Lukas Alfons Huber - BiographyCurriculum Vitae#

Thanks to my medical background and my international collaborations I was able to make important research contributions to the field of intracellular protein transport and diseases related to misfunctions of it. My laboratory identified the LAMTOR complex and in addition, together with my team and my collaborators, we could identify 5 essential genes in diseases where intracellular transport functions were affected or lysosomal signaling. I have made extensive efforts to translate cell biology into the context of understanding and eventually treating diseases together with clinicians, e.g., the LAMTOR related diseases (Bohn et al., Nat Med 2007, Scheffler et al., Nat Comm 2014, Taub et al., J Cell Sci 2012). Moreover, at the IMP in Vienna we discovered a transcriptional co-regulator named TIS7 (Vietor et al., EMBO J, 2002), which several years later and in a collaboration with Chris Karp’s laboratory turned out to be a novel modifier gene for cystic fibrosis lung disease (Gu et al., Nature, 2009). Another example is the discovery of MYO5B mutations as cause for a fatal enteropathy of infants, originally described by Ernest Cutz in 1978 and named microvillus inclusion disease (Müller et al., Nature Gen, 2008; Ruemmele et al., Human Mutation, 2010). Together with our international network we have recently identified two additional genes: Syntaxin3, causing a variant form of microvillus inclusion disease when mutated (Wiegerink et al., Gastroenterology, 2014, see also Editorial Gastroenterology 2014;147:1–3 and Vogel et al, J Cell Biology, 2015) and very recently also Munc-18 (Vogel et al., J Clinical Invest. Insight 2017). Recently, together with the Ballabio laboratory in Naples, we identified a new substrate-specific mTORC1 pathway in Birt-Hogg-Dubé syndrome (Napolitano et al. Nature, 2020). Several targets identified and validated by us are now in focus of pharmaceutical industry for the development of innovative inhibitors. Presently I am leading a preclinical orphan disease drug development program together with ASCENION, Munich, to bring a new CdK inhibitor against multiple myeloma to “first in men”.