Ann Nordgren

Ann Nordgren

Adjunct Professor | Docent
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

About me

  • Ann Nordgren presently serve as Adjunct Professor of Clinical Genetics at
    Karolinska Institutet and senior consultant and Project Manager at the
    Karolinska Center for Rare Diseases (KCRD) at Clinical genetics, Karolinska
    University hospital. Currently, Ann Nordgren is a Swedish board certified
    specialist in Clinical Genetics since 2002. Her clinical work is mainly
    focused on genetic counceling, syndrome diagnostics and childhood cancer
    diagnostics using detailed phenotyping as well as molecular, cytogenetic and
    massive parallell sequencing techniques. In 2012 Ann Nordgren started a
    clinical and research multidisciplinary expert team for syndrome
    diagnostics. and this team is now going to be part of the
    international Undiagnosed Diseases Program (UDP). She is also leading a
    national collaborative work to create a national quality registry for rare
    diseases. Ann Nordgren has a 6-year research position financed by the
    Swedish Childhood Cancer foundation.
    Her position as researcher and project leader of KCRD has led to fruitful
    collaborations with patients, patient organisations, politicians, European
    Commission, The National Board of Health and Welfare, healthcare
    professionals, orphan drug industry. She is a board member of Ågrenska and
    a deputie in the Nordic Network for Rare Diseases, commissioned by the Nordic
    Council as well as board member of Ågrenska AB, Sällsyntafonden, the
    Swedish Pediatric Genetics Association, and the International Conference of
    Rare Diseases and Orphan Drugs (ICORD). She is also a member of the IRDIRC
    Diagnostics Scientific Committee and member of the Undiagnosed Diseases
    Network (UDNI), member of the research grant prioritization committee at The
    Swedish Cancer Society and the Swedish coordinator of a European Reference
    Network (ERN) for Congenital malformations and Intellectual Disability as
    well as national coordinator for the Nordic childhood cancer etiology


  • Her research is directed at identifying novel human disease genes, especially
    genes that predispose to rare intellectual disability and malformation
    syndromes, overgrowth and cancer. She studies clinical phenotypes in
    different syndromes and looks for constitutional genetic aberrations in
    patients with syndromes and cancer and in families with more than one
    affected first or second degree relative who developed cancer in childhood.
    She performs genetic studies as well as careful clinical phenotyping and
    registry-based studies. This approach has been very rewarding and in her
    recent activity her research team has identified a number of novel syndromes
    and disease-causing genes


All other publications



  • Adjunct Professor, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2019-2027

Degrees and Education

  • Docent, Karolinska Institutet, 2010
  • Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2001


  • Emeli Pontén, 2018
  • Carolina Maya Gonzalez
  • Benedicte Bang
  • Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases

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