Three research projects receive genomic health grants
Three MCRI-led genomics projects aiming to improve how children respond to medications, testing new ways to diagnose nervous system disorders and discovering better epilepsy treatments for babies have been awarded federal funding.
Associate Professor Rachel Conyers, Professor Paul Lockhart and Dr Katherine Howell have each received a Genomics Health Futures Mission Grant under the Medical Research Future Fund (MRFF).
Associate Professor Conyers will undertake a multi-centre trial that will explore the use of pharmacogenomics for young children. Pharmacogenomics involves analysing a person's genetic makeup to determine whether a medication could be effective or cause side effects.
Image: Associate Professor Rachel Conyers
“Pharmacogenomics is a form of precision medicine that helps us see how a person’s DNA affects their ability to respond to certain drugs,” Associate Professor Conyers said.
“The study will establish the limitations and challenges of pharmacogenomic medicine and testing for children who have weakened immune systems and assess its safety, acceptability, need, cost effectiveness and scalability.
“We will also co-design new strategies with health care professionals so patients understand what pharmacogenomics is and how it can support immunocompromised children.”
Professor Lockhart has received funding for a study that will investigate how the latest cutting-edge genomic technologies can help better diagnose Repeat Expansion (RE) disorders. These conditions, including include Huntington's disease, Fragile X syndrome and spinocerebellar ataxias, result in neurodegeneration, impaired co-ordination and neurodevelopmental disabilities.
Image: Professor Paul Lockhart
“RE disorders are group of genetic disorders characterised by a repeated number of DNA sequences within certain genes. Unfortunately, only a small number of patients can access or have been offered genetic testing,” Professor Lockhart said.
“We will create a new, national pathway, which will see the development and roll-out of updated diagnostic tools for individuals affected by this group of conditions. These tools will be informed by recent advances in our understanding of the genetics behind these disorders.”
Professor Lockhart said the team also aimed to further explore the causes of these conditions, find which genes were involved and expand access to future trials.
Support has also been provided to Dr Howell and Dr Sarah Stephenson to improve rapid diagnosis and better tailor treatments for infants with epilepsy.
Image: Dr Katherine Howell
The international collaboration, known as Gene-STEPS, will see four world-leading paediatric research institutes collaborate to make significant changes to clinical practice.
“Infant-onset epilepsies have high rates of treatment resistance and severe developmental impairments,” Dr Howell said. They frequently have a genetic cause and diagnosing the cause can guide the best treatment. However, the genetic testing available in clinical practice often takes months and still leaves many children without a diagnosis.
“This research will determine if providing rapid genomic testing and using new genetic technologies will increase the volume of diagnosis and boost quality of treatment. By integrating data from several international centres we can also better understand the role genetics play in infant-onset epilepsies and the best way to diagnose them so that treatment can be individualised early.”
Dr Howell said they wanted to improve outcomes for infants with these disorders whilst also reducing the economic burden on the health system.