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.
Genomics
Bringing innovation into everyday care: Insights from Victoria’s genomics journey
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.
Genomics for the non-genomic specialist: Bridging the gap between innovation and everyday practice
Genomic medicine is rapidly evolving, yet many clinicians outside of clinical genetics face challenges in integrating these advances into routine practice. In this Grand Round, Associate Professor Catherine Quinlan explores her journey mainstreaming genomics in paediatric nephrology, using real-world data from Australia and Ireland and its implementation at The Royal Children’s Hospital.
The revolution in the treatment of genetic skeletal disorders: precision therapy in practice
Over the past 15 years, the treatment of genetic skeletal disorders has evolved from purely symptomatic, to the emergence of several precision therapies that promise to change the health outcomes of children affected by these conditions. We have led this knowledge transformation, enabled and fueled by the genomics revolution. This Grand Round will update the progress on the precision treatment of genetic skeletal disorders that sets a template for the better treatment of many other rare genetic conditions.
The Cancer Flagship at MCRI – Driving innovations in diagnosis, therapy and survivorship for children with cancer
After completing a comprehensive process, including stakeholder engagement and workshops, the Murdoch Children’s Research Institute has established a Cancer Flagship to bring together child health researchers across multiple disciplines interested and invested in childhood cancer across the research continuum.
Reddihough Symposium: Disability care in 2023
What does disability care for children and young people look like in 2023, and what could it be like in the future? In 2023 it is more holistic, more funded, more early intervention, more complex, and more positive for children and their families.
reNEW: Transforming lives with stem cell medicine
Scientific advances now allow researchers to identify, isolate and engineer stem cells. reNEW aims to deliver treatment outcomes across the breadth of stem cell medicine – new drugs based on human stem cell models, new tissue therapies, and new cell and gene therapies. We look forward to presenting how stem cell medicine and reNEW are advancing treatments for delivery into the clinic across many currently untreatable diseases.
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.
Reproductive genetic carrier screening through the ages
Reproductive carrier screening has been possible since the 1970s. Initially conducted by testing of blood analytes for carrier status for haemoglobinopathies and Tay Sachs disease, screening for an ever increasing number of conditions became possible by genetic testing from the late 1980s. The advent of genomic sequencing means that it is now possible to screen over 1000 genes, a process called expanded carrier screening.
Acute Care Genomics: Accelerating the diagnosis of rare diseases
Genetic conditions are the leading cause of death in children in high-income countries. Accurate and timely diagnosis is critical for being able to provide prognostic information and guide treatment, yet often takes many years.