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Opened project
Project leader: Jo Anne Stratton
Contest: Commercialization Priming (in partnership with McGill D2R)
Sector: Health
Budget: 100 000,00 $

Start date: 01 January 2025 End date: 31 December 2025

Co-Investigator(s): Roberta La Piana (McGill University), Thomas Durcan (McGill University)Collaborator(s): Martin Sauvageau (IRCM) ALSP (Adult Leukoencephalopathy with axonal Spheroids and Pigmented glia) is a genetic disorder caused by mutations in a gene important for immune cell function, especially important for immune cells in the brain, called microglia. When this gene is not working properly patients have motor and cognitive dysfunction leading to death within 6-7 years of diagnosis. It is clear that microglial activation in(...)
Opened project
Project leader: Paul Goodyer
Contest: Commercialization Priming (in partnership with McGill D2R)
Sector: Health
Budget: 100 000,00 $

Start date: 01 January 2025 End date: 31 December 2025

Co-Investigator(s): Elena Torban (Research Institute of the McGill University Health Centre) Cystinosis is a rare autosomal recessive disease caused by mutations of the CTNS gene. Without this gene, infants develop failure to thrive, progressive kidney failure and gradual deterioration of other organs. Our project will show that a stabilized CTNS mRNA in a new lipid nanoparticle (LNP) forumlation can prevent deterioration of the kidneys, when delivered early in life to our Ctns-mutant mice and can(...)
Opened project
Project leader: Sandra Isabel
Contest: Genomics Integration Program - Human Health
Sector: Health
Budget: 413 988,00 $

Start date: 01 January 2025 End date: 31 December 2026

User: OPTILAB Capitale-Nationale Complicated pneumonia is an infection often associated with fluid accumulation around the lungs. These infections typically require antimicrobial treatment for several weeks. In the past, doctors would frequently drain the excess fluid around the lungs, believing it would accelerate recovery. This procedure also provided an opportunity to culture microbes and identify the pathogens responsible for the infection. However, recent findings have shown that invasive fluid drainage is often unnecessary, and patients generally(...)
Opened project
Project leader: Luigi Bouchard
Contest: Genomics Integration Program - Human Health
Sector: Health
Budget: 416 098,00 $

Start date: 01 January 2025 End date: 31 December 2026

User: CIUSSS du Saguenay-Lac-Saint-Jean In Quebec, a few rare genetic diseases are more common in certain regions compared to the rest of the world due to founder effects. This is the case in Saguenay-Lac-Saint-Jean, Charlevoix, and Haute-Côte-Nord, where 14 rare diseases are prevalent and pose significant health and survival risks due to limited or nonexistent treatments. Since 2010, a simple and accessible genetic test has been offered free of charge to individuals with at least(...)
Opened project
Project leader: Alexandre Bureau
Contest: Genomics Integration Program - Human Health
Sector: Health
Budget: 400 000,00 $

Start date: 01 January 2025 End date: 31 December 2026

User: CIUSSS de la Capitale-Nationale Major affective and non-affective disorders, including schizophrenia (SZ), bipolar disorder (BP), and recurrent major depressive disorder (RMDD), affect approximately 4% of the population. The human and financial burdens on society are immense, particularly given that current treatments are rarely curative. Heredity plays a significant role in the development of SZ, BP, and RMDD, with genetic variations increasing the likelihood of developing these disorders. In fact, the combined effect of variations(...)
Opened project
Project leader: Thomas Durcan
Contest: Genomics Integration Program - Human Health
Sector: Health
Budget: 400 000,00 $

Start date: 01 January 2025 End date: 31 December 2026

User: Simmunome Inc. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of motor neurons and atrophy of skeletal muscles, for which there is currently no cure. The lack of preclinical models that faithfully replicate the disease mechanisms observed in humans presents a major obstacle to the discovery of new therapies. Our project aims to develop a computational model of ALS using transcriptomic data obtained from human cellular models derived from patients(...)
Opened project
Project leader: Humphrey Fonge
Contest: Genomics Integration Program - Human Health
Sector: Health
Budget: 440 000,00 $

Start date: 01 January 2025 End date: 31 December 2026

User : Molecular Targeting Technologies Inc. Approximately 94% of patients with small cell lung cancer (SCLC) are diagnosed with metastatic, which has a 5-year overall survival rate of only 2%. Chemotherapy and radiotherapy are the primary treatment options for these patients, highlighting a critical unmet clinical need. Somatostatin receptor II (SSTR2) is overexpressed in 55–70% of SCLC cases. We have developed a therapeutic radiopharmaceutical, [225Ac]Ac-EBTATE, which has demonstrated effectiveness in preclinical models of SSTR2-positive SCLC.(...)
Opened project
Project leader: Simon Girard
Contest: Genomics Integration Program - Human Health
Sector: Santé
Budget: 400 000,00 $

Start date: 01 January 2025 End date: 31 December 2026

User: CIUSSS du Saguenay−Lac-Saint-Jean This project aims to analyze the DNA and genealogy of patients prior to their consultation with a physician. Population-scale genetic and genealogical analyses will be conducted to guide the geneticist toward specific genetic mutations, whether known or unknown, that may cause rare diseases with higher prevalence due to the founder effect in the Saguenay–Lac-Saint-Jean region. Currently, some patients undergo numerous consultations and multiple genetic tests before obtaining a diagnosis, generating significant(...)
Opened project
Project leader: Steven Kembel Nicolas Pilon
Contest: Genomics Integration Program - Human Health
Sector: Health
Budget: 399 704,00 $

Start date: 01 January 2025 End date: 31 December 2026

User: Neurenati Therapeutics Inc. Hirschsprung disease is a life-threatening condition characterized by the absence of nerve cells in the lower part of the gastrointestinal tract, leading to severe digestive issues, health complications, and potentially premature death. Our team is working on a groundbreaking treatment for this disease, building on our previous discovery that a biological compound called GDNF (Glial Cell Line-Derived Neurotrophic Factor) can stimulate the development of a new nervous system in the intestines(...)
Opened project
Project leader: Sébastien Lévesque
Contest: Genomics Integration Program - Human Health
Sector: Health
Budget: 444 190,00 $

Start date: 01 January 2025 End date: 31 December 2026

User: CIUSSS de l’Estrie Each year in Quebec, more than 2,000 invasive procedures, such as amniocentesis, are performed on pregnant women considered at risk to confirm or rule out the presence of a serious genetic condition in the fetus. While effective, these procedures carry a risk of miscarriage. This research proposes an innovative and safe alternative: a non-invasive prenatal test based on a simple blood sample from the pregnant woman. This sample contains a small(...)