Aleixo M. Muise (born June 5, 1969) is a Canadian scientist, pediatrician and gastroenterologist known for contributions to the understanding of very early onset

inflammatory bowel disease Inflammatory bowel disease (IBD) is a group of inflammatory conditions of the colon and small intestine, Crohn's disease and ulcerative colitis being the principal types. Crohn's disease affects the small intestine and large intestine, as wel ...

. He is a professor of pediatrics at the

University of Toronto The University of Toronto (UToronto or U of T) is a public research university in Toronto, Ontario, Canada, located on the grounds that surround Queen's Park. It was founded by royal charter in 1827 as King's College, the first institu ...

, a Tier 1

Canada Research Chair Canada Research Chair (CRC) is a title given to certain Canadian university research professors by the Canada Research Chairs Program. Program goals The Canada Research Chair program was established in 2000 as a part of the Government of Canada ...

in pediatric inflammatory bowel disease, and a pediatric gastroenterologist at the Hospital for Sick Children.

Biography

Muise completed a Bachelor of Science degree at

St. Francis Xavier University St. Francis Xavier University is a public undergraduate liberal arts university located in Antigonish, Nova Scotia, Canada. It is a member of the Maple League, a group of primarily undergraduate universities in Eastern Canada. History St. Fra ...

, followed by graduate studies at

Carleton University Carleton University is an English-language public research university in Ottawa, Ontario, Canada. Founded in 1942 as Carleton College, the institution originally operated as a private, non-denominational evening college to serve returning Worl ...

and

Dalhousie University Dalhousie University (commonly known as Dal) is a large public research university in Nova Scotia, Canada, with three campuses in Halifax, a fourth in Bible Hill, and a second medical school campus in Saint John, New Brunswick. Dalhousie offer ...

. His postgraduate work was with Daniela Rotin at the Hospital for Sick Children in

Toronto Toronto ( ; or ) is the capital city of the Provinces and territories of Canada, Canadian province of Ontario. With a recorded population of 2,794,356 in 2021, it is the List of the largest municipalities in Canada by population, most pop ...

. He completed undergraduate and postgraduate training in medicine, pediatrics and gastroenterology at the

. 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. He was awarded a Tier 1

in pediatric

in 2019.

Research

Muise's clinical and research program focuses on

very early onset inflammatory bowel disease 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 (patients ...

(VEOIBD), a type of

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 Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset ...

and

whole genome sequencing Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a ...

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 Tetratricopeptide repeat domain 7A (TTC7A) is a protein that in humans is encoded by the ''TTC7A'' gene. Function TPR domain-containing proteins, such as TTC7A, have diverse functions in cell cycle control, protein transport, phosphate turnove ...

gene and described potential treatments for this incurable disease. He has uncovered the underlying genetic and functional causes of a number of diseases, including

PLVAP Plasmalemma vesicle-associated protein is a protein that in humans is encoded by the ''PLVAP'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''ge ...

ARPC1B Actin-related protein 2/3 complex subunit 1B is a protein that in humans is encoded by the ''ARPC1B'' gene. Function This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of pr ...

and

SYK Tyrosine-protein kinase SYK, also known as spleen tyrosine kinase, is an enzyme which in humans is encoded by the ''SYK'' gene. Function SYK, along with ZAP70, is a member of the Syk family of tyrosine kinases. These cytoplasmic non-receptor ty ...

. Muise's research has allowed for appropriate, personalized treatment to be given to children with genetic forms of intestinal disease, including

bone marrow transplantation Hematopoietic stem-cell transplantation (HSCT) is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood in order to replicate inside of a patient and to produ ...

. Muise's lab has also identified VEOIBD rare functional variants in the

NADPH oxidase NADPH oxidase (nicotinamide adenine dinucleotide phosphate oxidase) is a membrane-bound enzyme complex that faces the extracellular space. It can be found in the plasma membrane as well as in the membranes of phagosomes used by neutrophil white ...

genes,

iNOS Nitric oxide synthases () (NOSs) are a family of enzymes catalyzing the production of nitric oxide (NO) from L-arginine. NO is an important cellular signaling molecule. It helps modulate vascular tone, insulin secretion, airway tone, and peris ...

, and IL10R that lead to risk of developing VEOIBD, and may allow for novel treatment strategies based on these genetic findings. 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.

Honors

in Pediatric Inflammatory Bowel Disease (Tier 1),

Canadian Institutes of Health Research The Canadian Institutes of Health Research (CIHR; french: Instituts de recherche en santé du Canada; IRSC) is a federal agency responsible for funding health and medical research in Canada. Comprising 13 institutes, it is the successor to the M ...

(CIHR), Government of Canada, 2019 *Young Investigator in Basic Science,

American Gastroenterological Association The American Gastroenterological Association (AGA) is a medical association of gastroenterologists. Approximately 16,000 scientists and physicians are members of the organization. Overview The American Gastroenterological Association is a profe ...

/Gastroenterology Research Group, 2015

References

{{DEFAULTSORT:Muise, Aleixo 1969 births Canadian medical researchers Academic staff of the University of Toronto Living people Canada Research Chairs