Inborn errors of Endocrinology and Metabolism

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Our works aims to identify novel disease genes causing inborn errors of endocrinology and metabolism, and to improve diagnostics and management for affected families.

Research group leader

Professor/senior physician

Anna Wedell

Phone: +46-(0)8-517 765 35
Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: Anna.Wedell@ki.se

Department of Molecular Medicine and Surgery
Karolinska Institutet
Karolinska University Hospital, Solna, L8:02
SE-171 76 Stockholm

Research area

Inborn errors of endocrinology and metabolism comprise a large number of rare conditions with a collective incidence of around 1/1,500 newborns. Many disorders are treatable provided that a correct diagnosis can be established in time, and for many diseases novel therapies are being developed. This makes early diagnostics even more important and some of the diseases are included in neonatal screening programs (“PKU tests”). Without treatment, many of the conditions result in early death or severe irreversible handicaps. A major focus is on neurometabolic disorders. Another subgroup is disorders of sex development, where congenital adrenal hyperplasia (CAH) is the single most common disease.

Our work aims to identify novel disease genes causing inborn errors of metabolism and disorders of sex development, and to improve diagnostics and management for affected families. By characterizing the responsible disease genes, diagnostics are improved, the mechanisms behind disease development are elucidated and novel strategies for diagnostics can be developed. At the same time, novel basic biological insights are gained, which have direct relevance also for more common diseases.

Members of the group

Associated

Michela Barbaro

Phone: +46-(0)8-517 739 22
Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: Michela.Barbaro@ki.se

Postdoc

Javier Calvo Garrido

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: javier.calvo.garrido@ki.se

Graduate Student

Martin Engvall

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: martin.engvall@ki.se

Associated

Patrik Georgii-Hemming

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: patrik.georgii-hemming.1@ki.se

Associated

Nicole Lesko

Phone: +46-(0)8-517 714 57
Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: Nicole.Lesko@ki.se

PhD student

Måns Magnusson

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: mans.magnusson@ki.se

Associated

Mikael Oscarson

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: Mikael.Oscarson@ki.se

Associated

Eliane Sardh

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: Eliane.Sardh@ki.se

PhD student

Florian Schober

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: florian.schober@ki.se

Associated

Henrik Stranneheim

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: henrik.stranneheim@ki.se

Research coordinator

Virpi Töhönen

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: Virpi.Tohonen@ki.se

Associated

Rolf Zetterström

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: Rolf.Zetterstrom@ki.se

PhD student

Areti-Elly Daphne Vassiliou

Organizational unit: Inborn errors of Endocrinology and Metabolism
E-mail: Daphne.Vassiliou@ki.se

Links

Genetics