Thomas Müller

Professor
Pediatrics
Innsbruck Medical University
Austria

Professor Pediatrics
Biography

As a Pediatrician I was privileged to encounter children with rare unknown liver and gastrointestinal disorders. In close collaboration with Andreas Janecke and Lukas Huber we further characterize these “new” diseases applying next generation sequencing and cell culture models including organoids derived from hepatic and intestinal stem cells. In the last years we are able to unravel the molecular basis of five congenital enteropathies such as Microvillus inclusion disease and congenital sodium diarrhea.

Research Intrest

Identification and functional characterization of gene defects in patients with rare inborn errors of metabolism

List of Publications
Hagenbuchner J, Rupp M, Salvador C, Meister B, Kiechl-Kohlendorfer U, Müller T, Geiger K, Sergi C, Obexer P, Ausserlechner MJ. Nuclear FOXO3 predicts adverse clinical outcome and promotes tumor angiogenesis in neuroblastoma. Oncotarget. 2016 Nov 22;7(47):77591.
Baumann M, Steichen-Gersdorf E, Krabichler B, Petersen BS, Weber U, Schmidt WM, Zschocke J, Müller T, Bittner RE, Janecke AR. Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation. European Journal of Human Genetics. 2017 Feb 1;25(2):262-6.
Müller T, Rasool I, Heinz-Erian P, Mildenberger E, Hülstrunk C, Müller A, Michaud L, Koot BG, Ballauff A, Vodopiutz J, Rosipal S. Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C. Gut. 2015 May 20:gutjnl-2015.