
  • Assistant Professor, Department of Women's and Children's Health, Karolinska Institutet, 2017-2020
  • Researcher, Department of Women's and Children's Health, Karolinska Institutet, 2016-2016
  • Postdoctoral Researcher, Department of Women's and Children's Health, Karolinska Institutet, 2012-2015
  • Phd Student, Department of Biosciences and Nutrition, Karolinska Institutet, 2009-2012
  • Research Assistant on Study Grant, Department of Biosciences and Nutrition, Karolinska Institutet, 2008-2009

Degrees and Education

  • Docent, Medical Genetics, Karolinska Institutet, 2021
  • Degree Of Doctor Of Philosophy, Department of Biosciences and Nutrition, Karolinska Institutet, 2011

Leadership and responsibility assignments

  • Director of studies, Director for Doctoral Studies, KBH, Karolinska Institutet, 2024-

Supervision

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