Murdoch Children's Research Institute's (MCRI) Associate Professor Sebastian Lunke has received a funding boost to develop a faster genetic screening technique for rare disorders.
Associate Professor Lunke has been awarded a Victorian Medical Research Acceleration Fund (VMRAF) grant to enhance new, more cost-effective testing methods for a group of rare genetic diseases and introduce the outcomes into clinical care.
Image: Associate Professor Lunke
His team's novel diagnostic approach will focus on repeat expansion disorders (REDs), which cause neurological, developmental and motor conditions. REDs include Huntington's disease, fragile X syndrome and frontotemporal dementia.
"Genetic tests are enormously helpful and can provide a clear diagnosis to a child with a rare disease, but unfortunately we still can't reliably access around 8 per cent of the human genome with the current, standard technique," Associate Professor Lunke said.
"This research will harness specialised technology developed by our industry partner Oxford Nanopore Technologies that can sequence much longer pieces of DNA, which will allow us to read the currently hidden parts that cause rare REDs."
Associate Professor Lunke said the study aimed to shorten the diagnostic odyssey for families and could expand the number of genetic tests available for REDs and potentially other incurable diseases.
"The diagnostic methods we use for REDs have not changed in decades and we still only offer genetic tests for 11 out of over 80 known diseases in this category," he said.
"This research addresses this very specific gap and builds on the specialised expertise developed by our collaborators right here at MCRI."
Learn more about screening for genetic disease in pregnancy through the Victorian Clinical Genetics Services (VCGS), a subsidiary of MCRI.
