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Research
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
Research
Network using Michaelis–Menten kinetics: constructing an algorithm to find target genes from expression dataWe derived a simple ordinary differential equation-based model using Michaelis–Menten Kinetics to process the microarray data
Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.
News & Events
CGM start-up sessionsDiabetes WA is providing free ‘start-up’ information and training sessions for families new to CGM, in partnership with PMH.
Want to know how to be involved with WAERP? Or how long the project is running for? View our Frequently Asked Questions (FAQs) for answers to these questions and more.
Research
The human milk microbiome is minimally associated with breastfeeding practicesThe 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
Viewpoints on what is important to maintain relationship satisfaction in couples raising a child with autism spectrum disorderCouples should be supported to strengthen communication processes and work in partnership to raise their child with ASD through family-centred interventions
Research
“We are in this together”: Experiences of relationship satisfaction in couples raising a child with autism spectrum disorderCouples can be supported in these key areas to strengthen their relationship to serve as a source of resilience for families with a child with ASD
