CIHR Projects
Browse 1905 CIHR-funded research projects
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PI: Chang, Natasha C
Duchenne muscular dystrophy (DMD) is a devastating and debilitating muscle degenerative disease affecting 1 in every 5,000 male births in Canada. DMD symptoms manifest in early childhood, as boys bet…
Subretinal injection (SI) of gene or cell therapy is a challenging surgical intervention aiming to restore and/or preserve the vision of patients suffering from retinal degenerative diseases. To perf…
To know the molecular basis of disease is a daunting challenge. Knowing requires understanding of the processes that control how cells maintain, organize, and propagate their DNA complement - their g…
PI: Francis, Nicole
A human body is composed of a multitude of cell types that are organized into tissues, organs, and physiological systems. The genome, composed of DNA, is the blueprint for all cells. Different types …
PI: Roy, Richard D
Stem cells are very important for the growth and maintenance of a number of our tissues. Curiously, they do not like to divide and only do so when signals instruct them to repair damage or, for whate…
Cells are surrounded by a cell membrane, a complex barrier made primarily of lipids and proteins. Human cells also have internal structures (organelles) with such barriers. An early concept of a cell…
Scientists have sequenced many human genomes, revealing extensive differences between individuals. Yet, for the most part, we do not know how to use this information about genome variation to predict…
PI: Boone, Charles M
Genome sequencing has provided an unprecedented view into the extent of human genetic variation. However, our ability to understand and interpret this genetic information remains rudimentary. This kn…
PI: Patten, Kessen
CHARGE syndrome (CS) is a rare genetic disorder affecting about 1 in 10,000 newborns. It is caused by mutations in the CHD7 gene and is associated with neurodevelopmental disorders such as intellectu…
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The COVID-19 outbreak has highlighted the need for genomic data standards in order to enable the rapid sharing of high quality genomic and health data. Researchers have shared viral and host sequence…
PI: Meier, Sandra M
The 22q11.2 deletion syndrome (22q11DS) is thought to be the most common microdeletion syndrome, with 1 out of 4,000 children having this condition. The health problems (i.e., cardiac defects, immune…
The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine
PI: Bombard, Yvonne; Hayeems, Robin Z
Genome-wide sequencing (GS) is increasingly being used in routine medical care as it improves diagnosis and informs treatment. However, GS is a complex and costly service. This results in unequal acc…
Inside each of our cells are a number of specialized compartments called organelles that perform different tasks. These compartments are not simply floating around, but are linked together at "membra…
PI: Slim, Rima
Reproductive failure manifests as infertility, recurrent miscarriages and molar pregnancies (pregnancies with no embryos). These conditions affect up to 10% of couples. Little is known about genes re…
PI: Patten, Kessen
Genetic studies to identify the cause of neurodevelopmental disorders have increasingly implicated several chromatin remodelling factors among other genes. Mutations in one such gene - chromodomain, …
PI: Bombard, Yvonne; Sun, Sophie; Etchegary, Holly; Schrader, Kasmintan A
Patients at risk for a hereditary cancer syndrome (HCS) require complex care over a lifetime. HCS care across Canada is fragmented due to variation in access to genetic testing and high risk follow u…
PI: Warman Chardon, Jodi; Korngut, Lawrence W; LochmĂĽller, Hanns; Thavorn, Kednapa
Genetic neuromuscular diseases (NMDs) affect 70,000 Canadians and can cause severe weakness, muscle wasting and premature death. New treatments are emerging from clinical trials and persons with NMDs…
Cystic Fibrosis (CF) is a fatal genetic disease affecting more than 4,300 Canadians. There is no cure. CF is a debilitating disease affecting the whole body and impacts not only the person with CF bu…
Our bodies are sophisticated structures composed of trillions of cells. To build them, a single cell (the zygote) has to undergo billions of cell divisions, each of them requiring the duplication of …
Our proposal focuses on understanding Kabuki syndrome, a genetic condition characterized by specific facial features, intellectual disability and growth deficiency. Kabuki syndrome occurs due to a ch…
Mutations in the ATRX gene cause intellectual disability in children, meaning that they have difficulties in learning and memorizing facts or events. The ATRX protein that is produced from this gene …
All cells in the body require chemical energy to carry out their normal physiological functions. The majority of this energy is packaged as a compound called ATP and is produced by the oxidation of c…
PI: Pigeyre, Marie
More than two hundred thousand people suffer from heart attack or stroke every year in Canada. This number continues to grow despite drug developments to treat diabetes, hypertension, high cholestero…
PI: Affar, El Bachir
The proteasome is a tiny machine that exist in all living cells. This machine is responsible for the timely degradation of unwanted proteins, malformed proteins or proteins in surplus. This process i…
The RAS superfamily is composed of nearly 150 proteins divided into RAS, RHO, ARF and RAB. The ARF family is composed of 30 proteins and approximately 42 regulators involved in basic cellular functio…
PI: Ivakine, Evgueni
As we enter an age where we understand more about genetic disease we are beginning to regularly implement genome sequencing and personalized medicine in clinical practice. These efforts are hampered …
PI: Hui, Chi-Chung
Obesity, which will be affecting a third of global population in 2025, is a major health problem with increased risk for various chronic diseases. Recent studies from my lab identified the IRX3 and I…
Dissecting ancient aCNE-mediated GATA factor regulatory networks: from heart development to disease
PI: Scott, Ian C; Wilson, Michael D
Congenital heart defects occur in close to 1% of live births, with heart abnormalities having a severe impact on the health and mortality of children. Like most genetic diseases, well over half of co…
PI: Van Raamsdonk, Catherine D
Metastasis is the dissemination of cancer cells from their birthplace in the body to distant organs. As it turns out, this is an inefficient process. Of the millions of cells in the primary tumor, on…
High density lipoproteins are called "good cholesterol" because high levels of HDL in blood protect against heart disease. This protection is partly due to the ability of HDL to prevent the accumulat…
PI: Yachie, Nozomu
The dynamic behavior of cells during development, tumorigenesis and other disorders remain largely unclear. The genomic DNA of a cell stores the blueprint of life in sequences that can be represented…
Biology has entered a new era of precision measurement. Techniques like single-cell RNA sequencing (scRNA-seq) and single cell ATAC-seq have emerged as powerful tools to sample the complexity of larg…
PI: Turvey, Stuart E; Biggs, Catherine M
Nearly 1-in-3 Canadians suffer from an allergic disease, such as asthma, food allergy and eczema. Globally, asthma alone affects an estimated 300 million people, with annual costs over $20 billion do…
PI: Barr, Cathy L
Psychiatric disorders are major health problem that can severely impact affected individuals' quality of life. The majority of associated DNA variants found through genetic studies of psychiatric dis…
PI: Smith, Matthew J
Abnormal changes to the genetic material of various cell types in the human body can lead to cancer, or more specifically the uncontrolled proliferation of cells. When this occurs, the affected genes…
PI: Sicheri, Frank
This proposal is focused on understanding how two members of the Eukaryotic Protein Kinase superfamily called Bud32 and Aurora A (AURKA) function to maintain the well-being of cells and organisms. Pr…
Sumoylation is the process by which specific proteins in eukaryotic cells become modified through attachment of the SUMO peptide, which has various possible effects on the functions of the targeted p…
PI: Babu, Mohan; Siqueira, Walter L
SARS-CoV-2 (the causative agent of COVID-19) poses a generational threat, with no licensed vaccines or effective therapies to date. Further, the scarcity in reliable diagnostics, especially when test…
PI: Joy, Jeffrey
Emergence of the 2019 coronavirus (SARS-CoV-2) has highlighted the severe impact emerging zoonotic pathogens have on human health, the global economy, and health service delivery. Phylogenetic analys…
PI: Schöck, Frieder
Muscles contain a highly regular, subcellular assembly of proteins that enable contractility. These huge molecular machines are called myofibrils and we aim to understand how they are built during de…
PI: Sidhu, Sachdev S
The outbreak of a respiratory illness (COVID-19) in China at the end of December 2019 has been demonstrated to be caused by a new coronavirus. While health officials are using quarantine methods to t…
PI: Long, Quan; van Marle, Guido
The ongoing COVID-19 pandemic is believed to be significantly influenced by asymptomatic SARS-CoV-2 patients. Understanding the role that asymptomatic patients play in the spread of the disease is vi…
PI: Babu, Mohan; Siqueira, Walter L
SARS-CoV-2 (the causative agent of COVID-19) poses a generational threat, with no licensed vaccines or effective therapies to date. Further, the scarcity in reliable diagnostics, especially when test…
One potent mechanism of gene regulation is mediated through small RNA pathways. Small RNA pathways are found across all three kingdoms of life, and at the core of these pathways are the conserved fam…
PI: Chang, Natasha C
Duchenne muscular dystrophy (DMD) is a devastating and debilitating muscle degenerative disease affecting 1 in every 3,500 male births worldwide. DMD symptoms manifest in early childhood, as boys bet…
PI: Parks, Robin J
Spinal muscular atrophy (SMA) is a devastating disorder primarily affecting newborns and young children. It is caused by reduced levels of the survival motor neuron (SMN) protein. Although normally p…
PI: Haas, Kurt
The coronavirus causing the COVID-19 pandemic infects by binding to a receptor called ACE2 on the surface of cells lining the lung. One reason for the virulence of this new virus is the strength of i…
Cisplatin is a chemotherapeutic which is used in the treatment of several cancers. Unfortunately, this cancer treatment also causes severe and debilitating adverse drug reactions such as hearing loss…
PI: Nami, Babak
The immune system protects the body against infectious diseases, as well as inherent diseases such as cancer. The immune system is the first line of defense charged to eliminate cancer cells from the…