Reproductive carrier screening – the past, present and future
Reproductive carrier screening involves testing individuals to identify risk of having children with autosomal an X linked recessive conditions.
Reproductive carrier screening involves testing individuals to identify risk of having children with autosomal an X linked recessive conditions.
The discovery of rotavirus as the most common cause of acute dehydrating diarrhea at the Royal Children’s Hospital and University of Melbourne in 1973 provided hope for prevention of a major cause of death in young children worldwide. Building from this discovery, MCRI researchers have dedicated 5 decades to understanding the rotavirus and to the development and implementation of rotavirus vaccines.
This Grand Round highlights the experience of people with disability in healthcare. Drawing on her own journey and patient stories, Hannah explores the barriers created by inaccessible communication and bias, and the impact these have on wellbeing.
BANDICOOT is an international adaptive platform trial (APT) designed to identify effective therapies that improve health outcomes for critically ill children receiving a haematopoetic stem cell transplant (HCT). Building
on extensive engagement with patients, their parents, and clinicians, we will launch 3 trial domains focused on exercise, nutritional supplementation, and the gut microbiome
Almost 10 years has passed since the first Lancet Commission on Adolescent Health and Wellbeing. Whilst some progress has been made, many areas of need are escaping our efforts, and much more needs to be done to ensure optimal adolescent health and wellbeing. This second Commission brought together 44 commissioners from across the globe and disciplines, including 10 youth commissioners who co-led each workstream.
Professor Joseph Dearani from the Mayo Clinic is a world-renowned cardiac surgeon, and expert in management of patients with hypertrophic cardiomyopathy. He has accumulated the world’s largest experience with surgical management of these complex patients, and will discuss the lessons.
Immunisations are one of the world’s greatest public health interventions, and also one of the areas of medicine increasingly susceptible to misinformation. Independent, evidence-based scientific advice to governments and the community is crucial in informing immunisation policy and appropriate utilisation and uptake of safe and effective vaccines.
Genomics has moved rapidly from being purely a research tool to being part of routine care in many specialities and health services. Past Grand Round presenters have described how this has enhanced their service – how genomic care may improve patient outcomes, is cost-effective and can be delivered rapidly for acute cases.
There are real challenges in delivering equitable health care in a community, even when there is policy and service goodwill. This is an issue for health services around the world. For the past ten years BiBBS has been working alongside service partners and families to co-design, implement and evaluate multiple early years interventions that are delivered as a part of usual practice in disadvantaged inner-city areas in the UK.
In the last decade, we have seen genetic therapies leap from the benchtop into the neuromuscular clinic. This process is most dramatically illustrated by spinal muscular atrophy (SMA), which was until recently the most common genetic cause of death in infancy.