Inborn errors of Endocrinology and Metabolism
Our work aims to identify novel disease genes causing inborn errors of endocrinology and metabolism, and to improve the diagnostics and management for affected families.
Research group leader
Department of Molecular Medicine and Surgery
Karolinska University Hospital, Solna, L7:05
SE-171 76 Stockholm
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.