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.
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.
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.
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.
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.
In three parts, this Grand Round intends to describe the significant developments in the management of musculoskeletal conditions associated with cerebral palsy. First, the critical role that the Victorian Cerebral Palsy Register (VCPR) has played in epidemiological research, clinical research, and public health policy will be outlined. The second section will discuss technical developments in the management of Neuromuscular Hip Dysplasia, including novel imaging techniques and new aids for surgeons when considering surgical treatment. The final section will focus on common gait problems in children with cerebral palsy, as well as novel treatment concepts
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.
The Melbourne Children’s Campus is seeing an increase in the number of clinical trials of gene therapies, especially in vivo viral vector therapies. With some of these therapies now approved by the TGA, there is an expectation by families that these therapies will be available at the Children’s.
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.
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.
