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Reports and Findings

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…

Joint developmental trajectories of internalizing and externalizing problems from mid-childhood to late adolescence and childhood risk factors: Findings from a prospective pre-birth cohort

There 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…

FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies

Developmental 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 th…

Improving the capacity of researchers and bereaved parents to co-design and translate stillbirth research together

Working with bereaved parents in co-designed stillbirth research, policy and practice is essential to improving care and outcomes.

Study Protocol for a Stepped-Wedge Cluster (Nested) Randomized Controlled Trial of Antenatal Colostrum Expression (ACE) Instruction in First-Time Mothers: The ACE Study

Although 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…

Developing type 1 diabetes resources: a qualitative study to identify resources needed to upskill and support community sport coaches

Community 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 We…

The Social and Emotional Well-being of Indigenous Peoples Living With Diabetes: A Systematic Review Protocol

Globally, 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 ap…

Risk mapping and socio-ecological drivers of soil-transmitted helminth infections in the Philippines: a spatial modelling study

The Philippines reports a high prevalence of soil-transmitted helminth (STH) infections despite the implementation of nationwide mass drug administration since 2006. The spatial variation of STH infections in the Philippines was last described using…

Caregiver burden, mutuality, and family resilience in colorectal cancer caring: A mediating model analysis

This study investigates the interaction between caregiver burden, mutuality, and family resilience in colorectal cancer management, and determines whether mutuality affects the effect of caregiver burden on family resilience.

Retirement, housing mobility, downsizing and neighbourhood quality - A causal investigation

This paper provides the first causal evidence on the impact of retirement on housing choices. Our empirical strategy exploits the discontinuity in the eligibility ages for state pension as an instrument for the endogenous retirement decision and con…