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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyGermline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes.
Research
Mitochondrial gene expression is required for platelet function and blood clottingPlatelets are anucleate blood cells that contain mitochondria and regulate blood clotting in response to injury. Mitochondria contain their own gene expression machinery that relies on nuclear-encoded factors for the biogenesis of the oxidative phosphorylation system to produce energy required for thrombosis.
Research
Progesterone receptor mediates ovulatory transcription through RUNX transcription factor interactions and chromatin remodellingProgesterone receptor (PGR) plays diverse roles in reproductive tissues and thus coordinates mammalian fertility. In the ovary, rapid acute induction of PGR is the key determinant of ovulation through transcriptional control of a unique set of genes that culminates in follicle rupture. However, the molecular mechanisms for this specialized PGR function in ovulation is poorly understood.
Research
Multi-omic profiling reveals an RNA processing rheostat that predisposes to prostate cancerProstate cancer is the most commonly diagnosed malignancy and the third leading cause of cancer deaths. GWAS have identified variants associated with prostate cancer susceptibility; however, mechanistic and functional validation of these mutations is lacking.
Research
Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal diseaseAcute lower respiratory tract infection (ALRI) remains a major worldwide cause of childhood mortality, compelling innovation in prevention and treatment. Children in Papua New Guinea (PNG) experience profound morbidity from ALRI caused by Streptococcus pneumoniae. As a result of evolutionary divergence, the human PNG population exhibits profound genetic variation and diversity. To address unmet health needs of children in PNG, we tested whether genetic variants increased ALRI morbidity.
News & Events
Genetic disease researcher named inaugural Louis Landau Chair of Child Health ResearchProfessor Aleksandra Filipovska has been appointed as the inaugural Louis Landau Chair of Child Health Research.