Ann Nordgren

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.

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 195 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.

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.