Tarekegn G. Hiwot

Dr Hiwot initiated and led the development of national and supra-regional services for adult patients with Inherited Metabolic Disorders and Lysosomal Storage Diseases. They are now one of the largest adult metabolic centres in the world with more than 600 patients. His group focuses on the deep phenotyping of rare inherited metabolic disorders to provide the best available care for each patient based on stratification into disease subclasses with a common biological basis. They utilise metabolomics, exome sequencing, novel biomarkers and international patient registries to understand the heterogeneity of diseases caused by a single gene defect. His group’s main disease research area of interest is monogenic metabolic syndrome cause by Alstrom gene mutations to understand better the link between common obesity and insulin resistance. In addition, he has several ongoing research projects on Niemann-Pick, Fabry, Gaucher, Mucopolysaccharidosis and Phenylketonuria.