Research

Clinical and genetic challenges of mitochondrial disorders. What does Maeve’s Law offer?

The primary mitochondrial oxidative phosphorylation disorders are characterized by clinical and genetic heterogeneity, limited treatment options, and poor outcomes.  Part of the complexity is because both the nuclear and mitochondrial genomes may be involved.  Mitochondrial DNA is maternally inherited.  From a reproductive counselling perspective, couples with a family history of mitochondrial DNA disease often have limited reproductive options available to them.

.

Generation Victoria (GenV): Every baby. Every parent. Everybody.

Very large, truly population-representative pregnancy cohorts are rare internationally. Generation Victoria (GenV) is a whole-state cohort targeting all newborns (~150,000) and their parents over 2 full years. Components include (i) families recruited soon after birth, (ii) biospecimens from pregnancy onwards, (iii) extensive data linkage supplemented by (iv) minimal GenV collected data, all enabling (v) many additional integrated research studies, both observational and interventional.

.

Measuring and moving on the child and youth mental healthcare system: Reflections from Canada

This session will describe a 10 year initiative to develop a data and evaluation platform for children and youth mental health and service delivery in Ontario, Canada’s largest province.  The session will touch on the advantages and limitations of using routinely collected health system data for surveillance and performance measurement, and challenges in evaluating a large, system wide policy strategy to improve early identification and coordination of care for children and youth with mental health disorders. 

.

3.6 million and counting: Victoria’s Newborn bloodspot screening program – recent innovations and future directions

Victoria’s newborn bloodspot screening (NBS) program commenced in 1966 with screening for phenylketonuria, and from the early 1970’s close to 100% of newborns were being screened. Improvements in analytical and genetic testing technologies saw the successive introduction of screening for congenital hypothyroidism, cystic fibrosis and 22 metabolic conditions. Today, Victoria’s NBS program detects about 80 babies per year with these conditions, preventing life-long debilitating outcomes and even death.

.

Designing better trials with patients who have glomerular disease: Using consensus methods to develop a core outcome set

Trials typically report outcomes that lack relevance to patients and caregivers trying to make treatment decisions. Also, outcomes are often reported inconsistently which impairs evidence synthesis. Core outcome sets can address these important shortcomings with current trial outcomes by developing a set of outcomes to be routinely reported in all trials in a particular field.

.

Exploring the Role of the Nurse Ethicist

The Royal Children’s Hospital Children’s Bioethics Centre has recently appointed the first Bioethics Clinical Nurse Consultant, Dr Jenny O’Neill. In this Grand Round, we introduce Jenny, and explore the role of the nurse ethicist and the value they can bring to a healthcare service.  We will highlight the unique perspective that a nursing background brings to ethical deliberation and clinical ethics consultation.

.

The RCH Advanced Heart Failure Programme: Heart transplantation and ventricular assist devices

Over recent years the number of children with advanced heart failure from cardiomyopathy and congenital heart disease receiving treatment has increased considerably. The Royal Children’s Hospital has been the nationally funded centre for heart transplantation in children for 30 years. The RCH heart failure program involves medical, surgical, nursing, allied health and biomedical technology. Successful management of severe heart disease in children requires a detailed understanding of the aetiology, likely disease trajectory and balancing an increasing number of treatment options.

.

The pathogens causing child pneumonia: An ever-changing spectrum

It is World Pneumonia Day on November 12th. Pneumonia remains a leading cause of death among young children despite the widespread introduction of pneumococcal conjugate vaccine (PCV) and Haemophilus influenzae type b (Hib) vaccine. Respiratory syncytial virus (RSV) is a common respiratory virus that may cause severe respiratory disease especially in infants. We will describe the findings of a systematic review, which was part of a series for WHO, which aimed to determine the common aetiology of severe and non-severe community acquired pneumonia among children 1 month to 9 years of age in low- and middle-income countries globally. We will also discuss the impact of the global pandemic on the epidemiology of respiratory infections with a focus on RSV.

.

Double agents: adventures as a clinician and scientist

Through a significant contribution from the RCH Foundation, the Clinician Scientist Fellowship program supports doctors, nurses and allied health professionals to undertake research up to 2 days a week for up to 5 years. The Fellowship enables talented, clinically qualified professionals who have gained a higher research degree to pursue academic research alongside clinical practice.

.