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        Research

        CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

        An 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

        Development of best practice guidelines for clinical and community service providers to prevent suicide in LGBTQA+ young people: A Delphi expert consensus study

        The aim of this study was to develop best practice guidelines for preventing suicide and reducing suicidal thoughts and behaviours in LGBTQA+ young people (lesbian, gay, bisexual, trans, queer/questioning, asexual, and those of other diverse sexualities and genders) within clinical and community service settings in Australia. ...

        Research

        Single cell transcriptomics reveals cell type specific features of developmentally regulated responses to lipopolysaccharide between birth and 5 years

        Human perinatal life is characterized by a period of extraordinary change during which newborns encounter abundant environmental stimuli and exposure to potential pathogens. To meet such challenges, the neonatal immune system is equipped with unique functional characteristics that adapt to changing conditions as development progresses across the early years of life, but the molecular characteristics of such adaptations remain poorly understood. ...

        Research

        Individual, Social, and Environmental Correlates of Energy Drink Use Among Adolescents

        To investigate the correlates of adolescent energy drink use using a socioecological approach to inform future interventions. ...

        Research

        Consumption of energy drinks is associated with depression, anxiety, and stress in young adult males: Evidence from a longitudinal cohort study

        Energy drinks (EDs) claim to boost mental performance, however, few studies have examined the prospective effects of EDs on mental health. This study examined longitudinal associations between ED use and mental health symptoms in young adults aged 20 years over a 2-year period. ...

        Research

        The impact a Mediterranean Diet in the third trimester of pregnancy has on neonatal body fat percentage

        Maternal diet during pregnancy has long been recognised as an important determinant of neonatal outcomes and child development. Infant body composition is a potentially modifiable risk factor for predicting future health and metabolic disease. ...

        News & Events

        Researching support needs for dads with children in preterm care

        The mental health and wellbeing of new fathers whose children end up in neonatal intensive care is the focus of a new project to be led by Telethon Kids Institute researchers, thanks to a $388,000 grant from Healthway.  ...

        News & Events

        Stan Perron Charitable Foundation grants boost WA child health research

        New funding from the Stan Perron Charitable Foundation will support innovative research projects and programs at Telethon Kids Institute with the aim of improving the health and wellbeing of WA children and their families.  ...

        News & Events

        Telethon smashes records as West Australians dig deep for sick kids

        Huge congratulations to Telethon on another record-breaking year, with generous West Australians donating just over $38 million to help sick kids. ...

        Research

        Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuli

        We obtain a set of 57 candidate immediate early genes possessing promoters that consistently drive a rapid but transient increase in expression over time ...

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