Researchers at The Hospital for Sick Children identified high densities of variants linked to blood pressure genes in the non-coding genome. The study uses massively parallel reporter assay technology to examine genetic variants and provides a functional map of regulators of blood pressure genes.
Researchers have identified a molecular mechanism underlying the change from gist-like to episodic memory in mice, suggesting that as interneurons mature, they enable memory specificity. This finding has implications for understanding child development research and conditions affecting the brain, such as autism spectrum disorder.
In people with Rett syndrome, nerve cells have a mechanism called transcriptional buffering to partially compensate for genetic changes. This process helps maintain healthy RNA levels and acts as a defence against genetic variations, suggesting a potential new molecular mechanism in human cells.
A new clinical RNA sequencing platform at SickKids is helping researchers understand complex genetic conditions and improve diagnosis for patients with rare diseases. The platform has been validated to be used in the clinical space, providing valuable diagnostic information that complements genome sequencing.
Researchers develop mechanical nanosurgery to destroy tumour cells from within, reducing GBM tumour size universally, including in TMZ-resistant cases. The treatment uses magnetically controlled carbon nanotubes to provide mechanical stimulation, damaging cellular structures and causing tumour cell death.
Researchers developed a novel machine-learning algorithm that analyzes a person's entire transcriptome to create an 'atlas' of pediatric cancer. The platform refines cancer diagnoses for 85% of pediatric cancer patients, identifying 455 subtypes of cancer and revealing subtle differences within subtypes.
Researchers at The Hospital for Sick Children have discovered that dysregulation of energy production is an early sign of heart failure. They found that lysine demethylase 8 (Kdm8) helps maintain balanced energy use, but its suppression leads to changes in metabolism.
The updated guidelines aim to increase impact and improve research integrity by defining and measuring outcomes in clinical trials. The new extensions include nine outcome-specific items that should be defined in all trial protocols and 17 additional items to address in published reports, ensuring transparency and relevance for patients.
Researchers from SickKids have uncovered new genes and genetic changes associated with autism spectrum disorder, including 134 linked genes and gene copy number variations. The study offers a better understanding of the 'genomic architecture' underlying this disorder.
Scientists have uncovered the mechanics of the blood-tumour barrier in medulloblastoma, a malignant paediatric brain tumour. By silencing a specific ion channel, researchers found that chemotherapy medication etoposide was better able to cross the barrier and treat the tumour cells.
Researchers have discovered that a type of pediatric brain tumour, medulloblastoma, develops in a pre-malignant form during human fetal brain development. This finding suggests that medulloblastomas could be preventable by identifying the genetic variations that cause them and acting before they develop.
Researchers found a genetic link between long repeated DNA sequences and schizophrenia. The study discovered rare tandem repeat expansions near genes associated with the disorder, contributing to dysfunction at synapses and disrupting gene function.
A clearer picture has been obtained on why the protein doesn't function properly in the milder form of cystic fibrosis, attributed to segments sticking together and interfering with chloride flow. This discovery opens doors for new avenues of research in rational drug design.
A team of researchers at The Hospital for Sick Children has discovered two distinct types of stem cells within the blood system, short-term repopulating and long-term repopulating stem cells. These stem cells have different functions and could lead to improved cancer treatment and gene therapy outcomes.
Scientists at HSC have successfully reversed fatal pulmonary hypertension in an animal model using an elastase inhibitor, which stops disease progression and restores normal blood vessel function. This breakthrough research may lead to new treatments for other cardiovascular conditions.
A study of infants with dense cataracts found that visual stimulation, not brain development, is responsible for the five-fold visual improvement within six months of birth. Babies' vision improved rapidly after cataract removal and contact lens fitting, with some developing 20/20 vision.
Researchers have successfully eliminated human brain tumors grown in mice using a toxin produced by E. coli bacteria, providing a potential breakthrough in treating astrocytoma and glioblastoma, two common types of brain cancer. The next phase of research will focus on preliminary clinical trials in older children and adults.
Researchers at The Hospital for Sick Children have successfully used biological engineering to prevent the closing of the ductus arteriosus, a key passage between the heart and lungs. This breakthrough approach could lead to a more effective and safe way to help infants with severe heart problems survive.
Researchers have identified the gene responsible for Lafora disease, a severe form of epilepsy characterized by seizures and progressive neurological degeneration. The discovery opens up new areas of research into both epilepsy and normal brain function, with potential applications in genetic diagnostics and treatments.
Researchers found that misoprostol can cause congenital facial paralysis known as Mobius syndrome in children born to mothers who took the drug during pregnancy. The study also showed that mothers who used misoprostol were more likely to have infants with Mobius syndrome compared to those who did not use the medication.