Institute researchers are studying precisely how specialised proteins operate in order to develop treatments for diseases such as muscular dystrophy and Prader-Willi syndrome.

The researchers, led by Associate Professor Marnie Blewitt, recently made two major breakthroughs into the role one of these proteins, SMCHD1, plays in the process of helping turn off certain genes when necessary.

Using advanced imaging techniques, they discovered how SMCHD1 is recruited to genes that need to be switched off.

“We uncovered a set of proteins that work together to bring SMCHD1 to the right genes among thousands of chromosomes,” Associate Professor Blewitt said.

“These findings are a great leap in our understanding of how SMCHD1 operates.”

They also discovered how SMCHD1 switches off genes: it rounds them up into specific areas where it efficiently disables their function.

“These findings are a great leap in our understanding of how SMCHD1 operates,” Associate Professor Blewitt said. “We hope to use this fundamental knowledge to develop targeted drugs that can intervene when SMCHD1 is faulty and development goes awry.”

The team is now analysing a library of more than 120,000 drug-like molecules to see whether these compounds could help to either boost or dampen SMCHD1 activity, depending on what was required to get SMCHD1 activity back on track.