AI joins the fight against Tay-Sachs
A major investment in Australian genomics research could speed up the diagnosis of rare genetic disease.
There may be fresh hope in the long fight against Tay-Sachs.
A major investment in Australian genomics research could speed up the diagnosis of rare genetic disease, including one of the inherited conditions that most affect Ashkenazi Jews.
Global artificial intelligence company Anthropic is behind the development, backing the Garvan Institute of Medical Research with high-capacity access to its AI model Claude.
The investment targets two projects. The first is led by Professor Daniel MacArthur, director of the Centre for Population Genomics. His team will build a Claude-based system to interpret genetic variants. These are the changes in DNA that can cause disease, and interpreting them by hand is painstaking and slow.
“More than half of the families affected by severe genetic conditions still don’t have an answer for what is causing their child’s disease, limiting their ability to access new treatments or clinical trials,” MacArthur said.
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