Muise, Aleixo - University of Toronto - Department of Biochemistry

个人简介

Dr. Aleixo Muise received his B.Sc. from St. Francis Xavier University and then went on to complete a PhD in Biochemistry at Dalhousie University. Dr. Muise completed his MD at the University of Toronto and his Paediatric residency at The Hospital for Sick Children and a Subspecialty Fellowship in the Division of Gastroenterology, Hepatology and Nutrition. He also completed postdoctoral training in the laboratory of Dr. Daniela Rotin.

研究领域

Dr. Muise’s clinical work and laboratory research is focused on understanding the genetic susceptibility and function of identified genes in pathogenesis of Very Early Onset Inflammatory Bowel disease (VEOIBD; diagnosed prior to 6 years of age and infantile disease). This has led to a number of publications from his laboratory describing novel genetic and functional studies in IBD (E-cadherin, RAC1, and PTPRS) and VEOIBD. Most importantly, this genetic analysis has led to curative treatments in a number of Canadian and international VEOIBD patients with IL10R mutations. Furthermore, his work has described a novel form of VEOIBD with severe apoptotic entero-colitis and identified the causative mutations – termed TTC7A-deficiency. His lab has shown that mutations in the TTC7A gene result in the severe phenotype through disruption of PI4K signaling and that the PI4K-TTC7A-EFR3B pathway are critical in development of this disease. They have also identified VEOIBD rare functional variants in the NADPH oxidase genes, iNOS, and IL10R that lead to risk of developing VEOIBD and a hope to identify novel treatment strategies based on these genetic findings. In order to further these studies, Dr. Muise has created the largest repositories of DNA from well phenotyped VEOIBD patients by establishing (a) a clinic at SickKids to ascertain, treat, and follow infants and young children with VEOIBD, and (b) founding the SickKids-based interNational Early Onset Paediatric IBD Cohort Study (NEOPICS; www.NEOPICS.org) consortium. His Canadian and International collaborations with leaders in IBD genetics and immunology have led to a greater understanding of the genetic factors associated with VEOIBD and changed the treatment of these young patients.

近期论文

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Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease. Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM. Nat Commun. 2017 Apr 3;8:14816. doi: 10.1038/ncomms14816. PMID: 28368018 Similar articles Select item 28302725 Ankyrin Repeat and Zinc Finger Domain containing 1 Mutations are associated with Infantile-Onset Inflammatory Bowel Disease. van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EE, Muise AM, Cuppen E, Houwen RH, Coffer PJ. J Biol Chem. 2017 Mar 16. pii: jbc.M116.772038. doi: 10.1074/jbc.M116.772038. [Epub ahead of print] PMID: 28302725 Free Article Similar articles Select item 28082310 Very Early Onset IBD: How Very Different 'on Average'? Turner D, Muise AM. J Crohns Colitis. 2017 Jan 12. pii: jjw217. doi: 10.1093/ecco-jcc/jjw217. [Epub ahead of print] No abstract available. PMID: 28082310 Similar articles Select item 27693323