Macquarie University researchers have been awarded a grant to investigate the extent to which genomic sequencing leads to a diagnosis and reproductive information related to familial intellectual disability (ID) for first and second degree relatives.
The research will determine the impact on families, health and welfare services, and the National Disability Insurance Scheme (NDIS) due to the outcomes of cascade testing, which identifies close relatives of someone with a genetic disorder to determine whether the relatives are also affected or are carriers of the same condition.
Genomics uses a person’s own genetic makeup to analyse and understand their disease or cancer and unlock personalised treatments that specifically target their disease.
The Medical Research Future Fund (MRFF) grant is part of a $33 million package announced by the Federal Health Minister, Greg Hunt allocated for genomics research into cancers and to combat children’s diseases.
Macquarie University’s GenIMPACT Centre, which is focused on the economic impacts of genomic medicine, will support the work of Professor Deborah Schofield, Director of GenIMPACT, Dr Rupendra Shrestha, Deputy Director GenIMPACT and Mr Owen Tan, a research fellow with the team, as well as collaborators from the NSW Genetics of Learning Disability (GoLD) Service, the University of NSW, and Genetic Alliance Australia.
“I would like to congratulate Professor Schofield and her collaborators on being awarded this funding,” said Macquarie University Deputy Vice-Chancellor Research, Professor Sakkie Pretorius.
“Macquarie is known for its high-quality research in a range of priority health areas, so it is crucial for our researchers to continue to be recognised and encouraged in this way.”
These are the first competitive grants announced under the Government’s $500 million Genomics Health Futures Mission. Grants have been awarded to 17 projects across three fields.
