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Research

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

Background: Conventional video-electroencephalography (cEEG) is the reference standard for diagnosing and managing neonatal seizures. However, continuous bedside cEEG services are not available in most neonatal units. Hence, an alternative and relatively simple method called amplitude-integrated EEG (aEEG), which uses a limited number of scalp electrodes, has become popular. aEEG allows continuous bedside monitoring of the electrical activity of the brain in neonates.

Research

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

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

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CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

Research

The World Health Organization published the preferred product characteristics for a Group A Streptococcus (Strep A) vaccine in 2018. Based on these parameters for the age of vaccination, vaccine efficacy, duration of protection from vaccine-derived immunity, and vaccination coverage, we developed a static cohort model to estimate the projected health impact of Strep A vaccination at the global, regional, and national levels and by country-income category.

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MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.

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Despite advances in neonatal intensive care, babies admitted to Neonatal Intensive Care Units (NICU) suffer from adverse outcomes. We aim to describe the longer-term respiratory infectious morbidity of infants discharged from NICU using state-wide population-based linked data in Western Australia.

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Jonathan Carapetis AM AM MBBS FRACP FAFPHM PhD FAHMS Executive Director; Co-Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@

Research

Prechtl's General Movement Assessment (GMA) at fidgety age (3-5 months) is a widely used tool for early detection of cerebral palsy. Further to GMA classification, detailed assessment of movement patterns at fidgety age is conducted with the Motor Optimality Score-Revised.