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Research

Realising the potential impact of artificial intelligence for rare diseases – A framework

Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management. The International Rare Diseases Research Consortium (IRDiRC) addresses this need through global collaboration, aiming for timely and accurate diagnosis, development of 1000 new therapies, and methodologies to measure impact by 2027.

Research

The human milk microbiome is minimally associated with breastfeeding practices

The human milk microbiome is dominated by typical oral and skin bacteria, suggesting that bacterial communities from the infant mouth and maternal skin contribute to the development of the human milk microbiome. It is postulated that breastfeeding characteristics, such as breastfeeding frequency and duration, could lead to different levels of exposure to oral and skin bacteria, and subsequently, altered bacterial profiles in human milk.  

Research

Tumor site-directed A1R expression enhances CAR T cell function and improves efficacy against solid tumors

Citation: Sek K, Chen AXY, Cole T, Armitage JD, Tong J, ……… Waithman J, Parish IA, et al. Tumor site-directed A1R expression enhances CAR T cell

Research

Bullying

Bullying is now regarded as a health problem and not just a disciplinary problem. Increasing evidence shows both traditional bullying (e.g. hitting, teasing) and cyberbullying have lasting effects on young people (both those who bully and those who are bullied), including damage to self-esteem, academic results and mental health.

How traditional bush tucker could help boost Aboriginal children’s vitamin D

Researchers are collaborating with Community Elders to find out how bush tucker and traditional food can improve the health of Aboriginal children.

Nourish resources good for the body and the soul

For thousands of children around Australia with intellectual and other disabilities, the process of eating can be traumatic, posing challenges that veer from uncomfortable to life threatening.

What’s in a name?

For thousands of WA children living with undiagnosed diseases, it’s hope.

Database a crucial tool helping to fill the CDKL5 information void

The Kids Research Institute Australia disability researcher, Associate Professor Helen Leonard, played an important role in the identification of the differences that define CDD, thanks to her extensive experience researching Rett syndrome and running an Australian online database tracking Rett cases.

Helping to create safe spaces for young LGBTQA+ Aboriginal people

The Walkern Katatdjin (Rainbow Knowledge) project has produced a suite of resources to help services become more inclusive.

Research

“Wait with me until it's over”: A reflexive thematic analysis of adolescents’ coping with dissociation

Dissociation is often distressing, yet how affected adolescents manage dissociation in their daily lives is not well understood. This study aimed to describe the strategies adolescents use to manage dissociative symptoms from the perspective of adolescents themselves, their parents, and their clinicians.