Ann Nordgren is a professor and senior consultant of Clinical Genetics at the Department of Molecular Medicine and Surgery, KarolinskaUniversity Hospital and Karolinska Institutet.
In her role as group leader of the research group “Rare Diseases” and senior consultant in clinical genetics and expert in syndrome diagnostics including dysmorphology and analysis of whole genome sequencing and other genetic techniques, she has established a clinical and research multidisciplinary expert team for syndrome diagnostics, the Karolinska Undiagnosed Disease Program (Karolinska UDP). Ann is member of the Undiagnosed Disease Network International (UDNI) and part of the IRDIRC Diagnostics Scientific Committeee (DSC).
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Her primary areas of research are rare human intellectual disability syndromes and childhood cancer predisposition and her research team is directed at identifying novel human disease genes, especially genes that predispose to cancer and rare syndromes. She is also studying comorbidities and associated risks in different rare diseases through clinical and registry-based studies.
Ann has a strong commitment to translation of research into clinical genetic services. She is very dedicated to improve the situation for rare disease patients. She has been working as a leader for the Centre for Rare Diseases at Karolinska 2012-2018 and she is currently trying to develop a new clinic, The “Rare Clinic” – a one-stop shop clinic for the diagnosis and treatment of patients with rare syndromes of all ages. The clinic will be highly multidisciplinary with digital solutions and many different activities.