Aleixo Muise | |
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Born | June 5, 1969 |
Nationality | Canadian |
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Aleixo M. Muise FRCPC (born June 5, 1969) is a Canadian scientist, pediatrician and gastroenterologist known for contributions to the understanding of very early onset inflammatory bowel disease. He is a professor of pediatrics at the University of Toronto, a Tier 1 Canada Research Chair in pediatric inflammatory bowel disease, and a pediatric gastroenterologist at the Hospital for Sick Children.
Muise completed a Bachelor of Science degree at St. Francis Xavier University, followed by graduate studies at Carleton University and Dalhousie University. [1] His postgraduate work was with Daniela Rotin at the Hospital for Sick Children in Toronto. [1] He completed undergraduate and postgraduate training in medicine, pediatrics and gastroenterology at the University of Toronto. [1]
Muise was appointed as full professor in the departments of Pediatrics and Biochemistry and in the Institute of Medical Science at the University of Toronto in 2018. [1] He was awarded a Tier 1 Canada Research Chair in pediatric inflammatory bowel disease in 2019. [2]
Muise's clinical and research program focuses on very early onset inflammatory bowel disease (VEOIBD), a type of inflammatory bowel disease that affects children under the age of six. His research program has identified a number of novel genetic determinants in IBD and VEOIBD. Muise's laboratory uses techniques such as whole exome sequencing and whole genome sequencing to identify known and novel genetic variants in children with intestinal diseases. Most notably, Muise identified a novel form of VEOIBD related to mutations in the TTC7A gene [3] and described potential treatments for this incurable disease. [4] He has uncovered the underlying genetic and functional causes of a number of diseases, including PLVAP, ARPC1B and SYK. [5] [6] [7]
Muise's research has allowed for appropriate, personalized treatment to be given to children with genetic forms of intestinal disease, including bone marrow transplantation. [8] [9] Muise's lab has also identified VEOIBD rare functional variants in the NADPH oxidase genes, iNOS, and IL10R that lead to risk of developing VEOIBD, and may allow for novel treatment strategies based on these genetic findings. [10]
Muise founded the interNational Early Onset Paediatric IBD Cohort Study (NEOPICS) consortium, which connects pediatric gastroenterologists and scientists internationally to identify patients with rare intestinal diseases. This has allowed for the creation of the largest repository of DNA of patients with VEOIBD. [11]
Gastroenterology is the branch of medicine focused on the digestive system and its disorders. The digestive system consists of the gastrointestinal tract, sometimes referred to as the GI tract, which includes the esophagus, stomach, small intestine and large intestine as well as the accessory organs of digestion which include the pancreas, gallbladder, and liver.
Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain, diarrhea, fever, abdominal distension, and weight loss. Complications outside of the gastrointestinal tract may include anemia, skin rashes, arthritis, inflammation of the eye, and fatigue. The skin rashes may be due to infections as well as pyoderma gangrenosum or erythema nodosum. Bowel obstruction may occur as a complication of chronic inflammation, and those with the disease are at greater risk of colon cancer and small bowel cancer.
Ulcerative colitis (UC) is one of the two types of inflammatory bowel disease (IBD), with the other type being Crohn's disease. It is a long-term condition that results in inflammation and ulcers of the colon and rectum. The primary symptoms of active disease are abdominal pain and diarrhea mixed with blood (hematochezia). Weight loss, fever, and anemia may also occur. Often, symptoms come on slowly and can range from mild to severe. Symptoms typically occur intermittently with periods of no symptoms between flares. Complications may include abnormal dilation of the colon (megacolon), inflammation of the eye, joints, or liver, and colon cancer.
Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement. Complications from constipation may include hemorrhoids, anal fissure or fecal impaction. The normal frequency of bowel movements in adults is between three per day and three per week. Babies often have three to four bowel movements per day while young children typically have two to three per day.
Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by a group of symptoms that commonly include abdominal pain, abdominal bloating and changes in the consistency of bowel movements. These symptoms may occur over a long time, sometimes for years.Disorders such as anxiety, major depression, and chronic fatigue syndrome are common among people with IBS.
Azathioprine, sold under the brand name Imuran, among others, is an immunosuppressive medication. It is used for the treatment of rheumatoid arthritis, granulomatosis with polyangiitis, Crohn's disease, ulcerative colitis, and systemic lupus erythematosus; and in kidney transplants to prevent rejection. It is listed by the International Agency for Research on Cancer as a group 1 human carcinogen. It is taken by mouth or injected into a vein.
Inflammatory bowel disease (IBD) is a group of inflammatory conditions of the colon and small intestine, with Crohn's disease and ulcerative colitis (UC) being the principal types. Crohn's disease affects the small intestine and large intestine, as well as the mouth, esophagus, stomach and the anus, whereas UC primarily affects the colon and the rectum.
Diverticulitis, also called colonic diverticulitis, is a gastrointestinal disease characterized by inflammation of abnormal pouches—diverticula—that can develop in the wall of the large intestine. Symptoms typically include lower abdominal pain of sudden onset, but the onset may also occur over a few days. There may also be nausea, diarrhea or constipation. Fever or blood in the stool suggests a complication. People may experience a single attack, repeated attacks, or ongoing "smouldering" diverticulitis.
Functional gastrointestinal disorders (FGID), also known as disorders of gut–brain interaction, include a number of separate idiopathic disorders which affect different parts of the gastrointestinal tract and involve visceral hypersensitivity and motility disturbances.
Eosinophilic esophagitis (EoE) is an allergic inflammatory condition of the esophagus that involves eosinophils, a type of white blood cell. In healthy individuals, the esophagus is typically devoid of eosinophils. In EoE, eosinophils migrate to the esophagus in large numbers. When a trigger food is eaten, the eosinophils contribute to tissue damage and inflammation. Symptoms include swallowing difficulty, food impaction, vomiting, and heartburn.
The interleukin-23 receptor is a type I cytokine receptor. It is encoded in human by the IL23R gene. In complex with the interleukin-12 receptor β1 subunit (IL-12Rβ1), it is activated by the cytokine interleukin 23 (IL-23). The IL23R mRNA is 2.8 kilobases in length and includes 12 exons. The translated protein contains 629 amino acids; it is a type I penetrating protein and includes a signal peptide, an N-terminal fibronectin III-like domain and an intracellular part that contains three potential tyrosine phosphorylation domains. There are 24 IL23R splice variants in mitogen-activated lymphocytes. IL23R includes some single-nucleotide polymorphisms in the region encoding the domain that binds IL-23, which may lead to differences between people in Th17 activation. There is also a variant of IL-23R that consists of just the extracellular part and is known as soluble IL-23R. This form can compete with the membrane-bound form to bind IL-23, modulating the Th17 immune response and regulation of inflammation and immune function.
Faecal calprotectin is a biochemical measurement of the protein calprotectin in the stool. Elevated faecal calprotectin indicates the migration of neutrophils to the intestinal mucosa, which occurs during intestinal inflammation, including inflammation caused by inflammatory bowel disease. Under a specific clinical scenario, the test may eliminate the need for invasive colonoscopy or radio-labelled white cell scanning.
The Center for Applied Genomics is a research center at the Children's Hospital of Philadelphia that focuses on genomics research and the utilization of basic research findings in the development of new medical treatments.
Immunity-related GTPase family M protein (IRGM), also known as interferon-inducible protein 1 (IFI1), is an enzyme that in humans is encoded by the IRGM gene.
HORMA domain containing 2 is a protein that in humans is encoded by the HORMAD2 gene.
Tetratricopeptide repeat domain 7A (TTC7A) is a protein that in humans is encoded by the TTC7A gene.
Pediatric gastroenterology developed as a sub-specialty of pediatrics and gastroenterology. It is concerned with treating the gastrointestinal tract, liver and pancreas of children from infancy until age eighteen. The principal diseases it is concerned with are acute diarrhea, persistent vomiting, gastritis, and problems with the development of the gastric tract.
Serum-derived bovine immunoglobulin/protein isolate (SBI) is a medical food product derived from bovine serum obtained from adult cows in the United States. It is sold under the name EnteraGam.
Very early onset inflammatory bowel disease (VEOIBD) is a type of IBD which starts in people younger than 6 years of age. According to age we can distinguish more specifically two categories within the VEOIBD diagnosis - neonatal IBD and infantile IBD.
Ken Croitoru is a Canadian gastroenterologist who works at Mount Sinai Hospital in Toronto, a scientist at the Lunenfeld-Tanenbaum Research Institute, and a professor in the Department of Medicine at the University of Toronto. He is best known for his leadership of the Genetic, Environmental, Microbial (GEM) Project, a comprehensive research initiative aiming to understand the triggers of Crohn's disease.