Scientists reprogrammed stem cells to create models of diseased eye cells, analyzing DNA, RNA, and proteins to pinpoint genetic signatures. The study identified 439 molecular signatures associated with AMD, including potential new gene variants that target mitochondrial proteins.
Researchers at the Garvan Institute of Medical Research have identified key molecules linked to the mammalian-meat allergy caused by tick bites. The study reveals that a particular antibody type has a natural pocket into which a sugar molecule, galactose-α-1,3-galactose (alpha-gal), snugly fits.
Researchers used stem-cell models to uncover hidden genetic markers of glaucoma, a leading cause of permanent blindness. The study identified 312 genetic variants associated with retinal cells and 97 genetic clusters linked to damage caused by glaucoma.
Researchers analyzed genomic profiles of over one million cells from 1,000 people, identifying a link between specific genes and immune cell types in autoimmune diseases. The discovery could lead to tailored treatments and refine clinical trials.
A new DNA test has been developed to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more accurately than existing tests. The test uses Nanopore sequencing technology to scan for abnormally long repeats within patients' genes, which are the hallmarks of disease.
Researchers found that bisphosphonate treatment stimulates lung macrophages to mount a stronger response against pathogens, enhancing immune function. This could lead to improved health outcomes for the older population at higher risk of pneumonia and osteoporosis.
The study identifies a guide to developing vaccines that prevent coronavirus infection and are resistant to evolving viral strains. Immunising with surface proteins from related viruses, such as SARS-CoV-1, generated antibodies that met these criteria.
Researchers have discovered a new approach to prime the tumor environment to make chemotherapy more effective for pancreatic ductal adenocarcinoma. By reducing stiffness and density of connective tissue, cancer spread was reduced by up to 50%. The study paves the way for a clinical trial to assess the therapy approach's effectiveness.
Cancer is driven by changes to DNA and epigenome, which evolve during the cancer life cycle. Advanced technologies are mapping genomic and epigenomic changes in three-dimensional tumour context, revealing new insights into cancer formation and progression.
A new treatment approach investigated by researchers at the Garvan Institute of Medical Research may help stop breast cancer cells from spreading. By targeting a signalling molecule called Rac1, the study found that breast cancer cells became more vulnerable to physical stresses in the bloodstream and less likely to survive the journey.
Researchers analyzed over 2000 SARS-CoV-2 protein structures to identify viral proteins that 'mimic' and 'hijack' human proteins. The study found three coronavirus proteins that 'mimicked' human proteins, allowing the virus to evade the immune system and contribute to variation in COVID-19 outcomes.
Researchers have discovered 50 distinct breast cancer subtypes and nine 'ecotypes', each linked to different clinical outcomes, offering a potential framework for personalized treatments. The study's findings could inform therapy strategies and identify patients most likely to respond to specific treatments.
Researchers have uncovered thousands of new regulatory regions that control disease-linked genes, providing a significant step forward for genomics-driven precision medicine. This new resource, available worldwide, could help identify markers revealing which patients will benefit most from specific treatments.
Researchers have discovered a link between cognitive decline and faster bone loss in women, increasing future fracture risk. Cognitive decline over five years was associated with a 1.7-fold increase in fracture risk in subsequent 10 years.
A new online database, TOPOGRAPH, has been developed to streamline the process of recommending therapeutic treatments in precision cancer medicine for Australian patients. The platform catalogues oncology research and provides personalized treatment recommendations based on genomic variations and biomarkers.
Researchers found blocking a receptor of neuropeptide Y increases fat metabolism and prevents weight gain in obese individuals. The treatment, BIBO3304, targets peripheral tissues without affecting the brain, offering a potentially safer alternative to current medications.
Researchers have mapped the genetic profile of osteocytes, a type of bone cell that controls skeleton growth and decay. The study identifies novel genes associated with rare and common skeletal diseases, paving the way for new treatments and improved diagnosis.
Researchers found that breast cancer cells trigger uncontrolled inflammation and remodel tissue, making the cancer more aggressive. The study suggests targeting inflammatory pathways could improve treatment outcomes for pregnant women with breast cancer.
An international team validated five commercial assays for tumour DNA sequencing, detecting late-stage cancer with 0.5% circulating tumour DNA (ctDNA) sensitivity. The study outlines best-practice guidelines and future development priorities for ctDNA assays in cancer diagnostics and monitoring.
Researchers have discovered a new type of bone cell called 'osteomorphs' that may reveal new therapeutic approaches for osteoporosis and other skeletal diseases. The cells have a unique genomic profile, suggesting promising targets for therapy.
Researchers developed a computational model to calculate 'skeletal age', a personalised estimate of an individual's risk of bone fracture and premature death. The skeletal age calculator aims to better identify those at risk of a first bone fracture and subsequent fractures, as well as estimates how fractures impact life expectancy.
Researchers discovered that three patients with DOCK8 deficiency spontaneously repaired their faulty genes through somatic reversion, restoring normal immune function. This breakthrough has implications for future therapies and treatments for the often-fatal disease.
Researchers at the Garvan Institute of Medical Research have discovered a new form of DNA methylation in zebrafish, specifically at TGCT repeats. This discovery could lead to the development of new experimental models for studying how DNA modifications impact human development and disease.
Patients with rare inherited immune disorders had similar disease outcomes to the general population after SARS-CoV-2 infection, with some immune defects even appearing protective against severe disease. However, younger male patients with PIDs were more likely to require ICU admission and suffer severe COVID-19.
A new mobile app, Genopo, developed by Garvan Institute of Medical Research, makes genomics more accessible to remote or under-resourced regions and the hospital bedside. The app enables fast, real-time genomic analysis on a smartphone, opening possibilities for point-of-care testing and unlocking information in DNA or RNA.
A six-year study found metformin slowed cognitive decline and reduced dementia risk in individuals with type 2 diabetes. Researchers believe the medication may also benefit those at risk of cognitive decline without diabetes. The study suggests a potential repurposing of metformin to prevent cognitive decline in older people.
Researchers discovered that when the foreign antigen is more flexible, the germinal centre can employ a greater number of evolution strategies to make antibodies that bind foreign but not self-molecules. The study provides new insights for vaccine design and may help address the major roadblock in generating effective HIV vaccines.
A team of researchers has identified four subtypes of cells in triple negative breast cancer that contain promising new therapeutic targets. The study found that one subtype produces molecules that suppress immune cells, which may help cancer cells evade the immune system.
Researchers discovered that cancer cells generate a high number of errors when copying their DNA under treatment, fuelling resistance. Combining targeted therapy with DNA repair mechanism-targeting drugs may lead to more effective therapeutic strategies.
A team of researchers at the Garvan Institute of Medical Research has identified individual cells that cause autoimmune disease from patient samples. They discovered how these cells 'go rogue' by evading checkpoints and accumulating genetic mutations that drive disease progression.
Researchers have compiled a genome reference database of thousands of healthy older Australians, providing a powerful framework to identify new disease-causing gene variants. The database shows genetic changes associated with ageing, including shorter telomeres and less mitochondrial DNA, which may predict health outcomes for individuals.
Researchers discover that hormone resistant ER+ breast cancers have a 'rewired' 3D structure of DNA, altering gene activation and silencing. This change may explain how cancer cells evade hormone therapy, offering a potential path for reversal using existing drugs.
A new method called scPred uses single cell analysis techniques with machine learning algorithms to identify specific types of cells. This can help diagnose cancer and autoimmune diseases earlier, and personalize treatments for individual patients.
A study of over 1,000 elderly individuals reveals that statin use is not associated with memory loss or cognitive decline. In fact, statins may even slow down cognitive decline in individuals at risk of dementia.
The study reveals that anatomically modern humans (Homo sapiens sapiens) first appeared in a southern African homeland and thrived there for 70,000 years. The researchers used mitochondrial DNA to reconstruct the earliest human population history, suggesting that climate changes triggered early migrations.
Researchers found that targeting IL23, an immune molecule central to osteosarcoma development, can successfully shrink tumours in mice. The study provides hope for new treatments and repurposed therapy for this rare form of cancer.
A recent study found that modern humans acquired a gene variant from Denisovans that increases immune reactions and protective responses to disease-causing microbes. The Denisovan gene variant, I207L, was discovered in families with severe autoimmune conditions and was also present in an extinct human species found in the Altai Mountains.
Two studies found that nitrogen-bisphosphonates reduce the risk of osteoporotic fractures and premature mortality by 34% in individuals aged over 50. The treatment is particularly beneficial for those at risk of osteoporosis, with a significant reduction in bone loss contributing to the overall benefit.
Researchers found that pancreatic tumours produce more perlecan to remodel the environment, helping cancer cells spread and resist chemotherapy. Lowering perlecan levels improved response to treatment in mouse models.
A new method, RAGE-seq, enables scientists to track rare immune cells reactive against cancer cells. The technique reveals unprecedented insight into armming the immune system to target cancer. By scanning thousands of immune cells at a time, it provides an accurate snapshot of how the immune cells in a tissue sample are related.
New research reveals that epigenetic changes in humans and zebrafish, a tiny fish species, are conserved for over 400 million years. The study found that genes linked to cancer development are silenced early in human embryos, similar to zebrafish, suggesting an ancient mechanism controlling these genes.
A new study created the first comprehensive genomic map of fat cells, revealing unique features that appear to 'hard-wire' different types of fat. The findings may guide future research into the drivers of harm arising from fat build-up in different parts of the body.
A team of scientists has uncovered the unique set of genes that keep some cancer cells dormant, which may reveal new therapeutic targets for multiple myeloma and other cancers. The study found that dormant cancer cells have a similar transcriptome signature to immune cells but are only 'switched on' when located next to osteoblasts.
A study found that a high-calorie diet combined with stress leads to more weight gain than the same diet without stress. The researchers discovered a molecular pathway controlled by insulin and the NPY molecule, which drives additional weight gain. This highlights the importance of being mindful of food intake when stressed.
Researchers at the Garvan Institute of Medical Research have developed a new diagnostic method that screens cancer samples for 'fusion genes', which are linked to one in five cancers. The test identifies 20% more fusion genes than current methods, potentially leading to personalized treatments.
Researchers at Garvan Institute of Medical Research have developed a computational method to reduce the amount of memory necessary for genome alignment, allowing for real-time analysis on smartphones. This breakthrough enables remote disease identification and point-of-care microbial infections.
A new study reveals that protein kinase C epsilon (PKCε) is acting from fat tissue to worsen disease, pointing to a new function in this dynamic organ. Fat tissue reveals striking differences in cell shape and size in the presence and absence of PKCε.
Researchers report on the most in-depth study to date of how human stem cells can be turned into heart cells, revealing unique patterns of gene activity associated with cardiac cell development. The findings provide new insights into how the heart builds itself and may lead to new approaches for repairing damaged hearts.
Researchers discovered a previously unseen 'ecosystem' in advanced breast cancer, where primary tumors emit signals to halt secondary tumor growth. The study found that activating the immune response can freeze secondary cancers, offering new hope for living with advanced breast cancer.
Scientists at Garvan Institute of Medical Research have identified a new micro-organ within the immune system that helps fight reinfection fast. The structure, named SPFs, is strategically positioned to detect infection early and contains immune cells gathering to mount a rapid response.