Reports and Findings
Research
Presence of onco-fetal neighborhoods in hepatocellular carcinoma is associated with relapse and response to immunotherapyOnco-fetal reprogramming of the tumor ecosystem induces fetal developmental signatures in the tumor microenvironment, leading to immunosuppressive features. Here, we employed single-cell RNA sequencing, spatial transcriptomics and bulk RNA sequencing to delineate specific cell subsets involved in hepatocellular carcinoma relapse and response to immunotherapy.
Research
Normative Modeling of Brain Morphometry in Clinical High Risk for PsychosisThe lack of robust neuroanatomical markers of psychosis risk has been traditionally attributed to heterogeneity. A complementary hypothesis is that variation in neuroanatomical measures in individuals at psychosis risk may be nested within the range observed in healthy individuals.
Research
Egg-sensitised infants have elevated CD4+ effector memory T regulatory cells from birthIgE-mediated sensitisation to egg is common in infants. In some cases, the processes leading to egg sensitisation are established in early life, even before introduction to solid foods. The underlying mechanisms remain poorly understood.
Research
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
Research
Joint developmental trajectories of internalizing and externalizing problems from mid-childhood to late adolescence and childhood risk factors: Findings from a prospective pre-birth cohortThere is limited evidence on heterogenous co-developmental trajectories of internalizing and externalizing problems from childhood to adolescence and predictors of these joint trajectories. We utilized longitudinal data from Raine Study participants to identify these joint trajectories from 5 to 17 years using parallel-process latent class growth analysis and analyze childhood individual and family risk factors predicting these joint trajectories using multinomial logistic regression.
Research
FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic EncephalopathiesDevelopmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.
Research
Improving the capacity of researchers and bereaved parents to co-design and translate stillbirth research togetherWorking with bereaved parents in co-designed stillbirth research, policy and practice is essential to improving care and outcomes.
Research
Study Protocol for a Stepped-Wedge Cluster (Nested) Randomized Controlled Trial of Antenatal Colostrum Expression (ACE) Instruction in First-Time Mothers: The ACE StudyAlthough many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers.
Research
Developing type 1 diabetes resources: a qualitative study to identify resources needed to upskill and support community sport coachesCommunity sport coaches in Western Australia lack an understanding, the confidence, and knowledge in supporting young people with Type 1 diabetes (T1D). This study aims to identify what T1D educational resources are required to upskill coaches in Western Australia.
Research
The Social and Emotional Well-being of Indigenous Peoples Living With Diabetes: A Systematic Review ProtocolGlobally, Indigenous people have a greater incidence and earlier onset of diabetes than the general population and have higher documented rates of emotional distress and mental illness. This systematic review will provide a synthesis and critical appraisal of the evidence focused on the social and emotional well-being of Indigenous peoples living with diabetes, including prevalence, impact, moderators, and the efficacy of interventions.