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 group. 

Research description

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