CIHR Projects
Browse 1905 CIHR-funded research projects
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PI: Sadikovic, Bekim
Mitochondrial disorders (MD) are a genetically diverse group of individually rare, but severe human diseases for which no causal treatments are available. The GENOMIT consortium assembles the nationa…
PI: Singh, Karun
Genetic changes affecting the copy number of chromosome 15q13.3 have been linked to a group of rare neurodevelopmental conditions including developmental delay, intellectual disability, autism spectr…
PI: Wright, Nicola A; Cuvelier, Geoff; Grunebaum, Eyal; Guilcher, Greg; Kohn, Donald B; Lewis, Victor; Marwaha, Ashish K; Murguia-Favela, Luis E; Narendran, Aru; Prokopishyn, Nicole L; Romero Garcia, Zulema; Suresh, Sneha
Gene therapies are a novel cure for rare genetic disorders. Currently, Canadian patients with inherited immune disorders eligible for gene therapies must travel to other countries for treatment, wher…
PI: Hieter, Philip A; Boycott, Kym M; Campeau, Philippe M
Thousands of rare genetic diseases (RDs) affect one million Canadians, mostly children; RDs cause significant disability, lead to early death, and only a handful have a targeted treatment. We can now…
PI: Pilon, Nicolas
Neurocristopathies form a group of rare genetic diseases that result from problems with neural crest cells - a specific type of stem cells that contribute diverse specialized cells in various organs.…
PI: Rouleau, Guy A; Kharma, Nawwaf; Perreault, Jonathan
Over 40 diseases, including incurable and fatal neurodegenerative diseases such as ALS, are caused by the expansion of repetitive sequences in the genome. Beyond a certain size, these expansions caus…
PI: Pastor, William A; Bouchard, Maxime L
During development, genes have to be activated and silenced at precise times and places in order for an embryo to make all of the right tissues and survive. This is done in part by DNA methylation, w…
Coordination of actomyosin and anillo-septin sub-networks of the contractile ring during cytokinesis
Every second, many millions of cells in our bodies divide. Cell division is essential to maintain the health of our tissues and organs. Should a cell fail in its division attempt this could lead to c…
PI: Bouvier, Michel
Adequate communication between cells is essential for the proper functioning of multicellular organisms. Diffusible signaling molecules and receptors that recognize these molecules at the surface of …
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 …
PI: Birol, Inanc
Over the last two decades, technology advances have made DNA sequencing a routine and cost-effective method in many fields of life sciences research. New sequencing technologies are generating more a…
PI: Stagljar, Igor
ABC transporters are a large family of integral membrane proteins critical to proper cell function. They also play key roles in a variety of human diseases, including drug resistance in many cancers,…
Mutations in the gene FMR1 lead to disorders that are associated with intellectual and reproductive impairment. This includes fragile X syndrome, which is the most common cause of autism. The FMR1 ge…
PI: Bremner, Rod
Acute Myeloid Leukemia (AML) typically responds well to initial therapies, but relapse is common due to drug resistance. AML cells in the circulating blood are usually cleared well, but resistant cel…
A typical mammalian gene specifying protein synthesis is divided into coding and non-coding segments, referred to as exons and introns, respectively. When genes are transcribed into precursor messeng…
PI: Côté, Jacques
All cells in a multicellular organism contain the same genetic material. Despite this fact, different cell types must carry out different functions. How each cell expresses the required proteins at t…
Huntington's disease (HD) is caused by mutations in repeated DNAs. If one considers a gene as though it were a sentence such as THE CAT ATE THE FAT RAT, typical mutations would be spelling errors, li…
Cell division is a fundamental process for all living organisms on Earth, and its dysregulation can lead to developmental abnormalities (for instance trisomies) or disease (such as cancer). The last …
The heritability of complex traits, including disease, is governed by a complex interplay of many genetic variants. This project will produce unique datasets and tools that will reveal how groups of …
PI: Vocadlo, David
Despite extensive efforts, there is only one clinically approved small molecule therapeutic that can slow the progression of any neurodegenerative disease. This compound is known as miglustat, and it…
To date, approximately 7,000 rare genetic diseases have been identified, which affect 1 in 12 or nearly 3 million Canadians combined. Artificial small DNA-like molecules called antisense oligonucleot…
Monitoring RNA structural dynamics from transcription to gene regulation, one molecule at the time
It has been reported by the Encyclopedia of DNA Elements (ENCODE) and the Functional Annotation of Mouse (FANTOM) consortiums that coding transcripts represent less than 3% of the total genome. These…
PI: Leavitt, Blair R
Brain disease is a leading cause of death and disability in the Canadian population representing an immense economic and societal burden. Most brain diseases have no cure, progressively decrease qual…
PI: Bombard, Yvonne
Cancer screening of high-risk populations for predisposition genes (e.g., breast cancer and BRCA1/2) is critical for early detection, cancer prevention and genetic testing for at-risk relatives. Yet,…
RNase enzymes are part of the cellular defenses against viral infection, digesting RNA from invading viruses. Some viruses evade RNases by partially blocking digestion so that the RNases produce vira…
PI: Childs, Sarah J
The smallest vessels of brain supply just the right amount of blood to feed and remove waste from neurons and regulate blood flow supporting cognitive activity. It is no surprise then that Cerebral S…
PI: Fraser, Andrew G
Metabolism is at the heart of biology. Our bodies need many different small molecules like sugars, amino acids, and vitamins to maintain our tissues and we use drugs to fix health problems. Measuring…
PI: Scott, Michelle
While many genes coding for proteins have been extensively studied, the role of noncoding RNA (ncRNA) genes is less well-understood. Unlike coding genes, ncRNA genes do not code for proteins but prod…
Duchenne muscular dystrophy (DMD) is a devastating inherited disease that causes severe muscle weakness and eventually death normally in the second decade of life. We have made the surprising discove…
PI: Singh, Karun
The 15q13.3 deletion is a neurodevelopmental disorder (NDD) that manifests early during postnatal life and is associated with epilepsy, schizophrenia, autism spectrum disorder and developmental delay…
While all cells within an individual organism contain nearly identical DNA, each cell type and tissue has distinct properties. Those properties are determined by a number of "epigenetic" modification…
PI: Shakiba, Nika; Goyal, Sidhartha
Human pluripotent stem cells (hPSCs) have the special ability to "expand" - make copies of themselves - and give rise to all cell types of the body. Since their discovery over 20 years ago, hPSCs hav…
PI: Blais, Alexandre
The repair of skeletal muscle after injury depends on the function of undifferentiated muscle precursor cells called satellite cells. Satellite cells are undifferentiated and deeply quiescent in heal…
Role for defective enhancer commissioning in the hypotonia phenotype of Kabuki Syndrome patients
PI: Dilworth, F J
This research project that uses genetic mouse models of the epigenetic enzymes MLL4 and UTX to determine how mutations in these genes give rise to muscle weakness (hypotonia) in children with Kabuki …
PI: Crist, Colin
Regenerative medicine is a branch of translational research aiming to replace, engineer or regenerate human cells, tissues and organs to re-establish normal function. Since this entire process occurs…
A hallmark feature of eukaryotic cells is the separation of nuclear and cytoplasmic compartments by the nuclear membrane. The bidirectional transfer of macromolecules between these compartments occur…
PI: Kramer, James M
CanFly began more than thirty years ago in 1991, when the relatively small number of laboratories in Canada at the time that used Drosophila as a model system got together at the Kananaskis Field Sta…
PI: Hirst, Martin
The DNA that makes up the genome (the collection of all the DNA in your cell) is tagged with various chemical marks that are attached either directly to the DNA or to its packaging proteins. These ma…
PI: Bourque, Guillaume; Hirst, Martin
The DNA that makes up the genome is tagged with various chemical marks that are attached either directly to the DNA or to its packaging proteins. These marks, collectively called the epigenome, act a…
PI: Hussein, Samer M
Chacune des cellules de notre corps effectue des fonctions précises. Afin de vivre en harmonie, les cellules communiquent entre elles à l'aide de réseaux de signalisation intracellulaires. Ainsi, nos…
PI: Langlois, Alec
The human liver houses many enzymes, proteins which can convert one compound to another. CYP2A6 is the enzyme responsible for metabolically inactivating nicotine; nicotine is the component of cigaret…
PI: Ciruna, Brian G
This proposal seeks support for the 17th International Zebrafish Conference, which is to be held for the first time in Canada, at the beautiful Centre Mont-Royal in the heart of Montreal, Quebec. The…
Many cells in our bodies rely on electrical signals. This includes neurons, but also heart muscle and skeletal muscle cells. These cells are surrounded by a membrane, which forms a physical barrier f…
PI: Laprise, Catherine; Girard, Simon
Asthma is a chronic respiratory disease afflicting patients of all ages, sexes, genders, and socioeconomic levels causing significant morbidity and mortality; consequently, generating substantial cos…
23rd RiboClub Annual Meeting
PI: Scott, Michelle
Known for many decades as an intermediary between the genetic information encoded in DNA and the proteins considered to be the main cellular effector molecules, RNA is now characterized as having a w…
PI: Chelico, Linda
The RNA Editing Gordon Research Conference (GRC), started in 1997 and occurring bi-annually, has grown into the main international meeting dedicated to RNA and DNA modifications. While the conference…
The Silent Genomes Project aims to increase access to state-of-the-art whole genome sequencing for Indigenous families with undiagnosed genetic conditions, in a culturally safe way. Currently, only ~…
PI: Schurr, Erwin A
Recent large cohort studies have identified HIV infection as strong risk factor for severe COVID- 19. Importantly, even PLWH with low or undetectable HIV load and reconstituted CD4+ T-cell immunity s…
PI: Wang, Li Qing
Pre-eclampsia (PE) is a pregnancy complication characterized by high blood pressure and protein in the urine. It is a leading cause of maternal morbidity and mortality world-wide, and there are over …
PI: Jeffers, Kevin R
In Canada, more than 1 in 500 people are affected by Parkinson's and similar movement disorders, such as ataxia. Mutations in the four human versions of vacuolar protein sorting 13 (VPS13) cause dist…